Author: "Oruc, L." / Database: OAIster - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Oruc, L."' showing total 59 results

Start Over Author "Oruc, L." Database OAIster

59 results on '"Oruc, L."'

1. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Mullins, N. Forstner, A.J. O’Connell, K.S. Coombes, B. Coleman, J.R.I. Qiao, Z. Als, T.D. Bigdeli, T.B. Børte, S. Bryois, J. Charney, A.W. Drange, O.K. Gandal, M.J. Hagenaars, S.P. Ikeda, M. Kamitaki, N. Kim, M. Krebs, K. Panagiotaropoulou, G. Schilder, B.M. Sloofman, L.G. Steinberg, S. Trubetskoy, V. Winsvold, B.S. Won, H.-H. Abramova, L. Adorjan, K. Agerbo, E. Al Eissa, M. Albani, D. Alliey-Rodriguez, N. Anjorin, A. Antilla, V. Antoniou, A. Awasthi, S. Baek, J.H. Bækvad-Hansen, M. Bass, N. Bauer, M. Beins, E.C. Bergen, S.E. Birner, A. Bøcker Pedersen, C. Bøen, E. Boks, M.P. Bosch, R. Brum, M. Brumpton, B.M. Brunkhorst-Kanaan, N. Budde, M. Bybjerg-Grauholm, J. Byerley, W. Cairns, M. Casas, M. Cervantes, P. Clarke, T.-K. Cruceanu, C. Cuellar-Barboza, A. Cunningham, J. Curtis, D. Czerski, P.M. Dale, A.M. Dalkner, N. David, F.S. Degenhardt, F. Djurovic, S. Dobbyn, A.L. Douzenis, A. Elvsåshagen, T. Escott-Price, V. Ferrier, I.N. Fiorentino, A. Foroud, T.M. Forty, L. Frank, J. Frei, O. Freimer, N.B. Frisén, L. Gade, K. Garnham, J. Gelernter, J. Giørtz Pedersen, M. Gizer, I.R. Gordon, S.D. Gordon-Smith, K. Greenwood, T.A. Grove, J. Guzman-Parra, J. Ha, K. Haraldsson, M. Hautzinger, M. Heilbronner, U. Hellgren, D. Herms, S. Hoffmann, P. Holmans, P.A. Huckins, L. Jamain, S. Johnson, J.S. Kalman, J.L. Kamatani, Y. Kennedy, J.L. Kittel-Schneider, S. Knowles, J.A. Kogevinas, M. Koromina, M. Kranz, T.M. Kranzler, H.R. Kubo, M. Kupka, R. Kushner, S.A. Lavebratt, C. Lawrence, J. Leber, M. Lee, H.-J. Lee, P.H. Levy, S.E. Lewis, C. Liao, C. Lucae, S. Lundberg, M. MacIntyre, D.J. Magnusson, S.H. Maier, W. Maihofer, A. Malaspina, D. Maratou, E. Martinsson, L. Mattheisen, M. McCarroll, S.A. McGregor, N.W. McGuffin, P. McKay, J.D. Medeiros, H. Medland, S.E. Millischer, V. Montgomery, G.W. Moran, J.L. Morris, D.W. Mühleisen, T.W. O’Brien, N. O’Donovan, C. Olde Loohuis, L.M. Oruc, L. Papiol, S. Pardiñas, A.F. Perry, A. Pfennig, A. Porichi, E. Potash, J.B. Quested, D. Raj, T. Rapaport, M and Mullins, N. Forstner, A.J. O’Connell, K.S. Coombes, B. Coleman, J.R.I. Qiao, Z. Als, T.D. Bigdeli, T.B. Børte, S. Bryois, J. Charney, A.W. Drange, O.K. Gandal, M.J. Hagenaars, S.P. Ikeda, M. Kamitaki, N. Kim, M. Krebs, K. Panagiotaropoulou, G. Schilder, B.M. Sloofman, L.G. Steinberg, S. Trubetskoy, V. Winsvold, B.S. Won, H.-H. Abramova, L. Adorjan, K. Agerbo, E. Al Eissa, M. Albani, D. Alliey-Rodriguez, N. Anjorin, A. Antilla, V. Antoniou, A. Awasthi, S. Baek, J.H. Bækvad-Hansen, M. Bass, N. Bauer, M. Beins, E.C. Bergen, S.E. Birner, A. Bøcker Pedersen, C. Bøen, E. Boks, M.P. Bosch, R. Brum, M. Brumpton, B.M. Brunkhorst-Kanaan, N. Budde, M. Bybjerg-Grauholm, J. Byerley, W. Cairns, M. Casas, M. Cervantes, P. Clarke, T.-K. Cruceanu, C. Cuellar-Barboza, A. Cunningham, J. Curtis, D. Czerski, P.M. Dale, A.M. Dalkner, N. David, F.S. Degenhardt, F. Djurovic, S. Dobbyn, A.L. Douzenis, A. Elvsåshagen, T. Escott-Price, V. Ferrier, I.N. Fiorentino, A. Foroud, T.M. Forty, L. Frank, J. Frei, O. Freimer, N.B. Frisén, L. Gade, K. Garnham, J. Gelernter, J. Giørtz Pedersen, M. Gizer, I.R. Gordon, S.D. Gordon-Smith, K. Greenwood, T.A. Grove, J. Guzman-Parra, J. Ha, K. Haraldsson, M. Hautzinger, M. Heilbronner, U. Hellgren, D. Herms, S. Hoffmann, P. Holmans, P.A. Huckins, L. Jamain, S. Johnson, J.S. Kalman, J.L. Kamatani, Y. Kennedy, J.L. Kittel-Schneider, S. Knowles, J.A. Kogevinas, M. Koromina, M. Kranz, T.M. Kranzler, H.R. Kubo, M. Kupka, R. Kushner, S.A. Lavebratt, C. Lawrence, J. Leber, M. Lee, H.-J. Lee, P.H. Levy, S.E. Lewis, C. Liao, C. Lucae, S. Lundberg, M. MacIntyre, D.J. Magnusson, S.H. Maier, W. Maihofer, A. Malaspina, D. Maratou, E. Martinsson, L. Mattheisen, M. McCarroll, S.A. McGregor, N.W. McGuffin, P. McKay, J.D. Medeiros, H. Medland, S.E. Millischer, V. Montgomery, G.W. Moran, J.L. Morris, D.W. Mühleisen, T.W. O’Brien, N. O’Donovan, C. Olde Loohuis, L.M. Oruc, L. Papiol, S. Pardiñas, A.F. Perry, A. Pfennig, A. Porichi, E. Potash, J.B. Quested, D. Raj, T. Rapaport, M
Abstract: Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2021

2. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Mullins, N, Forstner, AJ, O'Connell, KS, Coombes, B, Coleman, JR, Qiao, Z, Als, TD, Bigdeli, TB, Borte, S, Bryois, J, Charney, AW, Drange, OK, Gandal, MJ, Hagenaars, SP, Ikeda, M, Kamitaki, N, Kim, M, Krebs, K, Panagiotaropoulou, G, Schilder, BM, Sloofman, LG, Steinberg, S, Trubetskoy, V, Winsvold, BS, Won, H-H, Abramova, L, Adorjan, K, Agerbo, E, Al Eissa, M, Albani, D, Alliey-Rodriguez, N, Anjorin, A, Antilla, V, Antoniou, A, Awasthi, S, Baek, JH, Baekvad-Hansen, M, Bass, N, Bauer, M, Beins, EC, Bergen, SE, Birner, A, Pedersen, CB, Boen, E, Boks, MP, Bosch, R, Brum, M, Brumpton, BM, Brunkhorst-Kanaan, N, Budde, M, Bybjerg-Grauholm, J, Byerley, W, Cairns, M, Casas, M, Cervantes, P, Clarke, T-K, Cruceanu, C, Cuellar-Barboza, A, Cunningham, J, Curtis, D, Czerski, PM, Dale, AM, Dalkner, N, David, FS, Degenhardt, F, Djurovic, S, Dobbyn, AL, Douzenis, A, Elvsashagen, T, Escott-Price, V, Ferrier, IN, Fiorentino, A, Foroud, TM, Forty, L, Frank, J, Frei, O, Freimer, NB, Frisen, L, Gade, K, Garnham, J, Gelernter, J, Pedersen, MG, Gizer, IR, Gordon, SD, Gordon-Smith, K, Greenwood, TA, Grove, J, Guzman-Parra, J, Ha, K, Haraldsson, M, Hautzinger, M, Heilbronner, U, Hellgren, D, Herms, S, Hoffmann, P, Holmans, PA, Huckins, L, Jamain, S, Johnson, JS, Kalman, JL, Kamatani, Y, Kennedy, JL, Kittel-Schneider, S, Knowles, JA, Kogevinas, M, Koromina, M, Kranz, TM, Kranzler, HR, Kubo, M, Kupka, R, Kushner, SA, Lavebratt, C, Lawrence, J, Leber, M, Lee, H-J, Lee, PH, Levy, SE, Lewis, C, Liao, C, Lucae, S, Lundberg, M, MacIntyre, DJ, Maier, W, Maihofer, A, Malaspina, D, Maratou, E, Martinsson, L, Mattheisen, M, McCarroll, SA, McGregor, NW, McGuffin, P, McKay, JD, Medeiros, H, Medland, SE, Millischer, V, Montgomery, GW, Moran, JL, Morris, DW, Muhleisen, TW, O'Brien, N, O'Donovan, C, Loohuis, LMO, Oruc, L, Papiol, S, Pardinas, AF, Perry, A, Pfennig, A, Porichi, E, Potash, JB, Quested, D, Raj, T, Rapaport, MH, DePaulo, JR, Regeer, EJ, Rice, JP, Rivas, F, Rivera, M, Roth, J, Roussos, P, Ruderfer, DM, Sanchez-Mora, C, Schulte, EC, Senner, F, Sharp, S, Shilling, PD, Sigurdsson, E, Sirignano, L, Slaney, C, Smeland, OB, Sobell, JL, Hansen, CS, Artigas, MS, Spijker, AT, Stein, DJ, Strauss, JS, Swiatkowska, B, Terao, C, Thorgeirsson, TE, Toma, C, Tooney, P, Tsermpini, E-E, Vawter, MP, Vedder, H, Walters, JTR, Witt, SH, Xi, S, Xu, W, Yang, JMK, Young, AH, Young, H, Zandi, PP, Zhou, H, Zillich, L, Adolfsson, R, Agartz, I, Alda, M, Alfredsson, L, Babadjanova, G, Backlund, L, Baune, BT, Bellivier, F, Bengesser, S, Berrettini, WH, Blackwood, DHR, Boehnke, M, Borglum, AD, Breen, G, Carr, VJ, Catts, S, Corvin, A, Craddock, N, Dannlowski, U, Dikeos, D, Esko, T, Etain, B, Ferentinos, P, Frye, M, Fullerton, JM, Gawlik, M, Gershon, ES, Goes, F, Green, MJ, Grigoroiu-Serbanescu, M, Hauser, J, Henskens, F, Hillert, J, Hong, KS, Hougaard, DM, Hultman, CM, Hveem, K, Iwata, N, Jablensky, A, Jones, I, Jones, LA, Kahn, RS, Kelsoe, JR, Kirov, G, Landen, M, Leboyer, M, Lewis, CM, Li, QS, Lissowska, J, Lochner, C, Loughland, C, Martin, NG, Mathews, CA, Mayoral, F, McElroy, SL, McIntosh, AM, McMahon, FJ, Melle, I, Michie, P, Milani, L, Mitchell, PB, Morken, G, Mors, O, Mortensen, PB, Mowry, B, Muller-Myhsok, B, Myers, RM, Neale, BM, Nievergelt, CM, Nordentoft, M, Nothen, MM, ODonovan, MC, Oedegaard, KJ, Olsson, T, Owen, MJ, Paciga, SA, Pantelis, C, Pato, C, Pato, MT, Patrinos, GP, Perlis, RH, Posthuma, D, Ramos-Quiroga, JA, Reif, A, Reininghaus, EZ, Ribases, M, Rietschel, M, Ripke, S, Rouleau, GA, Saito, T, Schall, U, Schalling, M, Schofield, PR, Schulze, TG, Scott, LJ, Scott, RJ, Serretti, A, Weickert, CS, Smoller, JW, Stefansson, H, Stefansson, K, Stordal, E, Streit, F, Sullivan, PF, Turecki, G, Vaaler, AE, Vieta, E, Vincent, JB, Waldman, ID, Weickert, TW, Werge, T, Wray, NR, Zwart, J, Biernacka, JM, Nurnberger, J, Cichon, S, Edenberg, HJ, Stahl, EA, McQuillin, A, Di Florio, A, Ophoff, RA, Andreassen, OA, Mullins, N, Forstner, AJ, O'Connell, KS, Coombes, B, Coleman, JR, Qiao, Z, Als, TD, Bigdeli, TB, Borte, S, Bryois, J, Charney, AW, Drange, OK, Gandal, MJ, Hagenaars, SP, Ikeda, M, Kamitaki, N, Kim, M, Krebs, K, Panagiotaropoulou, G, Schilder, BM, Sloofman, LG, Steinberg, S, Trubetskoy, V, Winsvold, BS, Won, H-H, Abramova, L, Adorjan, K, Agerbo, E, Al Eissa, M, Albani, D, Alliey-Rodriguez, N, Anjorin, A, Antilla, V, Antoniou, A, Awasthi, S, Baek, JH, Baekvad-Hansen, M, Bass, N, Bauer, M, Beins, EC, Bergen, SE, Birner, A, Pedersen, CB, Boen, E, Boks, MP, Bosch, R, Brum, M, Brumpton, BM, Brunkhorst-Kanaan, N, Budde, M, Bybjerg-Grauholm, J, Byerley, W, Cairns, M, Casas, M, Cervantes, P, Clarke, T-K, Cruceanu, C, Cuellar-Barboza, A, Cunningham, J, Curtis, D, Czerski, PM, Dale, AM, Dalkner, N, David, FS, Degenhardt, F, Djurovic, S, Dobbyn, AL, Douzenis, A, Elvsashagen, T, Escott-Price, V, Ferrier, IN, Fiorentino, A, Foroud, TM, Forty, L, Frank, J, Frei, O, Freimer, NB, Frisen, L, Gade, K, Garnham, J, Gelernter, J, Pedersen, MG, Gizer, IR, Gordon, SD, Gordon-Smith, K, Greenwood, TA, Grove, J, Guzman-Parra, J, Ha, K, Haraldsson, M, Hautzinger, M, Heilbronner, U, Hellgren, D, Herms, S, Hoffmann, P, Holmans, PA, Huckins, L, Jamain, S, Johnson, JS, Kalman, JL, Kamatani, Y, Kennedy, JL, Kittel-Schneider, S, Knowles, JA, Kogevinas, M, Koromina, M, Kranz, TM, Kranzler, HR, Kubo, M, Kupka, R, Kushner, SA, Lavebratt, C, Lawrence, J, Leber, M, Lee, H-J, Lee, PH, Levy, SE, Lewis, C, Liao, C, Lucae, S, Lundberg, M, MacIntyre, DJ, Maier, W, Maihofer, A, Malaspina, D, Maratou, E, Martinsson, L, Mattheisen, M, McCarroll, SA, McGregor, NW, McGuffin, P, McKay, JD, Medeiros, H, Medland, SE, Millischer, V, Montgomery, GW, Moran, JL, Morris, DW, Muhleisen, TW, O'Brien, N, O'Donovan, C, Loohuis, LMO, Oruc, L, Papiol, S, Pardinas, AF, Perry, A, Pfennig, A, Porichi, E, Potash, JB, Quested, D, Raj, T, Rapaport, MH, DePaulo, JR, Regeer, EJ, Rice, JP, Rivas, F, Rivera, M, Roth, J, Roussos, P, Ruderfer, DM, Sanchez-Mora, C, Schulte, EC, Senner, F, Sharp, S, Shilling, PD, Sigurdsson, E, Sirignano, L, Slaney, C, Smeland, OB, Sobell, JL, Hansen, CS, Artigas, MS, Spijker, AT, Stein, DJ, Strauss, JS, Swiatkowska, B, Terao, C, Thorgeirsson, TE, Toma, C, Tooney, P, Tsermpini, E-E, Vawter, MP, Vedder, H, Walters, JTR, Witt, SH, Xi, S, Xu, W, Yang, JMK, Young, AH, Young, H, Zandi, PP, Zhou, H, Zillich, L, Adolfsson, R, Agartz, I, Alda, M, Alfredsson, L, Babadjanova, G, Backlund, L, Baune, BT, Bellivier, F, Bengesser, S, Berrettini, WH, Blackwood, DHR, Boehnke, M, Borglum, AD, Breen, G, Carr, VJ, Catts, S, Corvin, A, Craddock, N, Dannlowski, U, Dikeos, D, Esko, T, Etain, B, Ferentinos, P, Frye, M, Fullerton, JM, Gawlik, M, Gershon, ES, Goes, F, Green, MJ, Grigoroiu-Serbanescu, M, Hauser, J, Henskens, F, Hillert, J, Hong, KS, Hougaard, DM, Hultman, CM, Hveem, K, Iwata, N, Jablensky, A, Jones, I, Jones, LA, Kahn, RS, Kelsoe, JR, Kirov, G, Landen, M, Leboyer, M, Lewis, CM, Li, QS, Lissowska, J, Lochner, C, Loughland, C, Martin, NG, Mathews, CA, Mayoral, F, McElroy, SL, McIntosh, AM, McMahon, FJ, Melle, I, Michie, P, Milani, L, Mitchell, PB, Morken, G, Mors, O, Mortensen, PB, Mowry, B, Muller-Myhsok, B, Myers, RM, Neale, BM, Nievergelt, CM, Nordentoft, M, Nothen, MM, ODonovan, MC, Oedegaard, KJ, Olsson, T, Owen, MJ, Paciga, SA, Pantelis, C, Pato, C, Pato, MT, Patrinos, GP, Perlis, RH, Posthuma, D, Ramos-Quiroga, JA, Reif, A, Reininghaus, EZ, Ribases, M, Rietschel, M, Ripke, S, Rouleau, GA, Saito, T, Schall, U, Schalling, M, Schofield, PR, Schulze, TG, Scott, LJ, Scott, RJ, Serretti, A, Weickert, CS, Smoller, JW, Stefansson, H, Stefansson, K, Stordal, E, Streit, F, Sullivan, PF, Turecki, G, Vaaler, AE, Vieta, E, Vincent, JB, Waldman, ID, Weickert, TW, Werge, T, Wray, NR, Zwart, J, Biernacka, JM, Nurnberger, J, Cichon, S, Edenberg, HJ, Stahl, EA, McQuillin, A, Di Florio, A, Ophoff, RA, and Andreassen, OA
Abstract: Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
Published: 2021

3. Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Author: Andlauer, T.F.M. (Till F. M.), Guzman-Parra, J. (Jose), Streit, F. (Fabian), Strohmaier, J. (Jana), González, M.J. (Maria José), Gil Flores, S. (Susana), Cabaleiro Fabeiro, F.J. (Francisco J.), del Río Noriega, F. (Francisco), Perez, F.P. (Fermin Perez), Haro González, J. (Jesus), Orozco Diaz, G. (Guillermo), Diego, Y. (Yolanda) de, Moreno-Küstner, B. (Berta), Auburger, G. (Georg), Degenhardt, F. (Franziska), Heilmann-Heimbach, S. (Stefanie), Herms, S. (Stefan), Hoffmann, P. (Per), Frank, J. (Josef), Foo, J.C. (Jerome C.), Treutlein, J. (Jens), Witt, S.H. (Stephanie H), Cichon, S. (Sven), Kogevinas, M. (Manolis), Stahl, E.A. (Eli A), Breen, G. (Gerome), Forstner, A.J. (Andreas J), McQuillin, A. (Andrew), Ripke, S. (Stephan), Trubetskoy, V. (Vassily), Mattheisen, M. (Manuel), Wang, Y. (Yunpeng), Coleman, J.R.I. (Jonathan R I), Gaspar, H.A. (Héléna A), Leeuw, C. (Christiaan) de, Steinberg, S. (Stacy), Pavlides, J.M.W. (Jennifer M Whitehead), Trzaskowski, M. (Maciej), Pers, T.H. (Tune H), Holmans, P.A. (Peter A.), Abbott, L. (Liam), Agerbo, E. (Esben), Akil, H. (Huda), Albani, D. (Diego), Alliey-Rodriguez, N. (Ney), Als, T.D. (Thomas D), Anjorin, A. (Adebayo), Antilla, V. (Verneri), Awasthi, S. (Swapnil), Badner, J.A. (Judith A), Bækvad-Hansen, M. (Marie), Barchas, J.D. (Jack D), Bass, N. (Nicholas), Bauer, M. (Michael), Belliveau, R.A. (Richard A.), Bergen, S.E. (Sarah), Pedersen, C.B. (C.), Bøen, E. (Erlend), Boks, M.P.M. (Marco), Boocock, J. (James), Budde, M. (Monika), Bunney, W.E. (William E), Burmeister, M., Bybjerg-Grauholm, J. (Jonas), Byerley, W.F. (William F), Casas, M. (Miquel), Cerrato, F. (Felecia), Cervantes, P. (Pablo), Chambert, K. (Kimberly), Charney, A.W. (Alexander W), Chen, D. (Danfeng), Churchhouse, C. (Claire), Clarke, T.-K. (Toni-Kim), Coryell, W.H. (William H), Craig, D.W. (David W), Cruceanu, C. (Cristiana), Czerski, P.M., Dale, A.M. (Anders), de Jong, S. (Simone), Del-Favero, J. (Jurgen), DePaulo, J.R. (J Raymond), Djurovic, S. (Srdjan), Dobbyn, A.L. (Amanda L), Dumont, A. (Ashley), Elvsåshagen, T. (Torbjørn), Escott-Price, V. (Valentina), Fan, C.C. (Chun Chieh), Fischer, S.B. (Sascha B), Flickinger, M. (Matthew), Foroud, T.M. (Tatiana M), Forty, L. (Liz), Fraser, C. (Christine), Luben, R.N. (Robert), Frisén, L. (Louise), Gade, K. (Katrin), Gage, D. (Diane), Garnham, J. (Julie), Giambartolomei, C. (Claudia), Pedersen, M.G. (Marianne Giørtz), Goldstein, J.I. (Jacqueline), Gordon, S.D. (Scott D), Gordon-Smith, K. (Katherine), Green, E.K. (Elaine K), Green, M.J. (Melissa J), Greenwood, T.A. (Tiffany A), Grove, J. (Jakob), Guan, W. (Weihua), Parra, J.G. (José Guzman), Hamshere, M.L. (Marian), Hautzinger, M. (Martin), Heilbronner, U. (Urs), Hipolito, M. (Maria), Holland, D. (Dominic), Huckins, L. (Laura), Jamain, S. (Stéphane), Johnson, J.S. (Jessica S), Juréus, A. (Anders), Kandaswamy, R. (Radhika), Karlsson, R. (Robert), Kennedy, J.L. (James L), Kittel-Schneider, S. (Sarah), Knowles, J.A. (James A), Koller, A.C. (Anna C), Kupka, R.W. (Ralph ), Lavebratt, C. (Catharina), Lawrence, J. (Jacob), Lawson, W.B. (William B), Leber, I. (Isabelle), Lee, P.H. (Phil H), Levy, S.E. (Shawn E), Li, J.Z. (Jun Z), Liu, C. (Chunyu), Lucae, S. (Susanne), Maaser, A. (Anna), Macintyre, D.J. (Donald J), Mahon, P.B. (Pamela B), Maier, W. (Wolfgang), Martinsson, L. (Lina), McCarroll, S.A. (Steve), McGuffin, P. (Peter), Mcinnis, M.G. (Melvin G), McKay, J.D. (James D), Medeiros, H. (Helena), Medland, S.E. (Sarah E), Meng, F. (Fan), Milani, L. (Lili), Montgomery, G.W. (Grant W), Morris, D.W. (Derek W), Mühleisen, T.W. (Thomas W), Mullins, N. (Niamh), Nguyen, H. (Hoang), Nievergelt, C.M. (Caroline M), Adolfsson, A.N. (Annelie Nordin), Nwulia, E.A. (Evaristus A), O’Donovan, C. (Claire), Loohuis, L.M.O. (Loes M Olde), Ori, A.P.S. (Anil P S), Oruc, L. (Lilijana), Ösby, U. (Urban), Perlis, R.H. (Roy H), Perry, A. (Amy), Pfennig, A. (Andrea), Potash, J.B. (James B), Purcell, S.M. (Shaun M), Regeer, E.J. (Eline Janet), Reif, A. (Andreas), Reinbold, C.S. (Céline S), Rice, J.P. (John), Richards, A. (Alex), Rivas, F. (Fabio), Rivera, M. (Margarita), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Ryu, J. (Julie), Sánchez-Mora, C. (Cristina), Schatzberg, A.F. (Alan F), Scheftner, W.A. (William A), Schork, N.J. (Nicholas), Weickert, C.S. (Cynthia Shannon), Shehktman, T. (Tatyana), Shilling, P.D. (Paul D), Sigurdsson, E. (Engilbert), Slaney, C. (Claire), Smeland, O.B. (Olav B), Sobell, J.L. (Janet L), Hansen, C.S. (Christine Søholm), Spijker, A.T. (Anne T), Clair, D.S., Steffens, M. (Michael), Strauss, J.S. (John S), Szelinger, S. (Szabolcs), Thompson, R.C. (Robert C), EThorgeirsson, T. (Thorgeir), Vedde, H. (Helmut), Wang, W. (Weiqing), Watson, S.J. (Stanley J), Weickert, T.W. (Thomas W), Xi, S. (Simon), Xu, W. (Wei), Young, A.H. (Allan H), Zandi, P.P. (Peter P), Zhang, P. (Ping), Zöllner, S. (Sebastian), Adolfsson, R., Agartz, I. (Ingrid), Alda, M. (Martin), Backlund, L. (Lena), Baune, B.T. (Bernhard T), Bellivier, F. (Frank), Berrettini, W. (Wade), Biernacka, J.M. (Joanna M), Blackwood, D.H.R. (Douglas), Boehnke, M. (Michael), Børglum, A.D. (Anders D), Corvin, A. (Aiden), Craddock, N. (Nicholas), Daly, M.J. (Mark), Dannlowski, U. (Udo), Esko, T. (Tõnu), Etain, B. (Bruno), Frye, M.A. (Mark A), Fullerton, J.M. (Janice M), Gershon, E.S. (Elliot S), Gill, M. (Michael), Goes, F. (Fernando), Grigoroiu-Serbanescu, M. (Maria), Hauser, J. (J.), Hougaard, D.M. (David M), Hultman, C.M. (Christina), Jones, I. (Ian), Jones, L.A. (Lisa A), Kahn, R. (René), Kirov, G. (George), Landén, M. (Mikael), Leboyer, M. (Marion), Lewis, C.M. (Cathryn), Li, Q.S. (Qingqin S), Lissowska, J. (Jolanta), Martin, N.G. (Nicholas), Mayoral, F. (Fermin), McElroy, S.L. (Susan L), McIntosh, A.M. (Andrew), Mcmahon, F.J. (Francis J), Melle, I. (Ingrid), Metspalu, A. (Andres), Mitchell, P.B. (Philip B), Morken, G. (Gunnar), Mors, O. (Ole), Mortensen, P.B. (Preben Bo), Müller-Myhsok, B. (Bertram), Myers, R.H. (Richard), Neale, B.M. (Benjamin), Nimgaonkar, V. (Vishwajit), Nordentoft, M. (Merete), Nöthen, M.M. (Markus), O’Donovan, M.C. (Michael C), Oedegaard, K.J. (Ketil J), Owen, M.J. (Michael J), Paciga, S.A. (Sara A), Pato, C. (Carlos), Posthuma, D. (Danielle), Ramos-Quiroga, J.A. (Josep Antoni), Ribasés, M. (Marta), Rietschel, M. (Marcella), Rouleau, G.A. (Guy A), Schalling, M. (Martin), Schofield, P.R. (Peter R), Schulze, T.G. (Thomas G), Serretti, A. (Alessandro), Smoller, J.W., Stefansson, H. (Hreinn), Zwart, J-A. (John-Anker), Stordal, E. (Eystein), Sullivan, P.F. (Patrick F), Turecki, G. (Gustavo), Vaaler, A.E. (Arne E), Vieta, E. (Eduard), Vincent, J.B. (John B), Werge, T.M. (Thomas), Nurnberger, J.I. (John I), Wray, N.R. (Naomi), Florio, A.D. (Arianna Di), Edenberg, H.J. (Howard), Ophoff, R.A. (Roel), Scott, L.J. (Laura J), Andreassen, O.A. (Ole), Kelsoe, J.R. (John), Sklar, P. (Pamela), Wray, N.R. (Naomi R), Byrne, E.M. (Enda), Abdellaoui, A. (Abdel), Adams, M.J. (Mark J), Air, T.M. (Tracy M), Bacanu, S.A. (Silviu), Beekman, A.T.F. (Aartjan), Bigdeli, T.B. (Tim B), Binder, E.B. (Elisabeth), Bryois, J. (Julien), Buttenschøn, H.N. (Henriette N), Cai, N. (Na), Castelao, E. (Enrique), Christensen, J.H. (Jane Hvarregaard), Clarke, T.-K., Colodro-Conde, L. (Lucía), Couvy-Duchesne, B. (Baptiste), Craddock, N.J. (Nick), Crawford, G.E. (Gregory E), Davies, G. (Gail), Deary, I.J. (Ian J), Degenhardt, F., Derks, E.M. (Eske M), Direk, N. (Nese), Dolan, C.V. (Conor), Dunn, E.C. (Erin C.), Eley, T.C. (T.), Kiadeh, F.F.H. (Farnush Farhadi Hassan), Finucane, H.K. (Hilary K), Foo, J.C. (Jerome C), Goes, F.S. (Fernando S), Gordon, S.D. (Scott D.), Hall, L.S. (Lynsey S), Hansen, T.F. (Thomas F), Hickie, I.B. (Ian), Homuth, G. (Georg), Horn, C. (Carsten), Hottenga, J.J. (Jouke Jan), Hougaard, D.M. (David), Howard, D.M. (David M), Ising, M. (Marcus), Jansen, R. (Rick), Jones, I., Jones, L. (Louisa), Jorgenson, E. (Eric), Kohane, I.S. (Isaac S), Kraft, J. (Julia), Kretzschmar, W.W. (Warren W.), Kutalik, Z. (Zoltán), Li, Y. (Yihan), Lind, P.A. (Penelope), MacIntyre, D.J. (Donald J), MacKinnon, D.F. (Dean F), Maier, R.M. (Robert M), Marchini, J. (Jonathan), Mbarek, H., McGrath, P. (Patrick), Mcguffin, P. (Peter), Medland, S.E. (Sarah), Mehta, D. (Divya), Middeldorp, C.M. (Christel M), Mihailov, E. (Evelin), Milaneschi, Y. (Yuri), Mondimore, F.M. (Francis M), Montgomery, G.W. (Grant), Mostafavi, S. (Sara), Nauck, M. (Matthias), Ng, B. (Bernard), Nivard, M. (Michel), Nyholt, D.R. (Dale), O’Reilly, P.F. (Paul F), Oskarsson, H. (Hogni), Owen, M.J. (Michael), Painter, J.N. (Jodie N.), Pedersen, C.B. (Carsten Bøcker), Peterson, R.E. (Roseann E), Pettersson, E. (Erik), Peyrot, W.J. (Wouter ), Pistis, G. (Giorgio), Quiroz, J.A. (Jorge A), Qvist, P. (Per), Rice, J.P. (John P), Riley, B.P. (Brien P.), Mirza, S.S. (Saira), Schoevers, R. (Robert), Schulte, E.C. (Eva C), Shen, L. (Li), Shi, J. (Jianxin), Shyn, S.I. (Stanley I), Sinnamon, G.C.B. (Grant C B), Smith, A.V. (Davey), Smith, D.J. (Daniel J), Tansey, K.E., Teismann, H. (Henning), Teumer, A. (Alexander), Thompson, W.K. (Wesley K.), Thomson, P.A. (Pippa A), Thorgeirsson, T.E. (Thorgeir E), Traylor, M. (Matthew), Uitterlinden, A.G. (André), Umbricht, D. (Daniel), Van der Auwera, S. (Sandra), van Hemert, A.M. (Albert M), Viktorin, A. (Alexander), Visscher, P.M. (Peter M), Webb, B.T. (Bradley T.), Weinsheimer, S.M. (Shantel Marie), Wellmann, J. (Jürgen), Willemsen, G.A.H.M. (Gonneke), Wu, Y. (Yang), Xi, H.S. (Hualin S), Yang, J. (Joanna), Zhang, F. (Futao), Arolt, V. (Volker), Baune, B.T., Berger, K. (Klaus), Boomsma, D.I. (Dorret), Geus, E.J.C. (Eco) de, Domenici, E. (Enrico), Domschke, K. (Katharina), Grabe, H.J. (Hans Jörgen), Hamilton, S.P. (Steven P), Hayward, C. (Caroline), Heath, A.C. (Andrew), Jablensky, A. (Assen), Kloiber, S. (Stefan), Lewis, G., Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Martin, N.G. (Nicholas G), McIntosh, A.M. (Andrew M), Mors, O., Müller-Myhsok, B. (B.), Nöthen, M.M. (Markus M), Pedersen, N.L. (Nancy), Penninx, B.W.J.H. (Brenda), Porteous, D.J. (David J.), Preisig, M. (Martin), Schaefer, C. (Catherine), Smoller, J.W. (Jordan W), Stefansson, K. (Kari), Tiemeier, H.W. (Henning), Uher, R. (Rudolf), Völzke, H. (Henry), Weissman, M.M., Werge, T. (Thomas), Lewis, C.M. (Cathryn M), Levinson, D.F. (Douglas F.), Borglum, A.D. (Anders), Sullivan, P.F. (Patrick), Mayoral, F. (Fermín), Muller-Myhsok, B. (B.), Forstner, A.J. (Andreas J.), Nöthen, M.M. (Markus M.), Andlauer, T.F.M. (Till F. M.), Guzman-Parra, J. (Jose), Streit, F. (Fabian), Strohmaier, J. (Jana), González, M.J. (Maria José), Gil Flores, S. (Susana), Cabaleiro Fabeiro, F.J. (Francisco J.), del Río Noriega, F. (Francisco), Perez, F.P. (Fermin Perez), Haro González, J. (Jesus), Orozco Diaz, G. (Guillermo), Diego, Y. (Yolanda) de, Moreno-Küstner, B. (Berta), Auburger, G. (Georg), Degenhardt, F. (Franziska), Heilmann-Heimbach, S. (Stefanie), Herms, S. (Stefan), Hoffmann, P. (Per), Frank, J. (Josef), Foo, J.C. (Jerome C.), Treutlein, J. (Jens), Witt, S.H. (Stephanie H), Cichon, S. (Sven), Kogevinas, M. (Manolis), Stahl, E.A. (Eli A), Breen, G. (Gerome), Forstner, A.J. (Andreas J), McQuillin, A. (Andrew), Ripke, S. (Stephan), Trubetskoy, V. (Vassily), Mattheisen, M. (Manuel), Wang, Y. (Yunpeng), Coleman, J.R.I. (Jonathan R I), Gaspar, H.A. (Héléna A), Leeuw, C. (Christiaan) de, Steinberg, S. (Stacy), Pavlides, J.M.W. (Jennifer M Whitehead), Trzaskowski, M. (Maciej), Pers, T.H. (Tune H), Holmans, P.A. (Peter A.), Abbott, L. (Liam), Agerbo, E. (Esben), Akil, H. (Huda), Albani, D. (Diego), Alliey-Rodriguez, N. (Ney), Als, T.D. (Thomas D), Anjorin, A. (Adebayo), Antilla, V. (Verneri), Awasthi, S. (Swapnil), Badner, J.A. (Judith A), Bækvad-Hansen, M. (Marie), Barchas, J.D. (Jack D), Bass, N. (Nicholas), Bauer, M. (Michael), Belliveau, R.A. (Richard A.), Bergen, S.E. (Sarah), Pedersen, C.B. (C.), Bøen, E. (Erlend), Boks, M.P.M. (Marco), Boocock, J. (James), Budde, M. (Monika), Bunney, W.E. (William E), Burmeister, M., Bybjerg-Grauholm, J. (Jonas), Byerley, W.F. (William F), Casas, M. (Miquel), Cerrato, F. (Felecia), Cervantes, P. (Pablo), Chambert, K. (Kimberly), Charney, A.W. (Alexander W), Chen, D. (Danfeng), Churchhouse, C. (Claire), Clarke, T.-K. (Toni-Kim), Coryell, W.H. (William H), Craig, D.W. (David W), Cruceanu, C. (Cristiana), Czerski, P.M., Dale, A.M. (Anders), de Jong, S. (Simone), Del-Favero, J. (Jurgen), DePaulo, J.R. (J Raymond), Djurovic, S. (Srdjan), Dobbyn, A.L. (Amanda L), Dumont, A. (Ashley), Elvsåshagen, T. (Torbjørn), Escott-Price, V. (Valentina), Fan, C.C. (Chun Chieh), Fischer, S.B. (Sascha B), Flickinger, M. (Matthew), Foroud, T.M. (Tatiana M), Forty, L. (Liz), Fraser, C. (Christine), Luben, R.N. (Robert), Frisén, L. (Louise), Gade, K. (Katrin), Gage, D. (Diane), Garnham, J. (Julie), Giambartolomei, C. (Claudia), Pedersen, M.G. (Marianne Giørtz), Goldstein, J.I. (Jacqueline), Gordon, S.D. (Scott D), Gordon-Smith, K. (Katherine), Green, E.K. (Elaine K), Green, M.J. (Melissa J), Greenwood, T.A. (Tiffany A), Grove, J. (Jakob), Guan, W. (Weihua), Parra, J.G. (José Guzman), Hamshere, M.L. (Marian), Hautzinger, M. (Martin), Heilbronner, U. (Urs), Hipolito, M. (Maria), Holland, D. (Dominic), Huckins, L. (Laura), Jamain, S. (Stéphane), Johnson, J.S. (Jessica S), Juréus, A. (Anders), Kandaswamy, R. (Radhika), Karlsson, R. (Robert), Kennedy, J.L. (James L), Kittel-Schneider, S. (Sarah), Knowles, J.A. (James A), Koller, A.C. (Anna C), Kupka, R.W. (Ralph ), Lavebratt, C. (Catharina), Lawrence, J. (Jacob), Lawson, W.B. (William B), Leber, I. (Isabelle), Lee, P.H. (Phil H), Levy, S.E. (Shawn E), Li, J.Z. (Jun Z), Liu, C. (Chunyu), Lucae, S. (Susanne), Maaser, A. (Anna), Macintyre, D.J. (Donald J), Mahon, P.B. (Pamela B), Maier, W. (Wolfgang), Martinsson, L. (Lina), McCarroll, S.A. (Steve), McGuffin, P. (Peter), Mcinnis, M.G. (Melvin G), McKay, J.D. (James D), Medeiros, H. (Helena), Medland, S.E. (Sarah E), Meng, F. (Fan), Milani, L. (Lili), Montgomery, G.W. (Grant W), Morris, D.W. (Derek W), Mühleisen, T.W. (Thomas W), Mullins, N. (Niamh), Nguyen, H. (Hoang), Nievergelt, C.M. (Caroline M), Adolfsson, A.N. (Annelie Nordin), Nwulia, E.A. (Evaristus A), O’Donovan, C. (Claire), Loohuis, L.M.O. (Loes M Olde), Ori, A.P.S. (Anil P S), Oruc, L. (Lilijana), Ösby, U. (Urban), Perlis, R.H. (Roy H), Perry, A. (Amy), Pfennig, A. (Andrea), Potash, J.B. (James B), Purcell, S.M. (Shaun M), Regeer, E.J. (Eline Janet), Reif, A. (Andreas), Reinbold, C.S. (Céline S), Rice, J.P. (John), Richards, A. (Alex), Rivas, F. (Fabio), Rivera, M. (Margarita), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Ryu, J. (Julie), Sánchez-Mora, C. (Cristina), Schatzberg, A.F. (Alan F), Scheftner, W.A. (William A), Schork, N.J. (Nicholas), Weickert, C.S. (Cynthia Shannon), Shehktman, T. (Tatyana), Shilling, P.D. (Paul D), Sigurdsson, E. (Engilbert), Slaney, C. (Claire), Smeland, O.B. (Olav B), Sobell, J.L. (Janet L), Hansen, C.S. (Christine Søholm), Spijker, A.T. (Anne T), Clair, D.S., Steffens, M. (Michael), Strauss, J.S. (John S), Szelinger, S. (Szabolcs), Thompson, R.C. (Robert C), EThorgeirsson, T. (Thorgeir), Vedde, H. (Helmut), Wang, W. (Weiqing), Watson, S.J. (Stanley J), Weickert, T.W. (Thomas W), Xi, S. (Simon), Xu, W. (Wei), Young, A.H. (Allan H), Zandi, P.P. (Peter P), Zhang, P. (Ping), Zöllner, S. (Sebastian), Adolfsson, R., Agartz, I. (Ingrid), Alda, M. (Martin), Backlund, L. (Lena), Baune, B.T. (Bernhard T), Bellivier, F. (Frank), Berrettini, W. (Wade), Biernacka, J.M. (Joanna M), Blackwood, D.H.R. (Douglas), Boehnke, M. (Michael), Børglum, A.D. (Anders D), Corvin, A. (Aiden), Craddock, N. (Nicholas), Daly, M.J. (Mark), Dannlowski, U. (Udo), Esko, T. (Tõnu), Etain, B. (Bruno), Frye, M.A. (Mark A), Fullerton, J.M. (Janice M), Gershon, E.S. (Elliot S), Gill, M. (Michael), Goes, F. (Fernando), Grigoroiu-Serbanescu, M. (Maria), Hauser, J. (J.), Hougaard, D.M. (David M), Hultman, C.M. (Christina), Jones, I. (Ian), Jones, L.A. (Lisa A), Kahn, R. (René), Kirov, G. (George), Landén, M. (Mikael), Leboyer, M. (Marion), Lewis, C.M. (Cathryn), Li, Q.S. (Qingqin S), Lissowska, J. (Jolanta), Martin, N.G. (Nicholas), Mayoral, F. (Fermin), McElroy, S.L. (Susan L), McIntosh, A.M. (Andrew), Mcmahon, F.J. (Francis J), Melle, I. (Ingrid), Metspalu, A. (Andres), Mitchell, P.B. (Philip B), Morken, G. (Gunnar), Mors, O. (Ole), Mortensen, P.B. (Preben Bo), Müller-Myhsok, B. (Bertram), Myers, R.H. (Richard), Neale, B.M. (Benjamin), Nimgaonkar, V. (Vishwajit), Nordentoft, M. (Merete), Nöthen, M.M. (Markus), O’Donovan, M.C. (Michael C), Oedegaard, K.J. (Ketil J), Owen, M.J. (Michael J), Paciga, S.A. (Sara A), Pato, C. (Carlos), Posthuma, D. (Danielle), Ramos-Quiroga, J.A. (Josep Antoni), Ribasés, M. (Marta), Rietschel, M. (Marcella), Rouleau, G.A. (Guy A), Schalling, M. (Martin), Schofield, P.R. (Peter R), Schulze, T.G. (Thomas G), Serretti, A. (Alessandro), Smoller, J.W., Stefansson, H. (Hreinn), Zwart, J-A. (John-Anker), Stordal, E. (Eystein), Sullivan, P.F. (Patrick F), Turecki, G. (Gustavo), Vaaler, A.E. (Arne E), Vieta, E. (Eduard), Vincent, J.B. (John B), Werge, T.M. (Thomas), Nurnberger, J.I. (John I), Wray, N.R. (Naomi), Florio, A.D. (Arianna Di), Edenberg, H.J. (Howard), Ophoff, R.A. (Roel), Scott, L.J. (Laura J), Andreassen, O.A. (Ole), Kelsoe, J.R. (John), Sklar, P. (Pamela), Wray, N.R. (Naomi R), Byrne, E.M. (Enda), Abdellaoui, A. (Abdel), Adams, M.J. (Mark J), Air, T.M. (Tracy M), Bacanu, S.A. (Silviu), Beekman, A.T.F. (Aartjan), Bigdeli, T.B. (Tim B), Binder, E.B. (Elisabeth), Bryois, J. (Julien), Buttenschøn, H.N. (Henriette N), Cai, N. (Na), Castelao, E. (Enrique), Christensen, J.H. (Jane Hvarregaard), Clarke, T.-K., Colodro-Conde, L. (Lucía), Couvy-Duchesne, B. (Baptiste), Craddock, N.J. (Nick), Crawford, G.E. (Gregory E), Davies, G. (Gail), Deary, I.J. (Ian J), Degenhardt, F., Derks, E.M. (Eske M), Direk, N. (Nese), Dolan, C.V. (Conor), Dunn, E.C. (Erin C.), Eley, T.C. (T.), Kiadeh, F.F.H. (Farnush Farhadi Hassan), Finucane, H.K. (Hilary K), Foo, J.C. (Jerome C), Goes, F.S. (Fernando S), Gordon, S.D. (Scott D.), Hall, L.S. (Lynsey S), Hansen, T.F. (Thomas F), Hickie, I.B. (Ian), Homuth, G. (Georg), Horn, C. (Carsten), Hottenga, J.J. (Jouke Jan), Hougaard, D.M. (David), Howard, D.M. (David M), Ising, M. (Marcus), Jansen, R. (Rick), Jones, I., Jones, L. (Louisa), Jorgenson, E. (Eric), Kohane, I.S. (Isaac S), Kraft, J. (Julia), Kretzschmar, W.W. (Warren W.), Kutalik, Z. (Zoltán), Li, Y. (Yihan), Lind, P.A. (Penelope), MacIntyre, D.J. (Donald J), MacKinnon, D.F. (Dean F), Maier, R.M. (Robert M), Marchini, J. (Jonathan), Mbarek, H., McGrath, P. (Patrick), Mcguffin, P. (Peter), Medland, S.E. (Sarah), Mehta, D. (Divya), Middeldorp, C.M. (Christel M), Mihailov, E. (Evelin), Milaneschi, Y. (Yuri), Mondimore, F.M. (Francis M), Montgomery, G.W. (Grant), Mostafavi, S. (Sara), Nauck, M. (Matthias), Ng, B. (Bernard), Nivard, M. (Michel), Nyholt, D.R. (Dale), O’Reilly, P.F. (Paul F), Oskarsson, H. (Hogni), Owen, M.J. (Michael), Painter, J.N. (Jodie N.), Pedersen, C.B. (Carsten Bøcker), Peterson, R.E. (Roseann E), Pettersson, E. (Erik), Peyrot, W.J. (Wouter ), Pistis, G. (Giorgio), Quiroz, J.A. (Jorge A), Qvist, P. (Per), Rice, J.P. (John P), Riley, B.P. (Brien P.), Mirza, S.S. (Saira), Schoevers, R. (Robert), Schulte, E.C. (Eva C), Shen, L. (Li), Shi, J. (Jianxin), Shyn, S.I. (Stanley I), Sinnamon, G.C.B. (Grant C B), Smith, A.V. (Davey), Smith, D.J. (Daniel J), Tansey, K.E., Teismann, H. (Henning), Teumer, A. (Alexander), Thompson, W.K. (Wesley K.), Thomson, P.A. (Pippa A), Thorgeirsson, T.E. (Thorgeir E), Traylor, M. (Matthew), Uitterlinden, A.G. (André), Umbricht, D. (Daniel), Van der Auwera, S. (Sandra), van Hemert, A.M. (Albert M), Viktorin, A. (Alexander), Visscher, P.M. (Peter M), Webb, B.T. (Bradley T.), Weinsheimer, S.M. (Shantel Marie), Wellmann, J. (Jürgen), Willemsen, G.A.H.M. (Gonneke), Wu, Y. (Yang), Xi, H.S. (Hualin S), Yang, J. (Joanna), Zhang, F. (Futao), Arolt, V. (Volker), Baune, B.T., Berger, K. (Klaus), Boomsma, D.I. (Dorret), Geus, E.J.C. (Eco) de, Domenici, E. (Enrico), Domschke, K. (Katharina), Grabe, H.J. (Hans Jörgen), Hamilton, S.P. (Steven P), Hayward, C. (Caroline), Heath, A.C. (Andrew), Jablensky, A. (Assen), Kloiber, S. (Stefan), Lewis, G., Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Martin, N.G. (Nicholas G), McIntosh, A.M. (Andrew M), Mors, O., Müller-Myhsok, B. (B.), Nöthen, M.M. (Markus M), Pedersen, N.L. (Nancy), Penninx, B.W.J.H. (Brenda), Porteous, D.J. (David J.), Preisig, M. (Martin), Schaefer, C. (Catherine), Smoller, J.W. (Jordan W), Stefansson, K. (Kari), Tiemeier, H.W. (Henning), Uher, R. (Rudolf), Völzke, H. (Henry), Weissman, M.M., Werge, T. (Thomas), Lewis, C.M. (Cathryn M), Levinson, D.F. (Douglas F.), Borglum, A.D. (Anders), Sullivan, P.F. (Patrick), Mayoral, F. (Fermín), Muller-Myhsok, B. (B.), Forstner, A.J. (Andreas J.), and Nöthen, M.M. (Markus M.)
Abstract: Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development.
Published: 2019
Full Text: View/download PDF

4. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

Author: Mühleisen, TW, Reinbold, CS, Forstner, AJ, Abramova, LI, Alda, M, Babadjanova, G, Bauer, M, Brennan, P, Chuchalin, A, Cruceanu, C, Czerski, PM, Degenhardt, F, Fischer, SB, Fullerton, JM ; https://orcid.org/0000-0003-4014-4490, Gordon, SD, Grigoroiu-Serbanescu, M, Grof, P, Hauser, J, Hautzinger, M, Herms, S, Hoffmann, P, Kammerer-Ciernioch, J, Khusnutdinova, E, Kogevinas, M, Krasnov, V, Lacour, A, Laprise, C, Leber, M, Lissowska, J, Lucae, S, Maaser, A, Maier, W, Martin, NG, Mattheisen, M, Mayoral, F, McKay, JD, Medland, SE, Mitchell, PB ; https://orcid.org/0000-0002-7954-5235, Moebus, S, Montgomery, GW, Müller-Myhsok, B, Oruc, L, Pantelejeva, G, Pfennig, A, Pojskic, L, Polonikov, A, Reif, A, Rivas, F, Rouleau, GA, Schenk, LM, Schofield, PR ; https://orcid.org/0000-0003-2967-9662, Schwarz, M, Streit, F, Strohmaier, J, Szeszenia-Dabrowska, N, Tiganov, AS, Treutlein, J, Turecki, G, Vedder, H, Witt, SH, Schulze, TG, Rietschel, M, Nöthen, MM, Cichon, S, Mühleisen, TW, Reinbold, CS, Forstner, AJ, Abramova, LI, Alda, M, Babadjanova, G, Bauer, M, Brennan, P, Chuchalin, A, Cruceanu, C, Czerski, PM, Degenhardt, F, Fischer, SB, Fullerton, JM ; https://orcid.org/0000-0003-4014-4490, Gordon, SD, Grigoroiu-Serbanescu, M, Grof, P, Hauser, J, Hautzinger, M, Herms, S, Hoffmann, P, Kammerer-Ciernioch, J, Khusnutdinova, E, Kogevinas, M, Krasnov, V, Lacour, A, Laprise, C, Leber, M, Lissowska, J, Lucae, S, Maaser, A, Maier, W, Martin, NG, Mattheisen, M, Mayoral, F, McKay, JD, Medland, SE, Mitchell, PB ; https://orcid.org/0000-0002-7954-5235, Moebus, S, Montgomery, GW, Müller-Myhsok, B, Oruc, L, Pantelejeva, G, Pfennig, A, Pojskic, L, Polonikov, A, Reif, A, Rivas, F, Rouleau, GA, Schenk, LM, Schofield, PR ; https://orcid.org/0000-0003-2967-9662, Schwarz, M, Streit, F, Strohmaier, J, Szeszenia-Dabrowska, N, Tiganov, AS, Treutlein, J, Turecki, G, Vedder, H, Witt, SH, Schulze, TG, Rietschel, M, Nöthen, MM, and Cichon, S
Abstract: Background Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci. Methods We conducted gene set enrichment analyses (GSEA) using 2.3 million single-nucleotide polymorphisms, 397 Reactome pathways and 24,025 patients with BD and controls. RNA expression of implicated individual genes and gene sets were examined in post-mortem brains across lifespan. Results Two pathways showed a significant enrichment after correction for multiple comparisons in the GSEA: GRB2 events in ERBB2 signaling, for which 6 of 21 genes were BD associated (PFDR = 0.0377), and NCAM signaling for neurite out-growth, for which 11 out of 62 genes were BD associated (PFDR = 0.0451). Most pathway genes showed peaks of RNA co-expression during fetal development and infancy and mapped to neocortical areas and parts of the limbic system. Limitations Pathway associations were technically reproduced by two methods, although they were not formally replicated in independent samples. Gene expression was explored in controls but not in patients. Conclusions Pathway analysis in large GWAS data of BD and follow-up of gene expression patterns in healthy brains provide support for an involvement of neurodevelopmental processes in the etiology of this neuropsychiatric disease. Future studies are required to further evaluate the relevance of the implicated genes on pathway functioning and clinical aspects of BD.
Published: 2018

5. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Author: de Jong, S, Abdalla Diniz, MJ, Saloma, A, Gadelha, A, Santoro, ML, Ota, VK, Noto, C, Curtis, C, Newhouse, SJ, Patel, H, Hall, LS, O'Reilly, PF, Belangero, S, Bressan, RA, Breen, G, Wray, NR, Ripke, S, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Adams, MJ, Agerbo, E, Air, TM, Andlauer, TFM, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Binder, EB, Blackwood, DHR, Bryois, J, Buttenschon, HN, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Coleman, JR, Colodro-Conde, L, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Direk, N, Dolan, C, Dunn, EC, Eley, TC, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Forstner, AJ, Frank, J, Gaspar, HA, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Ising, M, Jansen, R, Jones, I, Jones, LA, Jorgenson, E, Knowles, JA, Kohane, IS, Kraft, J, Kretzschmar, WW, Krogh, J, Kutalik, Z, Li, Y, Lind, PA, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, Mcgrath, P, Mcguffin, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milaneschi, Y, Milani, L, Mondimore, FM, Montgomery, GW, Mostafavi, S, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Peyrot, WJ, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Shyn, S, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Smith, DJ, Stefansson, H, Steinberg, S, Streit, F, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, Van der Auwera, S, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Baune, BT, Berger, K, Boomsma, D, Cichon, S, Dannlowski, U, de Geus, EJC, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Grabe, HJ, Hamilton, SP, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Lewis, G, Li, QS, Lucae, S, Madden, PAF, Magnusson, PK, Martin, NG, McIntosh, AM, Metspalu, A, Mors, O, Mortensen, PB, Mueller-Myhsok, B, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Pedersen, NL, Penninx, BWJH, Perlis, RH, Porteous, DJ, Potash, JB, Preisig, M, Rietschel, M, Schaefer, C, Schulze, TG, Smoller, JW, Stefansson, K, Tiemeier, H, Uher, R, Voelzke, H, Weissman, MM, Werge, T, Lewis, CM, Levinson, DF, Borglum, AD, Sullivan, PF, Meier, S, Strauss, J, Xu, W, Vincent, JB, Matthews, K, Ferreira, M, O'Dushlaine, C, Purcell, S, Raychaudhuri, S, Ruderfer, DM, Sklar, P, Scott, LJ, Flickinger, M, Burmeister, M, Li, J, Guan, W, Absher, D, Thompson, RC, Meng, FG, Schatzberg, AF, Bunney, WE, Barchas, JD, Watson, SJ, Myers, RM, Akil, H, Boehnke, M, Chambert, K, Moran, J, Scolnick, E, Djurovic, S, Melle, I, Morken, G, Corvin, A, Anjorin, A, Kandaswamy, R, Lawrence, J, McLean, AW, Pickard, BS, Bergen, SE, Nimgaonkar, V, Landen, M, Schalling, M, Osby, U, Backlund, L, Frisen, L, Langstrom, N, Stahl, E, Dobbyn, A, Jamain, S, Etain, B, Bellivier, F, Leber, M, Maaser, A, Fischer, SB, Reinbold, CS, Kittel-Schneider, S, Fullerton, JM, Oruc, L, Para, JG, Mayoral, F, Rivas, F, Czerski, PM, Kammerer-Ciernioch, J, Vedder, H, Borrmann-Hassenbach, M, Pfennig, A, Brennan, P, McKay, JD, Kogevinas, M, Schwarz, M, Schofield, PR, Muehleisen, TW, Schumacher, J, Bauer, M, Wright, A, Mitchell, PB, Hautzinger, M, Kelsoe, JR, Greenwood, TA, Nievergelt, CM, Shilling, PD, Smith, EN, Bloss, CS, Edenberg, HJ, Koller, DL, Gershon, ES, Liu, C, Badner, JA, Scheftner, WA, Lawson, WB, Nwulia, EA, Hipolito, M, Coryell, W, Rice, J, Byerley, W, McMahon, FJ, Lohoff, FW, Zandi, PP, Mahon, PB, McInnis, MG, Zollner, S, Zhang, P, Szelinger, S, St Clair, D, Caesar, S, Gordon-Smith, K, Fraser, C, Green, EK, Grozeva, D, Hamshere, ML, Kirov, G, Nikolov, I, Collier, DA, Elkin, A, Williamson, R, Young, AH, Ferrier, IN, Milanova, V, Alda, M, Cervantes, P, Cruceanu, C, Rouleau, GA, Turecki, G, Paciga, S, Winslow, AR, Grigoroiu-Serbanescu, M, Ophoff, R, Adolfsson, R, Adolfsson, AN, Del-Favero, J, Pato, C, Biernacka, JM, Frye, MA, Morris, D, Schork, NJ, Reif, A, Lissowska, J, Hauser, J, Szeszenia-Dabrowska, N, McGhee, K, Quinn, E, Moskvina, V, Holmans, PA, Farmer, A, Kennedy, JL, Andreassen, OA, Mattingsdal, M, Bass, NJ, Gurling, H, McQuillin, A, Breuer, R, Hultman, C, Lichtenstein, P, Huckins, LM, Leboyer, M, Lathrop, M, Nurnberger, J, Steffens, M, Foroud, TM, Berrettini, WH, Craig, DW, Shi, J, de Jong, S, Abdalla Diniz, MJ, Saloma, A, Gadelha, A, Santoro, ML, Ota, VK, Noto, C, Curtis, C, Newhouse, SJ, Patel, H, Hall, LS, O'Reilly, PF, Belangero, S, Bressan, RA, Breen, G, Wray, NR, Ripke, S, Mattheisen, M, Trzaskowski, M, Byrne, EM, Abdellaoui, A, Adams, MJ, Agerbo, E, Air, TM, Andlauer, TFM, Bacanu, S-A, Baekvad-Hansen, M, Beekman, ATF, Bigdeli, TB, Binder, EB, Blackwood, DHR, Bryois, J, Buttenschon, HN, Bybjerg-Grauholm, J, Cai, N, Castelao, E, Christensen, JH, Clarke, T-K, Coleman, JR, Colodro-Conde, L, Couvy-Duchesne, B, Craddock, N, Crawford, GE, Davies, G, Deary, IJ, Degenhardt, F, Derks, EM, Direk, N, Dolan, C, Dunn, EC, Eley, TC, Escott-Price, V, Kiadeh, FFH, Finucane, HK, Forstner, AJ, Frank, J, Gaspar, HA, Gill, M, Goes, FS, Gordon, SD, Grove, J, Hansen, CS, Hansen, TF, Herms, S, Hickie, IB, Hoffmann, P, Homuth, G, Horn, C, Hottenga, J-J, Hougaard, DM, Ising, M, Jansen, R, Jones, I, Jones, LA, Jorgenson, E, Knowles, JA, Kohane, IS, Kraft, J, Kretzschmar, WW, Krogh, J, Kutalik, Z, Li, Y, Lind, PA, MacIntyre, DJ, MacKinnon, DF, Maier, RM, Maier, W, Marchini, J, Mbarek, H, Mcgrath, P, Mcguffin, P, Medland, SE, Mehta, D, Middeldorp, CM, Mihailov, E, Milaneschi, Y, Milani, L, Mondimore, FM, Montgomery, GW, Mostafavi, S, Mullins, N, Nauck, M, Ng, B, Nivard, MG, Nyholt, DR, Oskarsson, H, Owen, MJ, Painter, JN, Pedersen, CB, Pedersen, MG, Peterson, RE, Pettersson, E, Peyrot, WJ, Pistis, G, Posthuma, D, Quiroz, JA, Qvist, P, Rice, JP, Riley, BP, Rivera, M, Mirza, SS, Schoevers, R, Schulte, EC, Shen, L, Shyn, S, Sigurdsson, E, Sinnamon, GCB, Smit, JH, Smith, DJ, Stefansson, H, Steinberg, S, Streit, F, Strohmaier, J, Tansey, KE, Teismann, H, Teumer, A, Thompson, W, Thomson, PA, Thorgeirsson, TE, Traylor, M, Treutlein, J, Trubetskoy, V, Uitterlinden, AG, Umbricht, D, Van der Auwera, S, van Hemert, AM, Viktorin, A, Visscher, PM, Wang, Y, Webb, BT, Weinsheimer, SM, Wellmann, J, Willemsen, G, Witt, SH, Wu, Y, Xi, HS, Yang, J, Zhang, F, Arolt, V, Baune, BT, Berger, K, Boomsma, D, Cichon, S, Dannlowski, U, de Geus, EJC, DePaulo, JR, Domenici, E, Domschke, K, Esko, T, Grabe, HJ, Hamilton, SP, Hayward, C, Heath, AC, Kendler, KS, Kloiber, S, Lewis, G, Li, QS, Lucae, S, Madden, PAF, Magnusson, PK, Martin, NG, McIntosh, AM, Metspalu, A, Mors, O, Mortensen, PB, Mueller-Myhsok, B, Nordentoft, M, Noethen, MM, O'Donovan, MC, Paciga, SA, Pedersen, NL, Penninx, BWJH, Perlis, RH, Porteous, DJ, Potash, JB, Preisig, M, Rietschel, M, Schaefer, C, Schulze, TG, Smoller, JW, Stefansson, K, Tiemeier, H, Uher, R, Voelzke, H, Weissman, MM, Werge, T, Lewis, CM, Levinson, DF, Borglum, AD, Sullivan, PF, Meier, S, Strauss, J, Xu, W, Vincent, JB, Matthews, K, Ferreira, M, O'Dushlaine, C, Purcell, S, Raychaudhuri, S, Ruderfer, DM, Sklar, P, Scott, LJ, Flickinger, M, Burmeister, M, Li, J, Guan, W, Absher, D, Thompson, RC, Meng, FG, Schatzberg, AF, Bunney, WE, Barchas, JD, Watson, SJ, Myers, RM, Akil, H, Boehnke, M, Chambert, K, Moran, J, Scolnick, E, Djurovic, S, Melle, I, Morken, G, Corvin, A, Anjorin, A, Kandaswamy, R, Lawrence, J, McLean, AW, Pickard, BS, Bergen, SE, Nimgaonkar, V, Landen, M, Schalling, M, Osby, U, Backlund, L, Frisen, L, Langstrom, N, Stahl, E, Dobbyn, A, Jamain, S, Etain, B, Bellivier, F, Leber, M, Maaser, A, Fischer, SB, Reinbold, CS, Kittel-Schneider, S, Fullerton, JM, Oruc, L, Para, JG, Mayoral, F, Rivas, F, Czerski, PM, Kammerer-Ciernioch, J, Vedder, H, Borrmann-Hassenbach, M, Pfennig, A, Brennan, P, McKay, JD, Kogevinas, M, Schwarz, M, Schofield, PR, Muehleisen, TW, Schumacher, J, Bauer, M, Wright, A, Mitchell, PB, Hautzinger, M, Kelsoe, JR, Greenwood, TA, Nievergelt, CM, Shilling, PD, Smith, EN, Bloss, CS, Edenberg, HJ, Koller, DL, Gershon, ES, Liu, C, Badner, JA, Scheftner, WA, Lawson, WB, Nwulia, EA, Hipolito, M, Coryell, W, Rice, J, Byerley, W, McMahon, FJ, Lohoff, FW, Zandi, PP, Mahon, PB, McInnis, MG, Zollner, S, Zhang, P, Szelinger, S, St Clair, D, Caesar, S, Gordon-Smith, K, Fraser, C, Green, EK, Grozeva, D, Hamshere, ML, Kirov, G, Nikolov, I, Collier, DA, Elkin, A, Williamson, R, Young, AH, Ferrier, IN, Milanova, V, Alda, M, Cervantes, P, Cruceanu, C, Rouleau, GA, Turecki, G, Paciga, S, Winslow, AR, Grigoroiu-Serbanescu, M, Ophoff, R, Adolfsson, R, Adolfsson, AN, Del-Favero, J, Pato, C, Biernacka, JM, Frye, MA, Morris, D, Schork, NJ, Reif, A, Lissowska, J, Hauser, J, Szeszenia-Dabrowska, N, McGhee, K, Quinn, E, Moskvina, V, Holmans, PA, Farmer, A, Kennedy, JL, Andreassen, OA, Mattingsdal, M, Bass, NJ, Gurling, H, McQuillin, A, Breuer, R, Hultman, C, Lichtenstein, P, Huckins, LM, Leboyer, M, Lathrop, M, Nurnberger, J, Steffens, M, Foroud, TM, Berrettini, WH, Craig, DW, and Shi, J
Abstract: Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
Published: 2018

6. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017
Full Text: View/download PDF

7. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017
Full Text: View/download PDF

8. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017
Full Text: View/download PDF

9. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, R., Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, R., Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P = 4.42 x 10(-7)) and PKP4 (P = 8.67 x 10(-7)); and gene-set analysis yielded a significant finding for exocytosis (GO: 0006887, PFDR = 0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (r(g) = 0.28 [P = 2.99 x 10(-3)]), SCZ (r(g) = 0.34 [P = 4.37 x 10(-5)]) and MDD (r(g) = 0.57 [P = 1.04 x 10(-3)]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017

10. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, SH, Streit, F, Jungkunz, M, Frank, J, Awasthi, S, Reinbold, CS, Treutlein, J, Degenhardt, F, Forstner, AJ, Heilmann-Heimbach, S, Dietl, L, Schwarze, CE, Schendel, D, Strohmaier, J, Abdellaoui, A, Adolfsson, R, Air, TM, Akil, H, Alda, M, Alliey-Rodriguez, N, Andreassen, OA, Babadjanova, G, Bass, NJ, Bauer, M, Baune, BT, Bellivier, F, Bergen, S, Bethell, A, Biernacka, JM, Blackwood, DHR, Boks, MP, Boomsma, DI, Borglum, AD, Borrmann-Hassenbach, M, Brennan, P, Budde, M, Buttenschon, HN, Byrne, EM, Cervantes, P, Clarke, T-K, Craddock, N, Cruceanu, C, Curtis, D, Czerski, PM, Dannlowski, U, Davis, T, de Geus, EJC, Di Florio, A, Djurovic, S, Domenici, E, Edenberg, HJ, Etain, B, Fischer, SB, Forty, L, Fraser, C, Frye, MA, Fullerton, JM, Gade, K, Gershon, ES, Giegling, I, Gordon, SD, Gordon-Smith, K, Grabe, HJ, Green, EK, Greenwood, TA, Grigoroiu-Serbanescu, M, Guzman-Parra, J, Hall, LS, Hamshere, M, Hauser, J, Hautzinger, M, Heilbronner, U, Herms, S, Hitturlingappa, S, Hoffmann, P, Holmans, P, Hottenga, J-J, Jamain, S, Jones, I, Jones, LA, Jureus, A, Kahn, RS, Kammerer-Ciernioch, J, Kirov, G, Kittel-Schneider, S, Kloiber, S, Knott, SV, Kogevinas, M, Landen, M, Leber, M, Leboyer, M, Li, QS, Lissowska, J, Lucae, S, Martin, NG, Mayoral-Cleries, F, McElroy, SL, McIntosh, AM, McKay, JD, McQuillin, A, Medland, SE, Middeldorp, CM, Milaneschi, Y, Mitchell, PB, Montgomery, GW, Morken, G, Mors, O, Muehleisen, TW, Mueller-Myhsok, B, Myers, RM, Nievergelt, CM, Nurnberger, JI, O'Donovan, MC, Loohuis, LMO, Ophoff, R, Oruc, L, Owen, MJ, Paciga, SA, Penninx, BWJH, Perry, A, Pfennig, A, Potash, JB, Preisig, M, Reif, A, Rivas, F, Rouleau, GA, Schofield, PR, Schulze, TG, Schwarz, M, Scott, L, Sinnamon, GCB, Stahl, EA, Strauss, J, Turecki, G, Van der Auwera, S, Vedder, H, Vincent, JB, Willemsen, G, Witt, CC, Wray, NR, Xi, HS, Tadic, A, Dahmen, N, Schott, BH, Cichon, S, Noethen, MM, Ripke, S, Mobascher, A, Rujescu, D, Lieb, K, Roepke, S, Schmahl, C, Bohus, M, Rietschel, M, Witt, SH, Streit, F, Jungkunz, M, Frank, J, Awasthi, S, Reinbold, CS, Treutlein, J, Degenhardt, F, Forstner, AJ, Heilmann-Heimbach, S, Dietl, L, Schwarze, CE, Schendel, D, Strohmaier, J, Abdellaoui, A, Adolfsson, R, Air, TM, Akil, H, Alda, M, Alliey-Rodriguez, N, Andreassen, OA, Babadjanova, G, Bass, NJ, Bauer, M, Baune, BT, Bellivier, F, Bergen, S, Bethell, A, Biernacka, JM, Blackwood, DHR, Boks, MP, Boomsma, DI, Borglum, AD, Borrmann-Hassenbach, M, Brennan, P, Budde, M, Buttenschon, HN, Byrne, EM, Cervantes, P, Clarke, T-K, Craddock, N, Cruceanu, C, Curtis, D, Czerski, PM, Dannlowski, U, Davis, T, de Geus, EJC, Di Florio, A, Djurovic, S, Domenici, E, Edenberg, HJ, Etain, B, Fischer, SB, Forty, L, Fraser, C, Frye, MA, Fullerton, JM, Gade, K, Gershon, ES, Giegling, I, Gordon, SD, Gordon-Smith, K, Grabe, HJ, Green, EK, Greenwood, TA, Grigoroiu-Serbanescu, M, Guzman-Parra, J, Hall, LS, Hamshere, M, Hauser, J, Hautzinger, M, Heilbronner, U, Herms, S, Hitturlingappa, S, Hoffmann, P, Holmans, P, Hottenga, J-J, Jamain, S, Jones, I, Jones, LA, Jureus, A, Kahn, RS, Kammerer-Ciernioch, J, Kirov, G, Kittel-Schneider, S, Kloiber, S, Knott, SV, Kogevinas, M, Landen, M, Leber, M, Leboyer, M, Li, QS, Lissowska, J, Lucae, S, Martin, NG, Mayoral-Cleries, F, McElroy, SL, McIntosh, AM, McKay, JD, McQuillin, A, Medland, SE, Middeldorp, CM, Milaneschi, Y, Mitchell, PB, Montgomery, GW, Morken, G, Mors, O, Muehleisen, TW, Mueller-Myhsok, B, Myers, RM, Nievergelt, CM, Nurnberger, JI, O'Donovan, MC, Loohuis, LMO, Ophoff, R, Oruc, L, Owen, MJ, Paciga, SA, Penninx, BWJH, Perry, A, Pfennig, A, Potash, JB, Preisig, M, Reif, A, Rivas, F, Rouleau, GA, Schofield, PR, Schulze, TG, Schwarz, M, Scott, L, Sinnamon, GCB, Stahl, EA, Strauss, J, Turecki, G, Van der Auwera, S, Vedder, H, Vincent, JB, Willemsen, G, Witt, CC, Wray, NR, Xi, HS, Tadic, A, Dahmen, N, Schott, BH, Cichon, S, Noethen, MM, Ripke, S, Mobascher, A, Rujescu, D, Lieb, K, Roepke, S, Schmahl, C, Bohus, M, and Rietschel, M
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10-7) and PKP4 (P=8.67 × 10-7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10-3]), SCZ (rg=0.34 [P=4.37 × 10-5]) and MDD (rg=0.57 [P=1.04 × 10-3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017

11. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, R., Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, R., Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P = 4.42 x 10(-7)) and PKP4 (P = 8.67 x 10(-7)); and gene-set analysis yielded a significant finding for exocytosis (GO: 0006887, PFDR = 0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (r(g) = 0.28 [P = 2.99 x 10(-3)]), SCZ (r(g) = 0.34 [P = 4.37 x 10(-5)]) and MDD (r(g) = 0.57 [P = 1.04 x 10(-3)]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017

12. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017
Full Text: View/download PDF

13. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Author: Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., Rietschel, M., Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, Rolf, Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M., Blackwood, D. H. R., Boks, M. P., Boomsma, D. I., Borglum, A. D., Borrmann-Hassenbach, M., Brennan, P., Budde, M., Buttenschon, H. N., Byrne, E. M., Cervantes, P., Clarke, T-K, Craddock, N., Cruceanu, C., Curtis, D., Czerski, P. M., Dannlowski, U., Davis, T., de Geus, E. J. C., Di Florio, A., Djurovic, S., Domenici, E., Edenberg, H. J., Etain, B., Fischer, S. B., Forty, L., Fraser, C., Frye, M. A., Fullerton, J. M., Gade, K., Gershon, E. S., Giegling, I., Gordon, S. D., Gordon-Smith, K., Grabe, H. J., Green, E. K., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hall, L. S., Hamshere, M., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hitturlingappa, S., Hoffmann, P., Holmans, P., Hottenga, J-J, Jamain, S., Jones, I., Jones, L. A., Jureus, A., Kahn, R. S., Kammerer-Ciernioch, J., Kirov, G., Kittel-Schneider, S., Kloiber, S., Knott, S. V., Kogevinas, M., Landen, M., Leber, M., Leboyer, M., Li, Q. S., Lissowska, J., Lucae, S., Martin, N. G., Mayoral-Cleries, F., McElroy, S. L., McIntosh, A. M., McKay, J. D., McQuillin, A., Medland, S. E., Middeldorp, C. M., Milaneschi, Y., Mitchell, P. B., Montgomery, G. W., Morken, G., Mors, O., Muehleisen, T. W., Mueller-Myhsok, B., Myers, R. M., Nievergelt, C. M., Nurnberger, J. I., O'Donovan, M. C., Loohuis, L. M. O., Ophoff, R., Oruc, L., Owen, M. J., Paciga, S. A., Penninx, B. W. J. H., Perry, A., Pfennig, A., Potash, J. B., Preisig, M., Reif, A., Rivas, F., Rouleau, G. A., Schofield, P. R., Schulze, T. G., Schwarz, M., Scott, L., Sinnamon, G. C. B., Stahl, E. A., Strauss, J., Turecki, G., Van der Auwera, S., Vedder, H., Vincent, J. B., Willemsen, G., Witt, C. C., Wray, N. R., Xi, H. S., Tadic, A., Dahmen, N., Schott, B. H., Cichon, S., Noethen, M. M., Ripke, S., Mobascher, A., Rujescu, D., Lieb, K., Roepke, S., Schmahl, C., Bohus, M., and Rietschel, M.
Abstract: Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Published: 2017
Full Text: View/download PDF

14. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter association study

Author: Massat, I. Lerer, B. Souery, D. Blackwood, D. Muir, W. and Kaneva, R. Noethen, M. M. Oruc, L. Papadimitriou, G. N. and Dikeos, D. Serretti, A. Bellivier, F. Golmard, Jl and Milanova, V. Del-Favero, J. Van Broeckhoven, C. Mendlewicz, J. and Massat, I. Lerer, B. Souery, D. Blackwood, D. Muir, W. and Kaneva, R. Noethen, M. M. Oruc, L. Papadimitriou, G. N. and Dikeos, D. Serretti, A. Bellivier, F. Golmard, Jl and Milanova, V. Del-Favero, J. Van Broeckhoven, C. Mendlewicz, J.
Published: 2007

15. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter association study.

Author: Massat, Isabelle, Lerer, Bernard, Souery, Daniel, Blackwood, Douglas Hr, Muir, W, Kaneva, Radka Petrova, Nothen, M, Oruc, L, Papadimitriou, George, Dikeos, Dimitris, Serretti, A, Bellivier, F, Golmard, J L, Milanova, V, Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Lerer, Bernard, Souery, Daniel, Blackwood, Douglas Hr, Muir, W, Kaneva, Radka Petrova, Nothen, M, Oruc, L, Papadimitriou, George, Dikeos, Dimitris, Serretti, A, Bellivier, F, Golmard, J L, Milanova, V, Del-Favero, Jurgen, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Letter, Multicenter Study, info:eu-repo/semantics/published
Published: 2007

16. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter association study.

Author: Massat, Isabelle, Lerer, Bernard, Souery, Daniel, Blackwood, Douglas Hr, Muir, W, Kaneva, Radka Petrova, Nothen, M, Oruc, L, Papadimitriou, George, Dikeos, Dimitris, Serretti, A, Bellivier, F, Golmard, J L, Milanova, V, Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Lerer, Bernard, Souery, Daniel, Blackwood, Douglas Hr, Muir, W, Kaneva, Radka Petrova, Nothen, M, Oruc, L, Papadimitriou, George, Dikeos, Dimitris, Serretti, A, Bellivier, F, Golmard, J L, Milanova, V, Del-Favero, Jurgen, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Letter, Multicenter Study, info:eu-repo/semantics/published
Published: 2007

17. Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study.

Author: Dikeos, Dimitris, Papadimitriou, George, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Blackwood, Douglas Hr, Cichon, Sven, Daskalopoulou, Eugenia, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lorenzi, C, Milanova, V, Muir, W, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Soldatos, Constantin R, Stefanis, Costas N, Mendlewicz, Julien, Dikeos, Dimitris, Papadimitriou, George, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Blackwood, Douglas Hr, Cichon, Sven, Daskalopoulou, Eugenia, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lorenzi, C, Milanova, V, Muir, W, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Soldatos, Constantin R, Stefanis, Costas N, and Mendlewicz, Julien
Abstract: The possible association between phospholipase A2 gene and bipolar mood disorder was examined in 557 bipolar patients and 725 controls (all personally interviewed), recruited from seven countries (Belgium, Bulgaria, Croatia, Germany, Greece, Italy, and UK). The frequencies of the eight alleles that were identified did not differ between patients and control individuals in the whole population, while the power to detect an association based on our sample was relatively high. Some differences were noted among the various ethnic groups, but no significant trends existed, suggesting that population stratification by country may not be responsible for a type II error. On the basis of these results, mutations of the phospholipase A2 gene, at least in the region close to the polymorphism examined between exons 1 and 2, are not involved in the pathogenesis of bipolar mood disorder., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2006

18. Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study.

Author: Dikeos, Dimitris, Papadimitriou, George, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Blackwood, Douglas Hr, Cichon, Sven, Daskalopoulou, Eugenia, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lorenzi, C, Milanova, V, Muir, W, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Soldatos, Constantin R, Stefanis, Costas N, Mendlewicz, Julien, Dikeos, Dimitris, Papadimitriou, George, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Blackwood, Douglas Hr, Cichon, Sven, Daskalopoulou, Eugenia, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lorenzi, C, Milanova, V, Muir, W, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Soldatos, Constantin R, Stefanis, Costas N, and Mendlewicz, Julien
Abstract: The possible association between phospholipase A2 gene and bipolar mood disorder was examined in 557 bipolar patients and 725 controls (all personally interviewed), recruited from seven countries (Belgium, Bulgaria, Croatia, Germany, Greece, Italy, and UK). The frequencies of the eight alleles that were identified did not differ between patients and control individuals in the whole population, while the power to detect an association based on our sample was relatively high. Some differences were noted among the various ethnic groups, but no significant trends existed, suggesting that population stratification by country may not be responsible for a type II error. On the basis of these results, mutations of the phospholipase A2 gene, at least in the region close to the polymorphism examined between exons 1 and 2, are not involved in the pathogenesis of bipolar mood disorder., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2006

19. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter genetic association study

Author: Massat, I Oswald, P Souery, D Blackwood, D Kaneva, R and Lerer, B Nothen, M Oruc, L Papadimitriou, GN Serretti, A and Van Broeckhoven, C Mendlewicz, J and Massat, I Oswald, P Souery, D Blackwood, D Kaneva, R and Lerer, B Nothen, M Oruc, L Papadimitriou, GN Serretti, A and Van Broeckhoven, C Mendlewicz, J
Published: 2004

20. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large european multicenter genetic association study

Author: European college of psychopharmacology (March 2004: Nice, France), Massat, Isabelle, Oswald, Pierre, Souery, Daniel, Blackwood, Douglas Hr, Kaneva, Radka Petrova, Lerer, Bernard, Nothen, M, Oruc, L, Papadimitriou, G N, Serretti, A, Van Broeckhoven, Christine, Mendlewicz, Julien, European college of psychopharmacology (March 2004: Nice, France), Massat, Isabelle, Oswald, Pierre, Souery, Daniel, Blackwood, Douglas Hr, Kaneva, Radka Petrova, Lerer, Bernard, Nothen, M, Oruc, L, Papadimitriou, G N, Serretti, A, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: info:eu-repo/semantics/nonPublished
Published: 2004

21. Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study.

Author: Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Muir, W, Battersby, Sharon, Lerer, Beny, Segman, Ronnen H, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Lorenzi, C, Jakovljevic, M, Ivezic, Sladjana, Rietschel, Marcella, Milanova, V, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Muir, W, Battersby, Sharon, Lerer, Beny, Segman, Ronnen H, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Lorenzi, C, Jakovljevic, M, Ivezic, Sladjana, Rietschel, Marcella, Milanova, V, and Van Broeckhoven, Christine
Abstract: The available data from preclinical and pharmacological studies on the role of the serotonin transporter (5-HTT) support the hypothesis that a dysfunction in brain serotonergic system activity contributes to the vulnerability to affective disorders (AD). 5-HTT is the major site of serotonin reuptake into the presynaptic neuron, and it has been shown that the polymorphic repeat polymorphism in the 5-HTT promotor region (5-HTTLPR) may affect gene-transcription activity. 5-HTT maps to chromosome 17 at position 17q11.17-q12, and the 5-HTTLPR polymorphisms have been extensively investigated in AD with conflicting results. The present study tested the genetic contribution of the 5-HTTLPR polymorphism in a large European multicenter case-control sample, including 539 unipolar (UPAD), 572 bipolar patients (BPAD), and 821 controls (C). Our European collaboration has led to efforts to optimize a methodology that attenuates some of the major limitations of the case-control association approach. No association was found with primary psychiatric diagnosis (UPAD and BPAD) and with phenotypic traits (family history of AD, suicidal attempt, and presence of psychotic features). Our negative findings are not attributable to the lack of statistical power, and may contribute to clarify the role of 5-HTTLPR polymorphism in AD., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2004

22. HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large european multicenter genetic association study

Author: European college of psychopharmacology (March 2004: Nice, France), Massat, Isabelle, Oswald, Pierre, Souery, Daniel, Blackwood, Douglas Hr, Kaneva, Radka Petrova, Lerer, Bernard, Nothen, M, Oruc, L, Papadimitriou, G N, Serretti, A, Van Broeckhoven, Christine, Mendlewicz, Julien, European college of psychopharmacology (March 2004: Nice, France), Massat, Isabelle, Oswald, Pierre, Souery, Daniel, Blackwood, Douglas Hr, Kaneva, Radka Petrova, Lerer, Bernard, Nothen, M, Oruc, L, Papadimitriou, G N, Serretti, A, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: info:eu-repo/semantics/nonPublished
Published: 2004

23. Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study.

Author: Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Muir, W, Battersby, Sharon, Lerer, Beny, Segman, Ronnen H, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Lorenzi, C, Jakovljevic, M, Ivezic, Sladjana, Rietschel, Marcella, Milanova, V, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Muir, W, Battersby, Sharon, Lerer, Beny, Segman, Ronnen H, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Lorenzi, C, Jakovljevic, M, Ivezic, Sladjana, Rietschel, Marcella, Milanova, V, and Van Broeckhoven, Christine
Abstract: The available data from preclinical and pharmacological studies on the role of the serotonin transporter (5-HTT) support the hypothesis that a dysfunction in brain serotonergic system activity contributes to the vulnerability to affective disorders (AD). 5-HTT is the major site of serotonin reuptake into the presynaptic neuron, and it has been shown that the polymorphic repeat polymorphism in the 5-HTT promotor region (5-HTTLPR) may affect gene-transcription activity. 5-HTT maps to chromosome 17 at position 17q11.17-q12, and the 5-HTTLPR polymorphisms have been extensively investigated in AD with conflicting results. The present study tested the genetic contribution of the 5-HTTLPR polymorphism in a large European multicenter case-control sample, including 539 unipolar (UPAD), 572 bipolar patients (BPAD), and 821 controls (C). Our European collaboration has led to efforts to optimize a methodology that attenuates some of the major limitations of the case-control association approach. No association was found with primary psychiatric diagnosis (UPAD and BPAD) and with phenotypic traits (family history of AD, suicidal attempt, and presence of psychotic features). Our negative findings are not attributable to the lack of statistical power, and may contribute to clarify the role of 5-HTTLPR polymorphism in AD., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2004

24. Lack of association between the 5HT(2A) receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study

Author: Oswald, P Souery, D Massat, I Del-Favero, J Linotte, S and Papadimitriou, G Dikeos, D Kaneva, R Milanova, V and Oruc, L Ivezic, S Serretti, A Lilli, R Van Broeckhoven, C Mendlewicz, J and Oswald, P Souery, D Massat, I Del-Favero, J Linotte, S and Papadimitriou, G Dikeos, D Kaneva, R Milanova, V and Oruc, L Ivezic, S Serretti, A Lilli, R Van Broeckhoven, C Mendlewicz, J
Abstract: We report here a case-control association study with T102C polymorphism in the serotonin 2A receptor gene (HTR2A) in patients affected by unipolar affective disorder (UPAD) and in controls. A total of 284 subjects were genotyped (142 UPAD and 142 controls). All subjects were interviewed using standard diagnostic interviews and matched. A homogenous population of unipolar patients with suicidal attempt was identified. Conditional logistic regression was applied. No association of the HTR2A polymorphism was found in the overall sample of 142 UPAD-control pairs regarding allele and genotype frequencies (P = 0.36 and P = 0.52 respectively) and homo heterozygote distributions (P = 0.91). This study confirms, in a multicentric European sample, the earlier observations that the T102C HTR2A polymorphism is not associated with UPAD. Nevertheless, a type 2 statistical error cannot be excluded. Therefore, to exclude the implication of HTR2A in UPAD, this result must be replicated in larger samples and in other populations using the transmission disequilibrium test and different polymorphisms around HTR2A. (C) 2003 Elsevier B.V./ECNP. All rights reserved.
Published: 2003

25. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study

Author: Papadimitriou, GN Dikeos, DG Souery, D Del-Favero, J and Massat, I Avramopoulos, D Blairy, S Cichon, S Ivezic, S and Kaneva, R Karadima, G Lilli, R Milanova, V Nothen, M and Oruc, L Rietschel, M Serretti, A Van Broeckhoven, C and Stefanis, CN Mendlewicz, J and Papadimitriou, GN Dikeos, DG Souery, D Del-Favero, J and Massat, I Avramopoulos, D Blairy, S Cichon, S Ivezic, S and Kaneva, R Karadima, G Lilli, R Milanova, V Nothen, M and Oruc, L Rietschel, M Serretti, A Van Broeckhoven, C and Stefanis, CN Mendlewicz, J
Abstract: The co-segregation in one pedigree of bipolar affective disorder with Darier’s disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder. Psychiatr Genet 13:211-220 (C) 2003 Lippincott Williams Wilkins.
Published: 2003

26. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study.

Author: Papadimitriou, George, Dikeos, Dimitris, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Avramopoulos, Dimitrios, Blairy, Sylvie, Cichon, Sven, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lilli, R, Milanova, V, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Stefanis, Costas N, Mendlewicz, Julien, Papadimitriou, George, Dikeos, Dimitris, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Avramopoulos, Dimitrios, Blairy, Sylvie, Cichon, Sven, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lilli, R, Milanova, V, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Stefanis, Costas N, and Mendlewicz, Julien
Abstract: The co-segregation in one pedigree of bipolar affective disorder with Darier's disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2003

27. Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study.

Author: Oswald, Pierre, Souery, Daniel, Massat, Isabelle, Del-Favero, Jurgen, Linotte, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Milanova, V, Oruc, L, Ivezic, Sladjana, Serretti, A, Lilli, R, Van Broeckhoven, Christine, Mendlewicz, Julien, Oswald, Pierre, Souery, Daniel, Massat, Isabelle, Del-Favero, Jurgen, Linotte, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Milanova, V, Oruc, L, Ivezic, Sladjana, Serretti, A, Lilli, R, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: We report here a case-control association study with T102C polymorphism in the serotonin 2A receptor gene (HTR2A) in patients affected by unipolar affective disorder (UPAD) and in controls. A total of 284 subjects were genotyped (142 UPAD and 142 controls). All subjects were interviewed using standard diagnostic interviews and matched. A homogenous population of unipolar patients with suicidal attempt was identified. Conditional logistic regression was applied. No association of the HTR2A polymorphism was found in the overall sample of 142 UPAD-control pairs regarding allele and genotype frequencies (P=0.36 and P=0.52 respectively) and homo-heterozygote distributions (P=0.91). This study confirms, in a multicentric European sample, the earlier observations that the T102C HTR2A polymorphism is not associated with UPAD. Nevertheless, a type 2 statistical error cannot be excluded. Therefore, to exclude the implication of HTR2A in UPAD, this result must be replicated in larger samples and in other populations using the transmission disequilibrium test and different polymorphisms around HTR2A., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2003

28. Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study.

Author: Oswald, Pierre, Souery, Daniel, Massat, Isabelle, Del-Favero, Jurgen, Linotte, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Milanova, V, Oruc, L, Ivezic, Sladjana, Serretti, A, Lilli, R, Van Broeckhoven, Christine, Mendlewicz, Julien, Oswald, Pierre, Souery, Daniel, Massat, Isabelle, Del-Favero, Jurgen, Linotte, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Milanova, V, Oruc, L, Ivezic, Sladjana, Serretti, A, Lilli, R, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: We report here a case-control association study with T102C polymorphism in the serotonin 2A receptor gene (HTR2A) in patients affected by unipolar affective disorder (UPAD) and in controls. A total of 284 subjects were genotyped (142 UPAD and 142 controls). All subjects were interviewed using standard diagnostic interviews and matched. A homogenous population of unipolar patients with suicidal attempt was identified. Conditional logistic regression was applied. No association of the HTR2A polymorphism was found in the overall sample of 142 UPAD-control pairs regarding allele and genotype frequencies (P=0.36 and P=0.52 respectively) and homo-heterozygote distributions (P=0.91). This study confirms, in a multicentric European sample, the earlier observations that the T102C HTR2A polymorphism is not associated with UPAD. Nevertheless, a type 2 statistical error cannot be excluded. Therefore, to exclude the implication of HTR2A in UPAD, this result must be replicated in larger samples and in other populations using the transmission disequilibrium test and different polymorphisms around HTR2A., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2003

29. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study.

Author: Papadimitriou, George, Dikeos, Dimitris, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Avramopoulos, Dimitrios, Blairy, Sylvie, Cichon, Sven, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lilli, R, Milanova, V, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Stefanis, Costas N, Mendlewicz, Julien, Papadimitriou, George, Dikeos, Dimitris, Souery, Daniel, Del-Favero, Jurgen, Massat, Isabelle, Avramopoulos, Dimitrios, Blairy, Sylvie, Cichon, Sven, Ivezic, Sladjana, Kaneva, Radka Petrova, Karadima, Georgia, Lilli, R, Milanova, V, Nothen, M, Oruc, L, Rietschel, Marcella, Serretti, A, Van Broeckhoven, Christine, Stefanis, Costas N, and Mendlewicz, Julien
Abstract: The co-segregation in one pedigree of bipolar affective disorder with Darier's disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2003

30. Excess of allele1 for alpha 3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study

Author: Massat, I Souery, D Del-Favero, J Oruc, L Noethen, MM and Blackwood, D Thomson, M Muir, W Papadimitriou, GN and Dikeos, DG Kaneva, R Serretti, A Lilli, R Smeraldi, E and Jakovljevic, M Folnegovic, V Rietschel, M Milanov, V and Valente, F Van Broeckhoven, C Mendlewicz, J and Massat, I Souery, D Del-Favero, J Oruc, L Noethen, MM and Blackwood, D Thomson, M Muir, W Papadimitriou, GN and Dikeos, DG Kaneva, R Serretti, A Lilli, R Smeraldi, E and Jakovljevic, M Folnegovic, V Rietschel, M Milanov, V and Valente, F Van Broeckhoven, C Mendlewicz, J
Abstract: The available data from preclinical and pharmacological studies on the role of gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in brain GABAergic system activity contributes to the vulnerability to bipolar affective disorders (BPAD). Moreover, the localization of the alpha3 subunit GABA receptor GABRA3 gene on the Xq28, a region of interest in certain forms of bipolar illness, suggests that GABRA3 may be a candidate gene in BPAD. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentric case-control sample, matched for sex and ethnogeographical origin. Allele and genotype (in females) frequencies were compared in 185 BPAD patients and 370 controls. A significant increase of genotype 1-1 was observed in BPAD females compared to controls (P=0.0004). Furthermore, when considering recessivity of allele 1 (females with genotype 1-1 and males carrying allele 1), results were even more significant (P=0.00002). Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD.
Published: 2002

31. Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

Author: Massat, I Souery, D Del-Favero, J Van Gestel, S and Serretti, A Macciardi, F Smeraldi, E Kaneva, R and Adolfsson, R Nylander, PO Blackwood, D Muir, W and Papadimitriou, GN Dikeos, D Oruc, L Segman, RH Ivezic, S and Aschauer, H Ackenheil, M Fuchshuber, S Dam, H and Jakovljevic, M Peltonen, L Hilger, C Hentges, F Staner, L Milanova, V Jazin, E Lerer, B Van Broeckhoven, C and Mendlewicz, J and Massat, I Souery, D Del-Favero, J Van Gestel, S and Serretti, A Macciardi, F Smeraldi, E Kaneva, R and Adolfsson, R Nylander, PO Blackwood, D Muir, W and Papadimitriou, GN Dikeos, D Oruc, L Segman, RH Ivezic, S and Aschauer, H Ackenheil, M Fuchshuber, S Dam, H and Jakovljevic, M Peltonen, L Hilger, C Hentges, F Staner, L Milanova, V Jazin, E Lerer, B Van Broeckhoven, C and Mendlewicz, J
Abstract: Convincing evidence for a genetic component in the etiology of affective disorders (AD), including bipolar affective disorder (BPAD) and unipolar affective disorder (UPAD), is supported by traditional and molecular genetic studies. Most arguments lead to the complex inheritance hypothesis, suggesting that the mode of inheritance is probably not Mendelian but most likely oligogenic (or polygenic) and that the contribution of genes could be moderate or weak. The purpose of the present European multicenter study (13 centers) was to test the potential role in BPAD and UPAD of two candidate dopaminergic markers, DRD2 and DRD3, using a case-control association design. The following samples were analyzed for DRD2: 358 BPAD/358 control (C) and 133 UPAD/ 133 C subjects, and for DRD3:325 BPAD/ 325 C and 136 UPAD/136 C subjects. Patients and controls were individually matched for sex, age ( five years) and geographical origin. Evidence for significant association between BPAD and DRD2 emerged, with an over-representation of genotype 5-5 (P = 0.004) and allele 5 (P = 0.002) in BPAD cases compared to controls. No association was found for DRD2 in UPAD, and for DRD3 neither in BPAD or UPAD. Our results suggest that the DRD2 microsatellite may be in linkage disequilibrium with a nearby genetic variant involved in the susceptibility to BPAD. Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations. (C) 2002 Wiley-Liss, Inc.
Published: 2002

32. Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Van Gestel, Sofie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Oruc, L, Segman, Ronnen H, Ivezic, Sladjana, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Jakovljevic, M, Peltonen, Leena, Hilger, Christiane, Hentges, François, Staner, Luc, Milanova, V, Jazin, E, Lerer, Bernard, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Van Gestel, Sofie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Oruc, L, Segman, Ronnen H, Ivezic, Sladjana, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Jakovljevic, M, Peltonen, Leena, Hilger, Christiane, Hentges, François, Staner, Luc, Milanova, V, Jazin, E, Lerer, Bernard, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Convincing evidence for a genetic component in the etiology of affective disorders (AD), including bipolar affective disorder (BPAD) and unipolar affective disorder (UPAD), is supported by traditional and molecular genetic studies. Most arguments lead to the complex inheritance hypothesis, suggesting that the mode of inheritance is probably not Mendelian but most likely oligogenic (or polygenic) and that the contribution of genes could be moderate or weak. The purpose of the present European multicenter study (13 centers) was to test the potential role in BPAD and UPAD of two candidate dopaminergic markers, DRD2 and DRD3, using a case-control association design. The following samples were analyzed for DRD2: 358 BPAD/358 control (C) and 133 UPAD/ 133 C subjects, and for DRD3: 325 BPAD/ 325 C and 136 UPAD/136 C subjects. Patients and controls were individually matched for sex, age ( plus minus five years) and geographical origin. Evidence for significant association between BPAD and DRD2 emerged, with an over-representation of genotype 5-5 (P=0.004) and allele 5 (P=0.002) in BPAD cases compared to controls. No association was found for DRD2 in UPAD, and for DRD3 neither in BPAD or UPAD. Our results suggest that the DRD2 microsatellite may be in linkage disequilibrium with a nearby genetic variant involved in the susceptibility to BPAD. Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations., Journal Article, Multicenter Study, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2002

33. Excess of allele1 for alpha3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Noethen, M M, Blackwood, Douglas Hr, Thomson, Mike Andrew, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Smeraldi, E, Jakovljevic, M, Folnegovic, V, Rietschel, Marcella, Milanova, V, Valente Soares, Filomena, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Noethen, M M, Blackwood, Douglas Hr, Thomson, Mike Andrew, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Smeraldi, E, Jakovljevic, M, Folnegovic, V, Rietschel, Marcella, Milanova, V, Valente Soares, Filomena, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: The available data from preclinical and pharmacological studies on the role of gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in brain GABAergic system activity contributes to the vulnerability to bipolar affective disorders (BPAD). Moreover, the localization of the alpha3 subunit GABA receptor GABRA3 gene on the Xq28, a region of interest in certain forms of bipolar illness, suggests that GABRA3 may be a candidate gene in BPAD. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentric case-control sample, matched for sex and ethnogeographical origin. Allele and genotype (in females) frequencies were compared in 185 BPAD patients and 370 controls. A significant increase of genotype 1-1 was observed in BPAD females compared to controls (P=0.0004). Furthermore, when considering recessivity of allele 1 (females with genotype 1-1 and males carrying allele 1), results were even more significant (P= 0.00002). Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD., Journal Article, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2002

34. Excess of allele1 for alpha3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Noethen, M M, Blackwood, Douglas Hr, Thomson, Mike Andrew, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Smeraldi, E, Jakovljevic, M, Folnegovic, V, Rietschel, Marcella, Milanova, V, Valente Soares, Filomena, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Noethen, M M, Blackwood, Douglas Hr, Thomson, Mike Andrew, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Kaneva, Radka Petrova, Serretti, A, Lilli, R, Smeraldi, E, Jakovljevic, M, Folnegovic, V, Rietschel, Marcella, Milanova, V, Valente Soares, Filomena, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: The available data from preclinical and pharmacological studies on the role of gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in brain GABAergic system activity contributes to the vulnerability to bipolar affective disorders (BPAD). Moreover, the localization of the alpha3 subunit GABA receptor GABRA3 gene on the Xq28, a region of interest in certain forms of bipolar illness, suggests that GABRA3 may be a candidate gene in BPAD. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentric case-control sample, matched for sex and ethnogeographical origin. Allele and genotype (in females) frequencies were compared in 185 BPAD patients and 370 controls. A significant increase of genotype 1-1 was observed in BPAD females compared to controls (P=0.0004). Furthermore, when considering recessivity of allele 1 (females with genotype 1-1 and males carrying allele 1), results were even more significant (P= 0.00002). Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD., Journal Article, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2002

35. Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Van Gestel, Sofie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Oruc, L, Segman, Ronnen H, Ivezic, Sladjana, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Jakovljevic, M, Peltonen, Leena, Hilger, Christiane, Hentges, François, Staner, Luc, Milanova, V, Jazin, E, Lerer, Bernard, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Van Gestel, Sofie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, George, Dikeos, Dimitris, Oruc, L, Segman, Ronnen H, Ivezic, Sladjana, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Jakovljevic, M, Peltonen, Leena, Hilger, Christiane, Hentges, François, Staner, Luc, Milanova, V, Jazin, E, Lerer, Bernard, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Convincing evidence for a genetic component in the etiology of affective disorders (AD), including bipolar affective disorder (BPAD) and unipolar affective disorder (UPAD), is supported by traditional and molecular genetic studies. Most arguments lead to the complex inheritance hypothesis, suggesting that the mode of inheritance is probably not Mendelian but most likely oligogenic (or polygenic) and that the contribution of genes could be moderate or weak. The purpose of the present European multicenter study (13 centers) was to test the potential role in BPAD and UPAD of two candidate dopaminergic markers, DRD2 and DRD3, using a case-control association design. The following samples were analyzed for DRD2: 358 BPAD/358 control (C) and 133 UPAD/ 133 C subjects, and for DRD3: 325 BPAD/ 325 C and 136 UPAD/136 C subjects. Patients and controls were individually matched for sex, age ( plus minus five years) and geographical origin. Evidence for significant association between BPAD and DRD2 emerged, with an over-representation of genotype 5-5 (P=0.004) and allele 5 (P=0.002) in BPAD cases compared to controls. No association was found for DRD2 in UPAD, and for DRD3 neither in BPAD or UPAD. Our results suggest that the DRD2 microsatellite may be in linkage disequilibrium with a nearby genetic variant involved in the susceptibility to BPAD. Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations., Journal Article, Multicenter Study, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2002

36. Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder

Author: Lerer, B Macciardi, F Segman, RH Adolfsson, R Blackwood, D Blairy, S Del Favero, J Dikeos, DG Kaneva, R and Lilli, R Massat, I Milanova, V Muir, W Noethen, M and Oruc, L Petrova, T Papadimitriou, GN Rietschel, M and Serretti, A Souery, D Van Gestel, S Van Broeckhoven, C and Mendlewicz, J and Lerer, B Macciardi, F Segman, RH Adolfsson, R Blackwood, D Blairy, S Del Favero, J Dikeos, DG Kaneva, R and Lilli, R Massat, I Milanova, V Muir, W Noethen, M and Oruc, L Petrova, T Papadimitriou, GN Rietschel, M and Serretti, A Souery, D Van Gestel, S Van Broeckhoven, C and Mendlewicz, J
Abstract: Substantial evidence supports a role for dysfunction of brain serotonergic (5-HT) systems in the pathogenesis of major affective disorder, both unipolar (recurrent major depression) and bipolar.(1) Modification of serotonergic neurotransmission is pivotally implicated in the mechanism of action of antidepressant drugs(2) and also in the action of mood stabilizing agents, particularly lithium carbonate.(3) Accordingly, genes that code for the multiple subtypes of serotonin receptors that have been cloned and are expressed in brain,(4) are strong candidates for a role in the genetic etiology of affective illness. We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR2C) that gives rise to a cysteine to serine substitution in the N terminal extracellular domain of the receptor protein (cys23ser),(5) in 513 patients with recurrent major depression (MDD-R), 649 patients with bipolar (BP) affective disorder and 901 normal controls. The subjects were drawn from nine European countries participating in the European Collaborative Project on Affective Disorders. There was significant variation in the frequency of the HT2CR ser23 allele among the 10 population groups included in the sample (from 24.6% in Greek control subjects to 9.2% in Scots, chi (2)=20.9, df 9, P=0.01). Logistic regression analysis demonstrated that over and above this interpopulation variability, there was a significant excess of HT2CR ser23 allele carriers in patients compared to normal controls that was demonstrable for both the MDD (chi (2) = 7.34, df 1, P = 0.006) and BP (chi (2) = 5.45, df 1, P = 0.02) patients. These findings support a possible role for genetically based structural variation in 5-HT2C receptors in the pathogenesis of major affective disorder.
Published: 2001

37. Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: A multicenter association study

Author: Souery, D Van Gestel, S Massat, I Blairy, S Adolfsson, R and Blackwood, D Del-Favero, J Dikeos, D Jakovljevic, M and Kaneva, R Lattuada, E Lerer, B Lilli, L Milanova, V and Muir, W Nothen, M Oruc, L Papadimitriou, G Propping, P and Schulze, T Serretti, A Shapira, B Smeraldi, E and Stefanis, C Thomson, M Van Broeckhoven, C Mendlewicz, J and Souery, D Van Gestel, S Massat, I Blairy, S Adolfsson, R and Blackwood, D Del-Favero, J Dikeos, D Jakovljevic, M and Kaneva, R Lattuada, E Lerer, B Lilli, L Milanova, V and Muir, W Nothen, M Oruc, L Papadimitriou, G Propping, P and Schulze, T Serretti, A Shapira, B Smeraldi, E and Stefanis, C Thomson, M Van Broeckhoven, C Mendlewicz, J
Abstract: Background: Being the rate-limiting enzyme in the biosynthesis of serotonin, the tryptophan hydroxylase gene (TPH) has been considered a possible candidate gene in bipolar and unipolar affective disorders (BPAD and UPAD). Several studies have investigated the possible role of TPH polymorphisms in affective disorders and suicidal behavior. Methods: The TPH A218C polymorphism has been investigated in 927 patients (527 BPAD and 400 UPAD) and their matched healthy control subjects collected within the European Collaborative Project on Affective Disorders. Results: No difference of genotype distribution or allele distribution was found in BPAD or UPAD. No statistically significance difference was observed for allele frequency and genotypes counts. In a genotype per genotype analysis in UPAD patients with a personal history of suicide attempt, the frequency of the C-C genotype (homozygosity for the short allele) was lower in UPAD patients (24%) than in control subjects (43%) (chi (2) = 4.67, p = .03). There was no difference in allele or genotype frequency between patients presenting violent suicidal behavior (n = 48) and their matched control subjects. Conclusions: We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Homozygosity for the short allele is significantly less frequent in a subgroup of UPAD patients with a history of suicide attempt than in control subject. Biol Psychiatry 2001;49:405-409 (C) 2001 Society of Biological Psychiatry.
Published: 2001

38. Lack of association between GABRA3 and unipolar affective disorder : a multicentre study.

Author: Massat, I, Souery, D, Del-Favero, J, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, R, Kaneva, R, Papadimitriou, G, Dikeos, D, Jazin, Elena, Milanova, V, Van Broeckhoven, C, Mendlewicz, J, Massat, I, Souery, D, Del-Favero, J, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, R, Kaneva, R, Papadimitriou, G, Dikeos, D, Jazin, Elena, Milanova, V, Van Broeckhoven, C, and Mendlewicz, J
Published: 2001

39. Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association study.

Author: Souery, Daniel, Van Gestel, Sofie, Massat, Isabelle, Blairy, Sylvie, Adolfsson, Rolf, Blackwood, Douglas Hr, Del-Favero, Jurgen, Dikeos, Dimitris, Jakovljevic, M, Kaneva, Radka Petrova, Lattuada, E, Lerer, Bernard, Lilli, R, Milanova, V, Muir, W, Nothen, M, Oruc, L, Papadimitriou, George, Propping, P, Schulze, T, Serretti, A, Shapira, B, Smeraldi, E, Stefanis, Costas N, Thomson, Mike Andrew, Van Broeckhoven, Christine, Mendlewicz, Julien, Souery, Daniel, Van Gestel, Sofie, Massat, Isabelle, Blairy, Sylvie, Adolfsson, Rolf, Blackwood, Douglas Hr, Del-Favero, Jurgen, Dikeos, Dimitris, Jakovljevic, M, Kaneva, Radka Petrova, Lattuada, E, Lerer, Bernard, Lilli, R, Milanova, V, Muir, W, Nothen, M, Oruc, L, Papadimitriou, George, Propping, P, Schulze, T, Serretti, A, Shapira, B, Smeraldi, E, Stefanis, Costas N, Thomson, Mike Andrew, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: BACKGROUND: Being the rate-limiting enzyme in the biosynthesis of serotonin, the tryptophan hydroxylase gene (TPH) has been considered a possible candidate gene in bipolar and unipolar affective disorders (BPAD and UPAD). Several studies have investigated the possible role of TPH polymorphisms in affective disorders and suicidal behavior. METHODS: The TPH A218C polymorphism has been investigated in 927 patients (527 BPAD and 400 UPAD) and their matched healthy control subjects collected within the European Collaborative Project on Affective Disorders. RESULTS: No difference of genotype distribution or allele distribution was found in BPAD or UPAD. No statistically significant difference was observed for allele frequency and genotypes counts. In a genotype per genotype analysis in UPAD patients with a personal history of suicide attempt, the frequency of the C-C genotype (homozygosity for the short allele) was lower in UPAD patients (24%) than in control subjects (43%) (chi(2) = 4.67, p =.03). There was no difference in allele or genotype frequency between patients presenting violent suicidal behavior (n = 48) and their matched control subjects. CONCLUSIONS: We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Homozygosity for the short allele is significantly less frequent in a subgroup of UPAD patients with a history of suicide attempt than in control subjects., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2001

40. Lack of association between GABRA3 and unipolar affective disorder: a multicentre study.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, Rolf, Kaneva, Radka Petrova, Papadimitriou, George, Dikeos, Dimitris, Jazin, E, Milanova, V, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, Rolf, Kaneva, Radka Petrova, Papadimitriou, George, Dikeos, Dimitris, Jazin, E, Milanova, V, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Available data on gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in the brain GABAergic system activity contributes to vulnerability to affective disorders (AD), including bipolar disorder (BPAD) and unipolar disorder (UPAD). The localization of the alpha3 subunit GABA receptor (GABRA3) gene in Xq28, a region of interest for BPAD suggests that GABRA3 may be a relevant candidate gene. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentre UPAD case-control sample [UPAD (n = 106), controls (n = 212)]. Our negative results suggest that GABRA3 does not confer susceptibility nor is it in linkage disequilibrium with another close gene involved in the genetic aetiology of UPAD., Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2001

41. Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder.

Author: Lerer, Bernard, Macciardi, Fabìo, Segman, Ronnen H, Adolfsson, Rolf, Blackwood, Douglas Hr, Blairy, Sylvie, Del Favero, J, Dikeos, Dimitris, Kaneva, Radka Petrova, Lilli, R, Massat, Isabelle, Milanova, V, Muir, W, Noethen, M M, Oruc, L, Petrova, T, Papadimitriou, George, Rietschel, Marcella, Serretti, A, Souery, Daniel, Van Gestel, Sofie, Van Broeckhoven, Christine, Mendlewicz, Julien, Lerer, Bernard, Macciardi, Fabìo, Segman, Ronnen H, Adolfsson, Rolf, Blackwood, Douglas Hr, Blairy, Sylvie, Del Favero, J, Dikeos, Dimitris, Kaneva, Radka Petrova, Lilli, R, Massat, Isabelle, Milanova, V, Muir, W, Noethen, M M, Oruc, L, Petrova, T, Papadimitriou, George, Rietschel, Marcella, Serretti, A, Souery, Daniel, Van Gestel, Sofie, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Substantial evidence supports a role for dysfunction of brain serotonergic (5-HT) systems in the pathogenesis of major affective disorder, both unipolar (recurrent major depression) and bipolar.(1) Modification of serotonergic neurotransmission is pivotally implicated in the mechanism of action of antidepressant drugs(2) and also in the action of mood stabilizing agents, particularly lithium carbonate.(3) Accordingly, genes that code for the multiple subtypes of serotonin receptors that have been cloned and are expressed in brain,(4) are strong candidates for a role in the genetic etiology of affective illness. We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR2C) that gives rise to a cysteine to serine substitution in the N terminal extracellular domain of the receptor protein (cys23ser),(5) in 513 patients with recurrent major depression (MDD-R), 649 patients with bipolar (BP) affective disorder and 901 normal controls. The subjects were drawn from nine European countries participating in the European Collaborative Project on Affective Disorders. There was significant variation in the frequency of the HT2CR ser23 allele among the 10 population groups included in the sample (from 24.6% in Greek control subjects to 9.2% in Scots, chi(2) = 20.9, df 9, P = 0.01). Logistic regression analysis demonstrated that over and above this inter-population variability, there was a significant excess of HT2CR ser23 allele carriers in patients compared to normal controls that was demonstrable for both the MDD (chi(2) = 7.34, df 1, P = 0.006) and BP (chi(2) = 5.45, df 1, P = 0.02) patients. These findings support a possible role for genetically based structural variation in 5-HT2C receptors in the pathogenesis of major affective disorder., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2001

42. Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association study.

Author: Souery, Daniel, Van Gestel, Sofie, Massat, Isabelle, Blairy, Sylvie, Adolfsson, Rolf, Blackwood, Douglas Hr, Del-Favero, Jurgen, Dikeos, Dimitris, Jakovljevic, M, Kaneva, Radka Petrova, Lattuada, E, Lerer, Bernard, Lilli, R, Milanova, V, Muir, W, Nothen, M, Oruc, L, Papadimitriou, George, Propping, P, Schulze, T, Serretti, A, Shapira, B, Smeraldi, E, Stefanis, Costas N, Thomson, Mike Andrew, Van Broeckhoven, Christine, Mendlewicz, Julien, Souery, Daniel, Van Gestel, Sofie, Massat, Isabelle, Blairy, Sylvie, Adolfsson, Rolf, Blackwood, Douglas Hr, Del-Favero, Jurgen, Dikeos, Dimitris, Jakovljevic, M, Kaneva, Radka Petrova, Lattuada, E, Lerer, Bernard, Lilli, R, Milanova, V, Muir, W, Nothen, M, Oruc, L, Papadimitriou, George, Propping, P, Schulze, T, Serretti, A, Shapira, B, Smeraldi, E, Stefanis, Costas N, Thomson, Mike Andrew, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: BACKGROUND: Being the rate-limiting enzyme in the biosynthesis of serotonin, the tryptophan hydroxylase gene (TPH) has been considered a possible candidate gene in bipolar and unipolar affective disorders (BPAD and UPAD). Several studies have investigated the possible role of TPH polymorphisms in affective disorders and suicidal behavior. METHODS: The TPH A218C polymorphism has been investigated in 927 patients (527 BPAD and 400 UPAD) and their matched healthy control subjects collected within the European Collaborative Project on Affective Disorders. RESULTS: No difference of genotype distribution or allele distribution was found in BPAD or UPAD. No statistically significant difference was observed for allele frequency and genotypes counts. In a genotype per genotype analysis in UPAD patients with a personal history of suicide attempt, the frequency of the C-C genotype (homozygosity for the short allele) was lower in UPAD patients (24%) than in control subjects (43%) (chi(2) = 4.67, p =.03). There was no difference in allele or genotype frequency between patients presenting violent suicidal behavior (n = 48) and their matched control subjects. CONCLUSIONS: We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Homozygosity for the short allele is significantly less frequent in a subgroup of UPAD patients with a history of suicide attempt than in control subjects., Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2001

43. Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder.

Author: Lerer, Bernard, Macciardi, Fabìo, Segman, Ronnen H, Adolfsson, Rolf, Blackwood, Douglas Hr, Blairy, Sylvie, Del Favero, J, Dikeos, Dimitris, Kaneva, Radka Petrova, Lilli, R, Massat, Isabelle, Milanova, V, Muir, W, Noethen, M M, Oruc, L, Petrova, T, Papadimitriou, George, Rietschel, Marcella, Serretti, A, Souery, Daniel, Van Gestel, Sofie, Van Broeckhoven, Christine, Mendlewicz, Julien, Lerer, Bernard, Macciardi, Fabìo, Segman, Ronnen H, Adolfsson, Rolf, Blackwood, Douglas Hr, Blairy, Sylvie, Del Favero, J, Dikeos, Dimitris, Kaneva, Radka Petrova, Lilli, R, Massat, Isabelle, Milanova, V, Muir, W, Noethen, M M, Oruc, L, Petrova, T, Papadimitriou, George, Rietschel, Marcella, Serretti, A, Souery, Daniel, Van Gestel, Sofie, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Substantial evidence supports a role for dysfunction of brain serotonergic (5-HT) systems in the pathogenesis of major affective disorder, both unipolar (recurrent major depression) and bipolar.(1) Modification of serotonergic neurotransmission is pivotally implicated in the mechanism of action of antidepressant drugs(2) and also in the action of mood stabilizing agents, particularly lithium carbonate.(3) Accordingly, genes that code for the multiple subtypes of serotonin receptors that have been cloned and are expressed in brain,(4) are strong candidates for a role in the genetic etiology of affective illness. We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR2C) that gives rise to a cysteine to serine substitution in the N terminal extracellular domain of the receptor protein (cys23ser),(5) in 513 patients with recurrent major depression (MDD-R), 649 patients with bipolar (BP) affective disorder and 901 normal controls. The subjects were drawn from nine European countries participating in the European Collaborative Project on Affective Disorders. There was significant variation in the frequency of the HT2CR ser23 allele among the 10 population groups included in the sample (from 24.6% in Greek control subjects to 9.2% in Scots, chi(2) = 20.9, df 9, P = 0.01). Logistic regression analysis demonstrated that over and above this inter-population variability, there was a significant excess of HT2CR ser23 allele carriers in patients compared to normal controls that was demonstrable for both the MDD (chi(2) = 7.34, df 1, P = 0.006) and BP (chi(2) = 5.45, df 1, P = 0.02) patients. These findings support a possible role for genetically based structural variation in 5-HT2C receptors in the pathogenesis of major affective disorder., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2001

44. Lack of association between GABRA3 and unipolar affective disorder: a multicentre study.

Author: Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, Rolf, Kaneva, Radka Petrova, Papadimitriou, George, Dikeos, Dimitris, Jazin, E, Milanova, V, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Del-Favero, Jurgen, Oruc, L, Jakovljevic, M, Folnegovic, V, Adolfsson, Rolf, Kaneva, Radka Petrova, Papadimitriou, George, Dikeos, Dimitris, Jazin, E, Milanova, V, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: Available data on gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in the brain GABAergic system activity contributes to vulnerability to affective disorders (AD), including bipolar disorder (BPAD) and unipolar disorder (UPAD). The localization of the alpha3 subunit GABA receptor (GABRA3) gene in Xq28, a region of interest for BPAD suggests that GABRA3 may be a relevant candidate gene. In the present study, we tested the genetic contribution of the GABRA3 dinucleotide polymorphism in a European multicentre UPAD case-control sample [UPAD (n = 106), controls (n = 212)]. Our negative results suggest that GABRA3 does not confer susceptibility nor is it in linkage disequilibrium with another close gene involved in the genetic aetiology of UPAD., Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published
Published: 2001

45. Examination of potential role of dopaminergic D2, D3 and D4 receptors genes in affective disorders: a european multicentric collaborative study

Author: CINP (December 2000: Brussels, Belgium), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Milanova, V, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, G N, Dikeos, Dimitris, Oruc, L, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Peltonen, Leena, Hilger, Christiane, Staner, Luc, Hentges, François, Del Favero, J, Van Gestel, Sofie, Van Broeckhoven, Christine, Mendlewicz, Julien, CINP (December 2000: Brussels, Belgium), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Serretti, A, Macciardi, Fabìo, Smeraldi, E, Kaneva, Radka Petrova, Milanova, V, Adolfsson, Rolf, Nylander, Peter O, Blackwood, Douglas Hr, Muir, W, Papadimitriou, G N, Dikeos, Dimitris, Oruc, L, Aschauer, Harold, Ackenheil, Manfred, Fuchshuber, S, Dam, Henrik, Peltonen, Leena, Hilger, Christiane, Staner, Luc, Hentges, François, Del Favero, J, Van Gestel, Sofie, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: ed in the International journal of neuropsychopharmacology, vol. 3, suppl. 1, 2000., info:eu-repo/semantics/nonPublished
Published: 2000

46. A European multicenter association study of HTR2A receptor polymorphism in bipolar affective disorder.

Author: Massat, Isabelle, Souery, Daniel, Lipp, Olivier, Blairy, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Ackenheil, Manfred, Fuchshuber, S, Hilger, Christiane, Kaneva, Radka Petrova, Milanova, V, Verheyen, G, Raeymaekers, Paul, Staner, Luc, Oruc, L, Jakovljevic, M, Serretti, A, Macciardi, Fabìo, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Lipp, Olivier, Blairy, Sylvie, Papadimitriou, George, Dikeos, Dimitris, Ackenheil, Manfred, Fuchshuber, S, Hilger, Christiane, Kaneva, Radka Petrova, Milanova, V, Verheyen, G, Raeymaekers, Paul, Staner, Luc, Oruc, L, Jakovljevic, M, Serretti, A, Macciardi, Fabìo, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: The available data on the role of 5-HT in a variety of behaviors support the hypothesis that a dysfunction in brain serotoninergic system activity contributes to vulnerability to major depression. The diversity in the electrophysiological actions of 5-HT in the central nervous system can now be categorized according to receptor subtypes and their respective effector mechanisms. In particular, the implication of central postsynaptic 5-HT2A receptor in affective disorders has been supported by findings consistent with the hypothesis of 5-HT2A receptor up-regulation in depression. For these reasons, the 5-HT2A receptor (HTR2A) gene can be considered as a candidate gene in bipolar affective disorder (BPAD). We tested the possible genetic contribution of the polymorphic DNA variation T102C in exon 1 of HTR2A (chromosome 13q14-21) gene in a large European multicentric case-control sample. Allele and genotype frequencies, as well as homo-heterozygote distributions were compared between the two groups of 309 bipolar affective disorder patients and 309 matched controls. No significant differences were observed in the allelic and genotypic (also for homo-heterozygote) distribution between BPAD and controls. These results indicate that, in our sample, the 5-HT2A receptor polymorphism studied is unlikely to play a major role in the genetic susceptibility to BPAD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:136-140, 2000., Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2000

47. Significant association between the GABA type a receptor alpha 3 gene locus (GABRA3) and affective disorders: A multicentre study

Author: Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, George, Kaneva, Radka Petrova, Serreti, A., Achenheil, M., Staner, Luc, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, George, Kaneva, Radka Petrova, Serreti, A., Achenheil, M., Staner, Luc, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2000

48. Significant association between the GABA type A receptor a 3 gene locus (GABRA3) and affective disorders: a multicentre study

Author: Congrès de psychiatrie génétique (December 2000: Versailles, Paris), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Van Gestel, Sofie, Del Favero, J, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, G N, Kaneva, Radka Petrova, Serretti, A, Ackenheil, Manfred, Staner, Luc, Van Broeckhoven, Christine, Mendlewicz, Julien, Congrès de psychiatrie génétique (December 2000: Versailles, Paris), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Van Gestel, Sofie, Del Favero, J, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, G N, Kaneva, Radka Petrova, Serretti, A, Ackenheil, Manfred, Staner, Luc, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: ed in American Journal of medical genetics, vol. 96/4, 2000, info:eu-repo/semantics/nonPublished
Published: 2000

49. Significant association between the GABA type a receptor alpha 3 gene locus (GABRA3) and affective disorders: A multicentre study

Author: Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, George, Kaneva, Radka Petrova, Serreti, A., Achenheil, M., Staner, Luc, Van Broeckhoven, Christine, Mendlewicz, Julien, Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Del-Favero, Jurgen, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, George, Kaneva, Radka Petrova, Serreti, A., Achenheil, M., Staner, Luc, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2000

50. Significant association between the GABA type A receptor a 3 gene locus (GABRA3) and affective disorders: a multicentre study

Author: Congrès de psychiatrie génétique (December 2000: Versailles, Paris), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Van Gestel, Sofie, Del Favero, J, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, G N, Kaneva, Radka Petrova, Serretti, A, Ackenheil, Manfred, Staner, Luc, Van Broeckhoven, Christine, Mendlewicz, Julien, Congrès de psychiatrie génétique (December 2000: Versailles, Paris), Massat, Isabelle, Souery, Daniel, Blairy, Sylvie, Van Gestel, Sofie, Del Favero, J, Oruc, L, Nothen, M, Blackwood, Douglas Hr, Adolfsson, Rolf, Papadimitriou, G N, Kaneva, Radka Petrova, Serretti, A, Ackenheil, Manfred, Staner, Luc, Van Broeckhoven, Christine, and Mendlewicz, Julien
Abstract: ed in American Journal of medical genetics, vol. 96/4, 2000, info:eu-repo/semantics/nonPublished
Published: 2000

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Publication Year Range

Publication Type

Database

Publisher

59 results on '"Oruc, L."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources