Search

Your search keyword '"Juréus A"' showing total 319 results
Start Over Author "Juréus A"
319 results on '"Juréus A"'

1. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Author

Jia, Xiaoming, Goes, Fernando S, Locke, Adam E, Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U, Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M, Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z, Levy, Shawn E, Monson, Eric T, Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M, Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A, Richard McCombie, W, McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M, O'Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B, Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F, Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A, Zandi, Peter P, and Scott, Laura J

Subjects
Humans, Genetic Predisposition to Disease, Bipolar Disorder, Schizophrenia, Polymorphism, Single Nucleotide, Genetic Variation, Genome-Wide Association Study, Exome, Serious Mental Illness, Clinical Research, Brain Disorders, Genetics, Prevention, Mental Health, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals with BD and 5,322 controls of predominantly European ancestry across four cohorts from the Bipolar Sequencing Consortium (BSC). We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD. While we observed an increased burden of rare coding P-LP variants within 165 genes identified as BD GWAS regions in 3,987 BD cases (meta-analysis OR = 1.9, 95% CI = 1.3-2.8, one-sided p = 6.0 × 10-4), this enrichment did not replicate in an additional 9,929 BD cases and 14,018 controls (OR = 0.9, one-side p = 0.70). Although BD shares common variant heritability with schizophrenia, in the BSC sample we did not observe a significant enrichment of P-LP variants in SCZ GWAS genes, in two classes of neuronal synaptic genes (RBFOX2 and FMRP) associated with SCZ or in loss-of-function intolerant genes. In this study, the largest analysis of exonic variation in BD, individuals with BD do not carry a replicable enrichment of rare P-LP variants across the exome or in any of several groups of genes with biologic plausibility. Moreover, despite a strong shared susceptibility between BD and SCZ through common genetic variation, we do not observe an association between BD risk and rare P-LP coding variants in genes known to modulate risk for SCZ.

Published
2021

3. Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases

Author

Charney, Alexander W, Stahl, Eli A, Green, Elaine K, Chen, Chia-Yen, Moran, Jennifer L, Chambert, Kimberly, Belliveau, Richard A, Forty, Liz, Gordon-Smith, Katherine, Lee, Phil H, Bromet, Evelyn J, Buckley, Peter F, Escamilla, Michael A, Fanous, Ayman H, Fochtmann, Laura J, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Morley, Christopher P, Nicolini, Humberto, Perkins, Diana O, Rakofsky, Jeffrey J, Rapaport, Mark H, Medeiros, Helena, Sobell, Janet L, Backlund, Lena, Bergen, Sarah E, Juréus, Anders, Schalling, Martin, Lichtenstein, Paul, Knowles, James A, Burdick, Katherine E, Jones, Ian, Jones, Lisa A, Hultman, Christina M, Perlis, Roy, Purcell, Shaun M, McCarroll, Steven A, Pato, Carlos N, Pato, Michele T, Di Florio, Ariana, Craddock, Nick, Landén, Mikael, Smoller, Jordan W, Ruderfer, Douglas M, and Sklar, Pamela

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Genetics, Serious Mental Illness, Bipolar Disorder, Mental Health, Prevention, Brain Disorders, Schizophrenia, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Case-Control Studies, Cohort Studies, DNA Copy Number Variations, Gene Duplication, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Psychotic Disorders, Bipolar disorder, Copy number variant, Polygenic risk score, Rare variant burden, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology
Abstract

BackgroundGenetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. Subtypes of BD including schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I), and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania, and depression. The genetic factors contributing to the combination of symptoms among these subtypes are poorly understood.MethodsRare large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis, and 307 with unknown psychosis history], 1436 BD II, 579 SAB, and 505 BD not otherwise specified) and 8656 controls. CNV burden and a polygenic risk score (PRS) for schizophrenia were used to evaluate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosis.ResultsCNV burden did not differ between BD and controls when treated as a single diagnostic entity. However, burden in SAB was increased relative to controls (p = .001), BD I (p = .0003), and BD II (p = .0007). Burden and schizophrenia PRSs were increased in SAB compared with BD I with psychosis (CNV p = .0007, PRS p = .004), and BD I without psychosis (CNV p = .0004, PRS p = 3.9 × 10-5). Within BD I, psychosis was associated with increased schizophrenia PRSs (p = .005) but not CNV burden.ConclusionsCNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms.

Published
2019

4. Genome-wide association study identifies 30 loci associated with bipolar disorder

Author

Stahl, Eli A, Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan RI, Gaspar, Héléna A, de Leeuw, Christiaan A, Steinberg, Stacy, Pavlides, Jennifer M Whitehead, Trzaskowski, Maciej, Byrne, Enda M, Pers, Tune H, Holmans, Peter A, Richards, Alexander L, Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Bækvad-Hansen, Marie, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W, Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Djurovic, Srdjan, Dobbyn, Amanda L, Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B, Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Guzman-Parra, José, Hamshere, Marian L, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S, and Juréus, Anders

Subjects
Biological Sciences, Genetics, Mental Health, Mental Illness, Human Genome, Biotechnology, Bipolar Disorder, Brain Disorders, Schizophrenia, Serious Mental Illness, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Mental health, Case-Control Studies, Depressive Disorder, Major, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, Psychotic Disorders, Systems Biology, eQTLGen Consortium, BIOS Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P

Published
2019

5. 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, Børglum, AD, Borrmann-Hassenbach, M, Brennan, P, Budde, M, Buttenschøn, 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, Juréus, A, Kahn, RS, Kammerer-Ciernioch, J, Kirov, G, Kittel-Schneider, S, Kloiber, S, Knott, SV, Kogevinas, M, Landén, M, Leber, M, Leboyer, M, Li, QS, Lissowska, J, Lucae, S, Martin, NG, Mayoral-Cleries, F, McElroy, SL, McIntosh, AM, McKay, JD, and McQuillin, A

Subjects
Bipolar Disorders Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Humans, Genetic Predisposition to Disease, Case-Control Studies, Bipolar Disorder, Depressive Disorder, Major, Borderline Personality Disorder, Schizophrenia, Genotype, Multifactorial Inheritance, Adolescent, Adult, Aged, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Depressive Disorder, Major, Clinical Sciences, Public Health and Health Services, Psychology
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

7. The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls

Author

Byrne, Enda M., Forstner, Andreas J., Holmans, Peter A., de Leeuw, Christiaan A., Mattheisen, Manuel, McQuillin, Andrew, Whitehead Pavlides, Jennifer M., Pers, Tune H., Ripke, Stephan, Stahl, Eli A., Steinberg, Stacy, Trubetskoy, Vassily, Trzaskowski, Maciej, Wang, Yunpeng, Abbott, Liam, Abdellaoui, Abdel, Adams, Mark J., Adolfsson, Annelie Nordin, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Andlauer, Till F.M., Anjorin, Adebayo, Antilla, Verneri, Van der Auwera, Sandra, Awasthi, Swapnil, Bacanu, Silviu-Alin, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Beekman, Aartjan T.F., Belliveau, Richard, Bergen, Sarah E., Bigdeli, Tim B., Binder, Elisabeth B., Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Byerley, William, Cai, Na, Casas, Miquel, Castelao, Enrique, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Christensen, Jane Hvarregaard, Churchhouse, Claire, St Clair, David, Clarke, Toni-Kim, Colodro-Conde, Lucía, Coryell, William, Couvy-Duchesne, Baptiste, Craig, David W., Crawford, Gregory E., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Derks, Eske M., Direk, Nese, Djurovic, Srdjan, Dobbyn, Amanda L., Dolan, Conor V., Dumont, Ashley, Dunn, Erin C., Eley, Thalia C., Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Finucane, Hilary K., Fischer, Sascha B., Flickinger, Matthew, Foo, Jerome C., Foroud, Tatiana M., Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Goes, Fernando S., Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Hall, Lynsey S., Hamshere, Marian L., Hansen, Christine Søholm, Hansen, Thomas F., Hautzinger, Martin, Heilbronner, Urs, van Hemert, Albert M., Herms, Stefan, Hickie, Ian B., Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Huckins, Laura, Ising, Marcus, Jamain, Stéphane, Jansen, Rick, Johnson, Jessica S., de Jong, Simone, Jorgenson, Eric, Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Hassan Kiadeh, Farnush Farhadi, Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Kohane, Isaac S., Koller, Anna C., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kupka, Ralph, Kutalik, Zoltán, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Li, Yihan, Lind, Penelope A., Liu, Chunyu, Olde Loohuis, Loes M., Maaser, Anna, MacIntyre, Donald J., MacKinnon, Dean F., Mahon, Pamela B., Maier, Wolfgang, Maier, Robert M., Marchini, Jonathan, Martinsson, Lina, Mbarek, Hamdi, McCarroll, Steve, McGrath, Patrick, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Mehta, Divya, Meng, Fan, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mirza, Saira Saeed, Mondimore, Francis M., Montgomery, Grant W., Morris, Derek W., Mostafavi, Sara, Mühleisen, Thomas W., Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nguyen, Hoang, Nievergelt, Caroline M., Nivard, Michel G., Nwulia, Evaristus A., Nyholt, Dale R., O'Donovan, Claire, O'Reilly, Paul F., Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Oskarsson, Hogni, Painter, Jodie N., Parra, José Guzman, Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Perry, Amy, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pfennig, Andrea, Pistis, Giorgio, Purcell, Shaun M., Quiroz, Jorge A., Qvist, Per, Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Riley, Brien P., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schoevers, Robert, Schork, Nicholas J., Schulte, Eva C., Shehktman, Tatyana, Shen, Ling, Shi, Jianxin, Shilling, Paul D., Shyn, Stanley I., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Smit, Johannes H., Smith, Daniel J., Sobell, Janet L., Spijker, Anne T., Steffens, Michael, Strauss, John S., Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Robert C., Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Uitterlinden, André G., Umbricht, Daniel, Vedder, Helmut, Viktorin, Alexander, Visscher, Peter M., Wang, Weiqing, Watson, Stanley J., Webb, Bradley T., Weickert, Cynthia Shannon, Weickert, Thomas W., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Xu, Wei, Yang, Jian, Young, Allan H., Zandi, Peter, Zhang, Peng, Zhang, Futao, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Arolt, Volker, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berger, Klaus, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Boomsma, Dorret I., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gershon, Elliot S., de Geus, E.J.C., Gill, Michael, Goes, Fernando, Grabe, Hans J., Grigoroiu-Serbanescu, Maria, Hamilton, Steven P., Hauser, Joanna, Hayward, Caroline, Heath, Andrew C., Hougaard, David M., Hultman, Christina M., Jones, Ian, Jones, Lisa A., Kahn, René S., Kendler, Kenneth S., Kirov, George, Kloiber, Stefan, Landén, Mikael, Leboyer, Marion, Lewis, Glyn, Li, Qingqin S., Lissowska, Jolanta, Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Oedegaard, Ketil J., Owen, Michael J., Paciga, Sara A., Pato, Carlos, Pato, Michele T., Pedersen, Nancy L., Penninx, Brenda W.J. H., Perlis, Roy H., Porteous, David J., Posthuma, Danielle, Potash, James B., Preisig, Martin, Ramos-Quiroga, Josep Antoni, Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A., Schaefer, Catherine, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Serretti, Alessandro, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Tiemeier, Henning, Turecki, Gustavo, Uher, Rudolf, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Andreassen, Ole A., Børglum, Anders D., Cichon, Sven, Edenberg, Howard J., Di Florio, Arianna, Kelsoe, John, Levinson, Douglas F., Lewis, Cathryn M., Nurnberger, John I., Ophoff, Roel A., Scott, Laura J., Sklar, Pamela, Sullivan, Patrick F., Wray, Naomi R., Coleman, Jonathan R.I., Gaspar, Héléna A., Bryois, Julien, and Breen, Gerome

Published
2020
Full Text
View/download PDF

8. Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder.

Author

Charney, AW, Ruderfer, DM, Stahl, EA, Moran, JL, Chambert, K, Belliveau, RA, Forty, L, Gordon-Smith, K, Di Florio, A, Lee, PH, Bromet, EJ, Buckley, PF, Escamilla, MA, Fanous, AH, Fochtmann, LJ, Lehrer, DS, Malaspina, D, Marder, SR, Morley, CP, Nicolini, H, Perkins, DO, Rakofsky, JJ, Rapaport, MH, Medeiros, H, Sobell, JL, Green, EK, Backlund, L, Bergen, SE, Juréus, A, Schalling, M, Lichtenstein, P, Roussos, P, Knowles, JA, Jones, I, Jones, LA, Hultman, CM, Perlis, RH, Purcell, SM, McCarroll, SA, Pato, CN, Pato, MT, Craddock, N, Landén, M, Smoller, JW, and Sklar, P

Subjects
Chromosomes, Human, Pair 10, Humans, Aminopeptidases, Ankyrins, Calmodulin-Binding Proteins, Calcium Channels, L-Type, Cytoskeletal Proteins, Nerve Tissue Proteins, Nuclear Proteins, Case-Control Studies, Bipolar Disorder, Psychotic Disorders, Genotype, Phenotype, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Chromosomes, Human, Pair 10, Calcium Channels, L-Type, Polymorphism, Single Nucleotide, Clinical Sciences, Public Health and Health Services, Psychology
Abstract

We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD). Meta-analysis was performed with prior results from the Psychiatric Genomics Consortium Bipolar Disorder Working Group for a combined sample of 13 902 cases and 19 279 controls. We identified eight genome-wide significant, associated regions, including a novel associated region on chromosome 10 (rs10884920; P=3.28 × 10-8) that includes the brain-enriched cytoskeleton protein adducin 3 (ADD3), a non-coding RNA, and a neuropeptide-specific aminopeptidase P (XPNPEP1). Our large sample size allowed us to test the heritability and genetic correlation of BD subtypes and investigate their genetic overlap with schizophrenia and major depressive disorder. We found a significant difference in heritability of the two most common forms of BD (BD I SNP-h2=0.35; BD II SNP-h2=0.25; P=0.02). The genetic correlation between BD I and BD II was 0.78, whereas the genetic correlation was 0.97 when BD cohorts containing both types were compared. In addition, we demonstrated a significantly greater load of polygenic risk alleles for schizophrenia and BD in patients with BD I compared with patients with BD II, and a greater load of schizophrenia risk alleles in patients with the bipolar type of schizoaffective disorder compared with patients with either BD I or BD II. These results point to a partial difference in the genetic architecture of BD subtypes as currently defined.

Published
2017

9. An international inter-laboratory study to compare digital PCR with ISO standardized qPCR assays for the detection of norovirus GI and GII in oyster tissue

Author

Boxman, Ingeborg L.A., Molin, Ramia, Persson, Sofia, Juréus, Anna, Jansen, Claudia C.C., Sosef, Nils P., Le Guyader, Soizick F., Ollivier, Joanna, Summa, Maija, Hautaniemi, Maria, Suffredini, Elisabetta, Di Pasquale, Simona, Myrmel, Mette, Khatri, Mamata, Jamnikar-Ciglenecki, Urska, Kusar, Darja, Moor, Dominik, Butticaz, Lisa, Lowther, James A., Walker, David I., Stapleton, Tina, Simonsson, Magnus, Dirks, René A.M., Boxman, Ingeborg L.A., Molin, Ramia, Persson, Sofia, Juréus, Anna, Jansen, Claudia C.C., Sosef, Nils P., Le Guyader, Soizick F., Ollivier, Joanna, Summa, Maija, Hautaniemi, Maria, Suffredini, Elisabetta, Di Pasquale, Simona, Myrmel, Mette, Khatri, Mamata, Jamnikar-Ciglenecki, Urska, Kusar, Darja, Moor, Dominik, Butticaz, Lisa, Lowther, James A., Walker, David I., Stapleton, Tina, Simonsson, Magnus, and Dirks, René A.M.

Abstract

An optimized digital RT-PCR (RT-dPCR) assay for the detection of human norovirus GI and GII RNA was compared with ISO 15216-conform quantitative real-time RT-PCR (RT-qPCR) assays in an interlaboratory study (ILS) among eight laboratories. A duplex GI/GII RT-dPCR assay, based on the ISO 15216-oligonucleotides, was used on a Bio-Rad QX200 platform by six laboratories. Adapted assays for Qiagen Qiacuity or ThermoFisher QuantStudio 3D were used by one laboratory each. The ILS comprised quantification of norovirus RNA in the absence of matrix and in oyster tissue samples. On average, results of the RT-dPCR assays were very similar to those obtained by RT-qPCR assays. The coefficient of variation (CV%) of norovirus GI results was, however, much lower for RT-dPCR than for RT-qPCR in intra-laboratory replicates (eight runs) and between the eight laboratories. The CV% of norovirus GII results was in the same range for both detection formats. Had in-house prepared dsDNA standards been used, the CV% of norovirus GII could have been in favor of the RT-dPCR assay. The ratio between RT-dPCR and RT-qPCR results varied per laboratory, despite using the distributed RT-qPCR dsDNA standards. The study indicates that the RT-dPCR assay is likely to increase uniformity of quantitative results between laboratories.

Published
2024

10. Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches

Author

Adan, Roger, Ando, Tetsuya, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Burghardt, Roland, Cassina, Matteo, Cesta, Carolyn, Clementi, Maurizio, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Finan, Chris, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forzan, Monica, Franklin, Christopher, Gaspar, Héléna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Hendriks, Judith, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Hinney, Anke, Huckins, Laura, Hudson, James, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Juréus, Anders, Kalsi, Gursharan, Kaminska, Debora, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Doris, La Via, Maria, Landén, Mikael, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Martin, Nicholas, McDevitt, Sara, McGuffin, Peter, Merl, Elisabeth, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Mortensen, Preben, Munn-Chernoff, Melissa, Nacmias, Benedetta, Nilsson, Ida, Norring, Claes, Ntalla, Ioanna, O’Toole, Julie, Pantel, Jacques, Papezova, Hana, Parker, Richard, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicolas, Rayner, N. William, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op’t Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Sorbi, Sandro, Strengman, Eric, Strober, Michael, Sullivan, Patrick, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Alfredsson, Lars, Andreassen, Ole, Aschauer, Harald, Barrett, Jeffrey, Bencko, Vladimir, Carlberg, Laura, Cichon, Sven, Cohen-Woods, Sarah, Dina, Christian, Ding, Bo, Espeseth, Thomas, Floyd, James, Gallinger, Steven, Gambaro, Giovanni, Giegling, Ina, Herms, Stefan, Janout, Vladimir, Julià, Antonio, Klareskog, Lars, Le Hellard, Stephanie, Leboyer, Marion, Lundervold, Astri, Marsal, Sara, Mattingsdal, Morten, Navratilova, Marie, Ophoff, Roel, Palotie, Aarno, Pinto, Dalila, Ripatti, Samuli, Rujescu, Dan, Scherer, Stephen, Scott, Laura, Sladek, Robert, Soranzo, Nicole, Southam, Lorraine, Steen, Vidar, Wichmann, H-Erich, Widen, Elisabeth, Breen, Gerome, Bulik, Cynthia, Kuja-Halkola, Ralf, Martin, Joanna, Lu, Yi, Hübel, Christopher, Almqvist, Catarina, Thornton, Laura M., Magnusson, Patrik K., Bulik, Cynthia M., and Larsson, Henrik

Published
2019
Full Text
View/download PDF

11. The Anorexia Nervosa Genetics Initiative (ANGI): Overview and methods

Author

Thornton, Laura M., Munn-Chernoff, Melissa A., Baker, Jessica H., Juréus, Anders, Parker, Richard, Henders, Anjali K., Larsen, Janne T., Petersen, Liselotte, Watson, Hunna J., Yilmaz, Zeynep, Kirk, Katherine M., Gordon, Scott, Leppä, Virpi M., Martin, Felicity C., Whiteman, David C., Olsen, Catherine M., Werge, Thomas M., Pedersen, Nancy L., Kaye, Walter, Bergen, Andrew W., Halmi, Katherine A., Strober, Michael, Kaplan, Allan S., Woodside, D. Blake, Mitchell, James, Johnson, Craig L., Brandt, Harry, Crawford, Steven, Horwood, L. John, Boden, Joseph M., Pearson, John F., Duncan, Laramie E., Grove, Jakob, Mattheisen, Manuel, Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Wade, Tracey D., Montgomery, Grant W., Martin, Nicholas G., Landén, Mikael, Mortensen, Preben Bo, Sullivan, Patrick F., and Bulik, Cynthia M.

Published
2018
Full Text
View/download PDF

12. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Author

Ruderfer, Douglas M., Ripke, Stephan, McQuillin, Andrew, Boocock, James, Stahl, Eli A., Pavlides, Jennifer M. Whitehead, Mullins, Niamh, Charney, Alexander W., Ori, Anil P.S., Loohuis, Loes M. Olde, Domenici, Enrico, Di Florio, Arianna, Papiol, Sergi, Kalman, Janos L., Trubetskoy, Vassily, Adolfsson, Rolf, Agartz, Ingrid, Agerbo, Esben, Akil, Huda, Albani, Diego, Albus, Margot, Alda, Martin, Alexander, Madeline, Alliey-Rodriguez, Ney, Als, Thomas D., Amin, Farooq, Anjorin, Adebayo, Arranz, Maria J., Awasthi, Swapnil, Bacanu, Silviu A., Badner, Judith A., Baekvad-Hansen, Marie, Bakker, Steven, Band, Gavin, Barchas, Jack D., Barroso, Ines, Bass, Nicholas, Bauer, Michael, Baune, Bernhard T., Begemann, Martin, Bellenguez, Celine, Belliveau, Richard A., Jr., Bellivier, Frank, Bender, Stephan, Bene, Judit, Bergen, Sarah E., Berrettini, Wade H., Bevilacqua, Elizabeth, Biernacka, Joanna M., Bigdeli, Tim B., Black, Donald W., Blackburn, Hannah, Blackwell, Jenefer M., Blackwood, Douglas H.R., Pedersen, Carsten Bocker, Boehnke, Michael, Boks, Marco, Borglum, Anders D., Bramon, Elvira, Breen, Gerome, Brown, Matthew A., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Budde, Monika, Bulik-Sullivan, Brendan, Bumpstead, Suzannah J., Bunney, William, Burmeister, Margit, Buxbaum, Joseph D., Bybjerg-Grauholm, Jonas, Byerley, William, Cahn, Wiepke, Cai, Guiqing, Cairns, Murray J., Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Casas, Juan P., Casas, Miquel, Catts, Stanley V., Cervantes, Pablo, Chambert, Kimberley D., Chan, Raymond C.K., Chen, Eric Y.H., Chen, Ronald Y.L., Cheng, Wei, Cheung, Eric F.C., Chong, Siow Ann, Clarke, Toni-Kim, Cloninger, C. Robert, Cohen, David, Cohen, Nadine, Coleman, Jonathan R.I., Collier, David A., Cormican, Paul, Coryell, William, Craddock, Nicholas, Craig, David W., Crespo-Facorro, Benedicto, Crowley, James J., Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M., Dale, Anders M., Daly, Mark J., Dannlowski, Udo, Darvasi, Ariel, Davidson, Michael, Davis, Kenneth L., de Leeuw, Christiaan A., Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E., Deloukas, Panos, Demontis, Ditte, DePaulo, J. Raymond, di Forti, Marta, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Dobbyn, Amanda L., Donnelly, Peter, Donohoe, Gary, Drapeau, Elodie, Dronov, Serge, Duan, Jubao, Dudbridge, Frank, Duncanson, Audrey, Edenberg, Howard, Edkins, Sarah, Ehrenreich, Hannelore, Eichhammer, Peter, Elvsashagen, Torbjorn, Eriksson, Johan, Escott-Price, Valentina, Esko, Tonu, Essioux, Laurent, Etain, Bruno, Fan, Chun Chieh, Farh, Kai-How, Farrell, Martilias S., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Franke, Lude, Fraser, Christine, Freedman, Robert, Freeman, Colin, Freimer, Nelson B., Friedman, Joseph I., Fromer, Menachem, Frye, Mark A., Fullerton, Janice M., Gade, Katrin, Garnham, Julie, Gaspar, Helena A., Gejman, Pablo V., Genovese, Giulio, Georgieva, Lyudmila, Giambartolomei, Claudia, Giannoulatou, Eleni, Giegling, Ina, Gill, Michael, Gillman, Matthew, Pedersen, Marianne Giortz, Giusti-Rodriguez, Paola, Godard, Stephanie, Goes, Fernando, Goldstein, Jacqueline I., Gopal, Srihari, Gordon, Scott D., Gordon-Smith, Katherine, Gratten, Jacob, Gray, Emma, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grigoroiu-Serbanescu, Maria, Grove, Jakob, Guan, Weihua, Gurling, Hugh, Parra, Jose Guzman, Gwilliam, Rhian, de Haan, Lieuwe, Hall, Jeremy, Hall, Mei-Hua, Hammer, Christian, Hammond, Naomi, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Hauser, Joanna, Hautzinger, Martin, Heilbronner, Urs, Hellenthal, Garrett, Henskens, Frans A., Herms, Stefan, Hipolito, Maria, Hirschhorn, Joel N., Hoffmann, Per, Hollegaard, Mads V., Hougaard, David M., Huang, Hailiang, Huckins, Laura, Hultman, Christina M., Hunt, Sarah E., Ikeda, Masashi, Iwata, Nakao, Iyegbe, Conrad, Jablensky, Assen V., Jamain, Stephane, Jankowski, Janusz, Jayakumar, Alagurevathi, Joa, Inge, Jones, Ian, Jones, Lisa A., Jonsson, Erik G., Julia, Antonio, Jureus, Anders, Kahler, Anna K., Kahn, Rene S., Kalaydjieva, Luba, Kandaswamy, Radhika, Karachanak-Yankova, Sena, Karjalainen, Juha, Karlsson, Robert, Kavanagh, David, Keller, Matthew C., Kelly, Brian J., Kelsoe, John, Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Kirov, George, Kittel-Schneider, Sarah, Klovins, Janis, Knight, Jo, Knott, Sarah V., Knowles, James A., Kogevinas, Manolis, Konte, Bettina, Kravariti, Eugenia, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kupka, Ralph, Kuzelova-Ptackova, Hana, Landen, Mikael, Langford, Cordelia, Laurent, Claudine, Lawrence, Jacob, Lawrie, Stephen, Lawson, William B., Leber, Markus, Leboyer, Marion, Lee, Phil H., Keong, Jimmy Lee Chee, Legge, Sophie E., Lencz, Todd, Lerer, Bernard, Levinson, Douglas F., Levy, Shawn E., Lewis, Cathryn M., Li, Jun Z., Li, Miaoxin, Li, Qingqin S., Li, Tao, Liang, Kung-Yee, Liddle, Jennifer, Lieberman, Jeffrey, Limborska, Svetlana, Lin, Kuang, Linszen, Don H., Lissowska, Jolanta, Liu, Chunyu, Liu, Jianjun, Lonnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Lucae, Susanne, Macek, Milan, Jr., MacIntyre, Donald J., Magnusson, Patrik K.E., Maher, Brion S., Mahon, Pamela B., Maier, Wolfgang, Malhotra, Anil K., Mallet, Jacques, Malt, Ulrik F., Markus, Hugh S., Marsal, Sara, Martin, Nicholas G., Mata, Ignacio, Mathew, Christopher G., Mattheisen, Manuel, Mattingsdal, Morten, Mayoral, Fermin, McCann, Owen T., McCarley, Robert W., McCarroll, Steven A., McCarthy, Mark I., McDonald, Colm, McElroy, Susan L., McGuffin, Peter, McInnis, Melvin G., McIntosh, Andrew M., McKay, James D., McMahon, Francis J., Medeiros, Helena, Medland, Sarah E., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Meng, Fan, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mitchell, Philip B., Mokrab, Younes, Montgomery, Grant W., Moran, Jennifer L., Morken, Gunnar, Morris, Derek W., Mors, Ole, Mortensen, Preben B., Mowry, Bryan J., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Murphy, Kieran C., Murray, Robin M., Myers, Richard M., Myin-Germeys, Inez, Neale, Benjamin M., Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nievergelt, Caroline M., Nikitina-Zake, Liene, Nimgaonkar, Vishwajit, Nisenbaum, Laura, Nordentoft, Merete, Nordin, Annelie, Nöthen, Markus M., Nwulia, Evaristus A., O’Callaghan, Eadbhard, O’Donovan, Claire, O’Dushlaine, Colm, O’Neill, F. Anthony, Oedegaard, Ketil J., Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Oruc, Lilijana, Van Os, Jim, Owen, Michael J., Paciga, Sara A., Palmer, Colin N.A., Palotie, Aarno, Pantelis, Christos, Papadimitriou, George N., Parkhomenko, Elena, Pato, Carlos, Pato, Michele T., Paunio, Tiina, Pearson, Richard, Perkins, Diana O., Perlis, Roy H., Perry, Amy, Pers, Tune H., Petryshen, Tracey L., Pfennig, Andrea, Picchioni, Marco, Pietilainen, Olli, Pimm, Jonathan, Pirinen, Matti, Plomin, Robert, Pocklington, Andrew J., Posthuma, Danielle, Potash, James B., Potter, Simon C., Powell, John, Price, Alkes, Pulver, Ann E., Purcell, Shaun M., Quested, Digby, Ramos-Quiroga, Josep Antoni, Rasmussen, Henrik B., Rautanen, Anna, Ravindrarajah, Radhi, Regeer, Eline J., Reichenberg, Abraham, Reif, Andreas, Reimers, Mark A., Ribases, Marta, Rice, John P., Richards, Alexander L., Ricketts, Michelle, Riley, Brien P., Rivas, Fabio, Rivera, Margarita, Roffman, Joshua L., Rouleau, Guy A., Roussos, Panos, Rujescu, Dan, Salomaa, Veikko, Sanchez-Mora, Cristina, Sanders, Alan R., Sawcer, Stephen J., Schall, Ulrich, Schatzberg, Alan F., Scheftner, William A., Schofield, Peter R., Schork, Nicholas J., Schwab, Sibylle G., Scolnick, Edward M., Scott, Laura J., Scott, Rodney J., Seidman, Larry J., Serretti, Alessandro, Sham, Pak C., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shi, Jianxin, Shilling, Paul D., Sigurdsson, Engilbert, Silverman, Jeremy M., Sim, Kang, Slaney, Claire, Slominsky, Petr, Smeland, Olav B., Smoller, Jordan W., So, Hon-Cheong, Sobell, Janet L., Soderman, Erik, Hansen, Christine Soholm, Spencer, Chris C.A., Spijker, Anne T., St Clair, David, Stefansson, Hreinn, Stefansson, Kari, Steinberg, Stacy, Stogmann, Elisabeth, Stordal, Eystein, Strange, Amy, Straub, Richard E., Strauss, John S., Streit, Fabian, Strengman, Eric, Strohmaier, Jana, Stroup, T. Scott, Su, Zhan, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Szelinger, Szabolcs, Tashakkori-Ghanbaria, Avazeh, Thirumalai, Srinivas, Thompson, Robert C., Thorgeirsson, Thorgeir E., Toncheva, Draga, Tooney, Paul A., Tosato, Sarah, Toulopoulou, Timothea, Trembath, Richard C., Treutlein, Jens, Turecki, Gustavo, Vaaler, Arne E., Vedder, Helmut, Vieta, Eduard, Vincent, John, Visscher, Peter M., Viswanathan, Ananth C., Vukcevic, Damjan, Waddington, John, Waller, Matthew, Walsh, Dermot, Walshe, Muriel, Walters, James T.R., Wang, Dai, Wang, Qiang, Wang, Weiqing, Wang, Yunpeng, Watson, Stanley J., Webb, Bradley T., Weickert, Thomas W., Weinberger, Daniel R., Weisbrod, Matthias, Weiser, Mark, Werge, Thomas, Weston, Paul, Whittaker, Pamela, Widaa, Sara, Wiersma, Durk, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H.M., Wood, Nicholas W., Wormley, Brandon K., Wu, Jing Qin, Xi, Simon, Xu, Wei, Young, Allan H., Zai, Clement C., Zandi, Peter, Zhang, Peng, Zheng, Xuebin, Zimprich, Fritz, Zollner, Sebastian, Corvin, Aiden, Fanous, Ayman H., Cichon, Sven, Rietschel, Marcella, Gershon, Elliot S., Schulze, Thomas G., Cuellar-Barboza, Alfredo B., Forstner, Andreas J., Holmans, Peter A., Nurnberger, John I., Andreassen, Ole A., Lee, S. Hong, O’Donovan, Michael C., Sullivan, Patrick F., Ophoff, Roel A., Wray, Naomi R., Sklar, Pamela, and Kendler, Kenneth S.

Published
2018
Full Text
View/download PDF

14. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author

Watson, Hunna J., Yilmaz, Zeynep, Thornton, Laura M., Hübel, Christopher, Coleman, Jonathan R. I., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Medland, Sarah E., Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Anorexia Nervosa Genetics Initiative, Hanscombe, Ken B., Purves, Kirstin L., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Adan, Roger A. H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Baker, Jessica H., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Perica, Vesna Boraska, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S. P., de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E., Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M., Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Forzan, Monica, Franklin, Christopher S., Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M., Hudson, James I., Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J. H., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J., Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Munn-Chernoff, Melissa A., Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O’Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Schork, Nicholas J., Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita C. T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Stuber, Garret D., Gordon, Scott, Grove, Jakob, Henders, Anjali K., Juréus, Anders, Kirk, Katherine M., Larsen, Janne T., Parker, Richard, Petersen, Liselotte, Jordan, Jennifer, Kennedy, Martin, Montgomery, Grant W., Wade, Tracey D., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Sullivan, Patrick F., Breen, Gerome, and Bulik, Cynthia M.

Published
2019
Full Text
View/download PDF

15. Long-term subjective memory after electroconvulsive therapy

Author

Robert Sigström, Axel Nordenskjöld, Anders Juréus, Caitlin Clements, Erik Joas, Erik Pålsson, and Mikael Landén

Subjects
Electroconvulsive therapy, memory, adverse effects, amnesia, cognition, Psychiatry, RC435-571
Abstract

BackgroundThere have been reports of long-term subjective memory worsening after electroconvulsive therapy (ECT).AimsTo study the prevalence and risk factors of long-term subjective memory worsening among patients receiving ECT in routine clinical practice.MethodPatients (n = 535, of whom 277 were included in the final analysis) were recruited from eight Swedish hospitals. Participants' subjective memory impairment was assessed before ECT and a median of 73 days after ECT using the memory item from the Comprehensive Psychopathological Rating Scale. Participants also rated their pre-ECT expectations and post-ECT evaluations of the effect of ECT on memory on a 7-point scale. We used ordinal regression to identify variables associated with subjective memory worsening and negative evaluations of the effect of ECT on memory.ResultsComparisons of pre- and post-ECT assessments showed that subjective memory worsened in 16.2% of participants, remained unchanged in 52.3% and improved in 31.4%. By contrast, when asked to evaluate the effect of ECT on memory after treatment 54.6% reported a negative effect. Subjective memory worsening was associated with negative expectations before ECT, younger age and shorter duration of follow-up.ConclusionsAlthough subjective memory improved more often than it worsened when assessed before and after ECT, a majority of patients reported that ECT had negative effects on their memory when retrospectively asked how ECT had affected it. This might suggest that some patients attribute pre-existing subjective memory impairment to ECT. Clinicians should be aware that negative expectations are associated with subjective worsening of memory after ECT.

Published
2020
Full Text
View/download PDF

17. Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Author

Jia, Xiaoming, Goes, Fernando S., Locke, Adam E., Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U., Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M., Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z., Levy, Shawn E., Monson, Eric T., Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M., Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A., Richard McCombie, W., McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M., O’Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B., Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F., Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A., Zandi, Peter P., and Scott, Laura J.

Published
2021
Full Text
View/download PDF

27. First and Second Generation γ-Secretase Modulators (GSMs) Modulate Amyloid-β (Aβ) Peptide Production through Different Mechanisms

Author

Borgegard, Tomas, Juréus, Anders, Olsson, Fredrik, Rosqvist, Susanne, Sabirsh, Alan, Rotticci, Didier, Paulsen, Kim, Klintenberg, Rebecka, Yan, Hongmei, Waldman, Magnus, Stromberg, Kia, Nord, Johan, Johansson, Jonas, Regner, Anna, Parpal, Santiago, Malinowsky, David, Radesater, Ann-Cathrin, Li, Tingsheng, Singh, Rajeshwar, Eriksson, Hakan, and Lundkvist, Johan

Published
2012
Full Text
View/download PDF

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

Author

Andlauer, Till F M, Guzman-Parra, Jose, Orozco Diaz, Guillermo, Freimer, Nelson B, Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, de Diego-Otero, Yolanda, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Parra, José Guzman, Hamshere, Marian L, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Moreno-Küstner, Berta, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S, Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L, Auburger, Georg, Kittel-Schneider, Sarah, Knowles, James A, Kogevinas, Manolis, Koller, Anna C, Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B, Leber, Markus, Lee, Phil H, Degenhardt, Franziska, Levy, Shawn E, Li, Jun Z, Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J, Mahon, Pamela B, Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, Heilmann-Heimbach, Stefanie, McGuffin, Peter, McInnis, Melvin G, McKay, James D, Medeiros, Helena, Medland, Sarah E, Meng, Fan, Milani, Lili, Montgomery, Grant W, Morris, Derek W, Mühleisen, Thomas W, Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M, Adolfsson, Annelie Nordin, Nwulia, Evaristus A, O'Donovan, Claire, Loohuis, Loes M Olde, Ori, Anil P S, Oruc, Lilijana, Ösby, Urban, Perlis, Roy H, Perry, Amy, Pfennig, Andrea, Potash, James B, Purcell, Shaun M, Regeer, Eline J, Reif, Andreas, Reinbold, Céline S, Rice, John P, Richards, Alexander L, Frank, Josef, Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M, Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F, Scheftner, William A, Schork, Nicholas J, Weickert, Cynthia Shannon, Foo, Jerome C, Shehktman, Tatyana, Shilling, Paul D, Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B, Sobell, Janet L, Hansen, Christine Søholm, Spijker, Anne T, Clair, David St, Steffens, Michael, Streit, Fabian, Treutlein, Jens, Strauss, John S, Strohmaier, Jana, Szelinger, Szabolcs, Thompson, Robert C, EThorgeirsson, Thorgeir, Vedde, Helmut, Wang, Weiqing, Watson, Stanley J, Witt, Stephanie H, Weickert, Thomas W, Xi, Simon, Xu, Wei, Young, Allan H, Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Cichon, Sven, Alda, Martin, Backlund, Lena, Baune, Bernhard T, Bellivier, Frank, Berrettini, Wade H, Biernacka, Joanna M, Blackwood, Douglas H R, Boehnke, Michael, Børglum, Anders D, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J, Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M, Gershon, Elliot S, Gill, Michael, Goes, Fernando, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Hougaard, David M, Hultman, Christina M, Jones, Ian, Jones, Lisa A, Kahn, René S, Kirov, George, Landén, Mikael, Leboyer, Marion, Mayoral, Fermín, Lewis, Cathryn M, Li, Qingqin S, Lissowska, Jolanta, Martin, Nicholas G, Mayoral, Fermin, McElroy, Susan L, McIntosh, Andrew M, McMahon, Francis J, Melle, Ingrid, Metspalu, Andres, Müller-Myhsok, Bertram, Mitchell, Philip B, Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Myers, Richard M, Neale, Benjamin M, Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M, Forstner, Andreas J, O'Donovan, Michael C, Oedegaard, Ketil J, Owen, Michael J, Paciga, Sara A, Pato, Carlos, Pato, Michele T, Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A, Schalling, Martin, Schofield, Peter R, Schulze, Thomas G, Serretti, Alessandro, Smoller, Jordan W, Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Sullivan, Patrick F, Turecki, Gustavo, Vaaler, Arne E, Vieta, Eduard, Vincent, John B, Werge, Thomas, Nurnberger, John I, Wray, Naomi R, Florio, Arianna Di, Edenberg, Howard J, Stahl, Eli A, Ophoff, Roel A, Scott, Laura J, Andreassen, Ole A, Kelsoe, John, Sklar, Pamela, Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M, Breen, Gerome, Abdellaoui, Abdel, Adams, Mark J, Agerbo, Esben, Air, Tracy M, Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T F, Bigdeli, Tim B, Binder, Elisabeth B, Bryois, Julien, Buttenschøn, Henriette N, Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R I, Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, McQuillin, Andrew, Craddock, Nick, Crawford, Gregory E, Davies, Gail, Deary, Ian J, Derks, Eske M, Direk, Nese, Dolan, Conor V, Dunn, Erin C, Eley, Thalia C, Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K, Gaspar, Héléna A, Goes, Fernando S, Trubetskoy, Vassily, Hall, Lynsey S, Hansen, Thomas F, Hickie, Ian B, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Howard, David M, Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Kohane, Isaac S, Kraft, Julia, Wang, Yunpeng, Kretzschmar, Warren W, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A, MacKinnon, Dean F, Maier, Robert M, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, Mehta, Divya, Middeldorp, Christel M, Mihailov, Evelin, Milaneschi, Yuri, Mondimore, Francis M, Mostafavi, Sara, Nauck, Matthias, Ng, Bernard, Nivard, Michel G, Nyholt, Dale R, O'Reilly, Paul F, Oskarsson, Hogni, Painter, Jodie N, González, Maria José, de Leeuw, Christiaan A, Pedersen, Carsten Bøcker, Peterson, Roseann E, Pettersson, Erik, Peyrot, Wouter J, Pistis, Giorgio, Quiroz, Jorge A, Qvist, Per, Steinberg, Stacy, Riley, Brien P, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C, Shen, Ling, Shi, Jianxin, Shyn, Stanley I, Sinnamon, Grant C B, Pavlides, Jennifer M Whitehead, Smit, Johannes H, Smith, Daniel J, Tansey, Katherine E, Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A, Thorgeirsson, Thorgeir E, Traylor, Matthew, Uitterlinden, André G, Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M, Viktorin, Alexander, Pers, Tune H, Visscher, Peter M, Webb, Bradley T, Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Wu, Yang, Xi, Hualin S, Yang, Jian, Holmans, Peter A, Zhang, Futao, Arolt, Volker, Berger, Klaus, Boomsma, Dorret I, de Geus, E. J. C., DePaulo, J Raymond, Domenici, Enrico, Abbott, Liam, Domschke, Katharina, Grabe, Hans J, Hamilton, Steven P, Hayward, Caroline, Heath, Andrew C, Kendler, Kenneth S, Kloiber, Stefan, Lewis, Glyn, Madden, Pamela A F, Magnusson, Patrik K, Akil, Huda, Pedersen, Nancy L, Penninx, Brenda W J H, Porteous, David J, Preisig, Martin, Albani, Diego, Schaefer, Catherine, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M, Gil Flores, Susana, Alliey-Rodriguez, Ney, Levinson, Douglas F, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Cabaleiro Fabeiro, Francisco J, Belliveau, Richard, Bergen, Sarah E, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Del Río Noriega, Francisco, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Coryell, William, Perez, Fermin Perez, Craig, David W, Cruceanu, Cristiana, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Del-Favero, Jurgen, Djurovic, Srdjan, Dobbyn, Amanda L, Haro González, Jesus, Dumont, Ashley, Elvsåshagen, Torbjørn, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Fraser, Christine, Psychiatry, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, Epidemiology and Data Science, APH - Digital Health, Andlauer T.F.M., Guzman-Parra J., Streit F., Strohmaier J., Gonzalez M.J., Gil Flores S., Cabaleiro Fabeiro F.J., del Rio Noriega F., Perez F.P., Haro Gonzalez J., Orozco Diaz G., de Diego-Otero Y., Moreno-Kustner B., Auburger G., Degenhardt F., Heilmann-Heimbach S., Herms S., Hoffmann P., Frank J., Foo J.C., Treutlein J., Witt S.H., Cichon S., Kogevinas M., Stahl E.A., Breen G., Forstner A.J., McQuillin A., Ripke S., Trubetskoy V., Mattheisen M., Wang Y., Coleman J.R.I., Gaspar H.A., de Leeuw C.A., Steinberg S., Pavlides J.M.W., Trzaskowski M., Pers T.H., Holmans P.A., Abbott L., Agerbo E., Akil H., Albani D., Alliey-Rodriguez N., Als T.D., Anjorin A., Antilla V., Awasthi S., Badner J.A., Baekvad-Hansen M., Barchas J.D., Bass N., Bauer M., Belliveau R., Bergen S.E., Pedersen C.B., Boen E., Boks M., Boocock J., Budde M., Bunney W., Burmeister M., Bybjerg-Grauholm J., Byerley W., Casas M., Cerrato F., Cervantes P., Chambert K., Charney A.W., Chen D., Churchhouse C., Clarke T.-K., Coryell W., Craig D.W., Cruceanu C., Czerski P.M., Dale A.M., de Jong S., Del-Favero J., DePaulo J.R., Djurovic S., Dobbyn A.L., Dumont A., Elvsashagen T., Escott-Price V., Fan C.C., Fischer S.B., Flickinger M., Foroud T.M., Forty L., Fraser C., Freimer N.B., Frisen L., Gade K., Gage D., Garnham J., Giambartolomei C., Pedersen M.G., Goldstein J., Gordon S.D., Gordon-Smith K., Green E.K., Green M.J., Greenwood T.A., Grove J., Guan W., Parra J.G., Hamshere M.L., Hautzinger M., Heilbronner U., Hipolito M., Holland D., Huckins L., Jamain S., Johnson J.S., Jureus A., Kandaswamy R., Karlsson R., Kennedy J.L., Kittel-Schneider S., Knowles J.A., Koller A.C., Kupka R., Lavebratt C., Lawrence J., Lawson W.B., Leber M., Lee P.H., Levy S.E., Li J.Z., Liu C., Lucae S., Maaser A., MacIntyre D.J., Mahon P.B., Maier W., Martinsson L., McCarroll S., McGuffin P., McInnis M.G., McKay J.D., Medeiros H., Medland S.E., Meng F., Milani L., Montgomery G.W., Morris D.W., Muhleisen T.W., Mullins N., Nguyen H., Nievergelt C.M., Adolfsson A.N., Nwulia E.A., O'Donovan C., Loohuis L.M.O., Ori A.P.S., Oruc L., Osby U., Perlis R.H., Perry A., Pfennig A., Potash J.B., Purcell S.M., Regeer E.J., Reif A., Reinbold C.S., Rice J.P., Richards A.L., Rivas F., Rivera M., Roussos P., Ruderfer D.M., Ryu E., Sanchez-Mora C., Schatzberg A.F., Scheftner W.A., Schork N.J., Weickert C.S., Shehktman T., Shilling P.D., Sigurdsson E., Slaney C., Smeland O.B., Sobell J.L., Hansen C.S., Spijker A.T., Clair D.S., Steffens M., Strauss J.S., Szelinger S., Thompson R.C., EThorgeirsson T., Vedde H., Wang W., Watson S.J., Weickert T.W., Xi S., Xu W., Young A.H., Zandi P., Zhang P., Zollner S., Adolfsson R., Agartz I., Alda M., Backlund L., Baune B.T., Bellivier F., Berrettini W.H., Biernacka J.M., Blackwood D.H.R., Boehnke M., Borglum A.D., Corvin A., Craddock N., Daly M.J., Dannlowski U., Esko T., Etain B., Frye M., Fullerton J.M., Gershon E.S., Gill M., Goes F., Grigoroiu-Serbanescu M., Hauser J., Hougaard D.M., Hultman C.M., Jones I., Jones L.A., Kahn R.S., Kirov G., Landen M., Leboyer M., Lewis C.M., Li Q.S., Lissowska J., Martin N.G., Mayoral F., McElroy S.L., McIntosh A.M., McMahon F.J., Melle I., Metspalu A., Mitchell P.B., Morken G., Mors O., Mortensen P.B., Muller-Myhsok B., Myers R.M., Neale B.M., Nimgaonkar V., Nordentoft M., Nothen M.M., O'Donovan M.C., Oedegaard K.J., Owen M.J., Paciga S.A., Pato C., Pato M.T., Posthuma D., Ramos-Quiroga J.A., Ribases M., Rietschel M., Rouleau G.A., Schalling M., Schofield P.R., Schulze T.G., Serretti A., Smoller J.W., Stefansson H., Stefansson K., Stordal E., Sullivan P.F., Turecki G., Vaaler A.E., Vieta E., Vincent J.B., Werge T., Nurnberger J.I., Wray N.R., Florio A.D., Edenberg H.J., Ophoff R.A., Scott L.J., Andreassen O.A., Kelsoe J., Sklar P., Byrne E.M., Abdellaoui A., Adams M.J., Air T.M., Bacanu S.-A., Beekman A.T.F., Bigdeli T.B., Binder E.B., Bryois J., Buttenschon H.N., Cai N., Castelao E., Christensen J.H., Colodro-Conde L., Couvy-Duchesne B., Crawford G.E., Davies G., Deary I.J., Derks E.M., Direk N., Dolan C.V., Dunn E.C., Eley T.C., Kiadeh F.F.H., Finucane H.K., Goes F.S., Hall L.S., Hansen T.F., Hickie I.B., Homuth G., Horn C., Hottenga J.-J., Howard D.M., Ising M., Jansen R., Jorgenson E., Kohane I.S., Hill, Kraft J., Kretzschmar W.W., Kutalik Z., Li Y., Lind P.A., MacKinnon D.F., Maier R.M., Marchini J., Mbarek H., McGrath P., Mehta D., Middeldorp C.M., Mihailov E., Milaneschi Y., Mondimore F.M., Mostafavi S., Nauck M., Ng B., Nivard M.G., Nyholt D.R., O'Reilly P.F., Oskarsson H., Painter J.N., Peterson R.E., Pettersson E., Peyrot W.J., Pistis G., Quiroz J.A., Qvist P., Riley B.P., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Shi J., Shyn S.I., Sinnamon G.C.B., Smit J.H., Smith D.J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Uitterlinden A.G., Umbricht D., Van der Auwera S., van Hemert A.M., Viktorin A., Visscher P.M., Webb B.T., Weinsheimer S.M., Wellmann J., Willemsen G., Wu Y., Xi H.S., Yang J., Zhang F., Arolt V., Berger K., Boomsma D.I., de Geus E.J.C., Domenici E., Domschke K., Grabe H.J., Hamilton S.P., Hayward C., Heath A.C., Kendler K.S., Kloiber S., Lewis G., Madden P.A.F., Magnusson P.K., Pedersen N.L., Penninx B.W.J.H., Porteous D.J., Preisig M., Schaefer C., Tiemeier H., Uher R., Volzke H., Weissman M.M., Levinson D.F., Child and Adolescent Psychiatry / Psychology, Epidemiology, Internal Medicine, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, APH - Methodology, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Complex Trait Genetics, and Adult Psychiatry

Subjects
Netherlands Twin Register (NTR), Genetic variants, Bipolar Disorder, Specific risk, Disease, 0302 clinical medicine, Multiplex, Genetic risk, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Depression (differential diagnoses), 0303 health sciences, Depression, ddc, 3. Good health, Geðraskanir, Psychiatry and Mental health, Schizophrenia, Cohort, Major depressive disorder, Case-Control Studie, Human, medicine.medical_specialty, Bipolar disorder, Article, Cellular and Molecular Neuroscience, 03 medical and health sciences, Geðklofi, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Psychiatry, Þunglyndi, Molecular Biology, 030304 developmental biology, Depressive Disorder, Major, Geðhvarfasýki, business.industry, Psychiatric disorder, medicine.disease, Genarannsóknir, Case-Control Studies, Multiple comparisons problem, business, 030217 neurology & neurosurgery
Abstract

Publisher's version, 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., The study was supported by the German Federal Ministry of Education and Research (BMBF), through the Integrated Network IntegraMent, under the auspices of the e:Med programme (grants 01ZX1314A to MMN and SC; 01ZX1314G to MR; 01ZX1614J to BMM) through grants 01EE1406C to MR and 01EE1409C to MR and SHW, and through ERA-NET NEURON, “SynSchiz—Linking synaptic dysfunction to disease mechanisms in schizophrenia—a multilevel investigation” (01EW1810 to MR) and BMBF grants 01EE1409C and 01EE1406C to MR and SHW; by the German Research Foundation (DFG grants FOR2107; RI908/11-2 to MR; NO246/10-2 to MMN; MU1315/8-2 to BMM; WI 3439/3-2 to SHW), by the Andalusian regional Health and Innovation Government (grants PI-0060-2017, RC-0006-2015 the Nicolas Monarde Programme for YDO and CTS-546) and by the Swiss National Science Foundation (SNSF grant 156791 to SC). MMN is a member of the DFG-funded cluster of excellence ImmunoSensation. The PGC has received major funding from the US National Institute of Mental Health and the US National Institute of Drug Abuse (U01 MH109528 and U01 MH1095320). We thank the research participants and employees of 23andMe, Inc. for their contribution to the MDD meta-analysis published in [14]. We thank the International Genomics of Alzheimer's Project (IGAP) for providing summary results data for the present analyses. See the Supplementary Data for extended Acknowledgements.

Published
2021
Full Text
View/download PDF

33. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author

Stephan Zipfel, Hidetoshi Inoko, K. Fischer, Laramie E. Duncan, Jochen Seitz, Lars Klareskog, Ina Giegling, Grant W. Montgomery, Manuel Föcker, Colin A. Johnson, Agnieszka Słopień, Dong Li, M. C. T. Slof-Op 't Landt, Thomas Werge, Janiece E. DeSocio, Stefan Ehrlich, Joseph M. Boden, Patrick F. Sullivan, M. La Via, Bochao Danae Lin, Andreas Karwautz, Ilka Boehm, Lenka Foretová, Stephen W. Scherer, Anders Juréus, Jolanta Lissowska, Janne Tidselbak Larsen, Antonio Julià, A. Metspalu, Roger A.H. Adan, George Dedoussis, Stefan Herms, Franziska Ritschel, Martin A. Kennedy, Vesna Boraska Perica, S.D. Gordon, Johanna Giuranna, Janet Treasure, Youl-Ri Kim, Joanna Hauser, Manfred M. Fichter, P.E. Slagboom, Wade H. Berrettini, Kirstin L. Purves, Fernando Fernández-Aranda, Eleftheria Zeggini, Nadia Micali, Anne Farmer, Beata Swiatkowska, Tracey D. Wade, Claudette Boni, Fragiskos Gonidakis, Ioanna Ntalla, Johannes Pantel, Raquel Rabionet, Pierre J. Magistretti, Johannes Hebebrand, Mario Maj, Sietske G. Helder, Roland Burghardt, Sarah E. Medland, Maurizio Clementi, John F. Pearson, Gerd Wagner, V. Janout, Susana Jiménez-Murcia, Mikael Landén, Samuli Ripatti, Sandro Sorbi, Martien J H Kas, Leonid Padyukov, Zeynep Yilmaz, Kelly L. Klump, Paul Lichtenstein, Shuyang Yao, Dan Rujescu, James J. Crowley, Valdo Ricca, Palmiero Monteleone, Steve Crawford, Sébastien Guillaume, Liselotte Petersen, Yiran Guo, Stephan Ripke, Beate Herpertz-Dahlmann, Marie Navratilova, S. Gallinger, Anjali K. Henders, Cynthia M. Bulik, Wolfgang Herzog, Alfonso Tortorella, Christian Dina, Garret D. Stuber, A. A. van Elburg, Manuel Mattheisen, Harry Brandt, Hunna J. Watson, Alessandro Rotondo, Roel A. Ophoff, Artemis Tsitsika, Nicholas G. Martin, Sara Marsal, Konstantinos Tziouvas, Ken B. Hanscombe, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Anu Raevuori, Lars Alfredsson, E. F. van Furth, Hartmut Imgart, Esther Walton, Julie K. O'Toole, Katharina Buehren, Unna N. Danner, Hana Papezova, Katherine M. Kirk, Deborah Kaminská, Lisa R. Lilenfeld, Aarno Palotie, Paola Giusti-Rodríguez, Jennifer Jordan, Gun Peggy Knudsen, L. Slachtova, Ole A. Andreassen, Monica Gratacos Mayora, Elisabeth Widen, Benedetta Nacmias, Nicholas J. Schork, Monika Dmitrzak-Weglarz, Jurjen J. Luykx, André Scherag, Christopher Hübel, Laura M. Thornton, Marion Roberts, Angela Favaro, Catherine M. Olsen, Jaakko Kaprio, S Le Hellard, Federica Tozzi, Monica Forzan, Claes Norring, Leila Karhunen, Karin Egberts, Dalila Pinto, Geòrgia Escaramís, Nicolas Ramoz, Robert D. Levitan, Laura M. Huckins, Ulrike Schmidt, Gerome Breen, Kirsty Kiezebrink, Andreas J. Forstner, Scott J. Crow, Ingrid Meulenbelt, Dimitris Dikeos, Sven Cichon, Daniela Degortes, L. J. Horwood, Tetsuya Ando, Jonathan R. I. Coleman, Stephanie Zerwas, Katherine A. Halmi, Helena Gaspar, Andrew W. Bergen, Elena Tenconi, Katrin Männik, Christopher S. Franklin, Anna Keski-Rahkonen, Sara McDevitt, Marta Tyszkiewicz-Nwafor, Jakob Grove, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Melissa A. Munn-Chernoff, Hakon Hakonarson, Roger D. Cone, Allan S. Kaplan, Paolo Santonastaso, James I. Hudson, M. de Zwaan, Xavier Estivill, James E. Mitchell, Danielle M. Dick, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Michael Strober, D. B. Woodside, Oliver S. P. Davis, Karen S. Mitchell, David C. Whiteman, Julien Bryois, Nancy L. Pedersen, Philippe Courtet, Virpi M. Leppä, Konstantinos Hatzikotoulas, T Esko, Matteo Cassina, Andreas Birgegård, Anke Hinney, Richard Parker, James L. Kennedy, Elisa Docampo, Ioanna Tachmazidou, Jin P. Szatkiewicz, Alexandra Schosser, Filip Rybakowski, Morten Mattingsdal, and Gursharan Kalsi

Subjects
medicine.medical_specialty, Anorexia nervosa (differential diagnoses), business.industry, medicine, Genome-wide association study, Psychiatry, business
Published
2020
Full Text
View/download PDF

34. Genome-wide association study of patients with a severe major depressive episode treated with electroconvulsive therapy

Author

Caitlin C, Clements, Robert, Karlsson, Yi, Lu, Anders, Juréus, Christian, Rück, Evelyn, Andersson, Julia, Boberg, Nancy L, Pedersen, Cynthia M, Bulik, Axel, Nordenskjöld, Erik, Pålsson, Patrick F, Sullivan, and Mikael, Landén

Subjects
Depressive Disorder, Major, Bipolar Disorder, mental disorders, Humans, Genetic Predisposition to Disease, Electroconvulsive Therapy, behavioral disciplines and activities, Polymorphism, Single Nucleotide, Article, Genome-Wide Association Study
Abstract

Although large genome-wide association studies (GWAS) of major depressive disorder (MDD) have identified many significant loci, the SNP-based heritability remains notably low, which might be due to etiological heterogeneity in existing samples. Here, we test the utility of targeting the severe end of the MDD spectrum through genome-wide SNP genotyping of 2725 cases who received electroconvulsive therapy (ECT) for a major depressive episode (MDE) and 4035 controls. A subset of cases (n = 1796) met a narrow case definition (MDE occurring in the context of MDD). Standard GWAS quality control procedures and imputation were conducted. SNP heritability and genetic correlations with other traits were estimated using linkage disequilibrium score regression. Results were compared with MDD cases of mild-moderate severity receiving internet-based cognitive behavioral therapy (iCBT) and summary results from the Psychiatric Genomics Consortium (PGC). The SNP-based heritability was estimated at 29–34% (SE: 6%) for the narrow case definition, considerably higher than the 6.5–8.0% estimate in the most recent PGC MDD study. Our severe MDE cases had smaller genetic correlations with neurodevelopmental disorders and neuroticism than PGC MDD cases but higher genetic risk scores for bipolar disorder than iCBT MDD cases. One genome-wide significant locus was identified (rs114583506, P = 5e−8) in an intron of HLA-B in the major histocompatibility locus on chr6. These results indicate that individuals receiving ECT for an MDE have higher burden of common variant risk loci than individuals with mild-moderate MDD. Furthermore, severe MDE shows stronger relations with other severe adult-onset psychiatric disorders but weaker relations with personality and stress-related traits than mild-moderate MDD. These findings suggest a different genetic architecture at the severest end of the spectrum, and support further study of the severest MDD cases as an extreme phenotype approach to understand the etiology of MDD.

Published
2020

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

Author

Andlauer, Till F.M., Guzman-Parra, Jose, Streit, Fabian, Strohmaier, Jana, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez, Fermin Perez, Haro González, Jesus, Orozco Diaz, Guillermo, de Diego-Otero, Yolanda, Moreno-Küstner, Berta, Auburger, Georg, Degenhardt, Franziska, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hoffmann, Per, Frank, Josef, Foo, Jerome C., Treutlein, Jens, Witt, Stephanie H., Cichon, Sven, Kogevinas, Manolis, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M.Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, José Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Hipolito, Maria, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Mühleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O’Donovan, Claire, Loohuis, Loes M.Olde, Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Richards, Alexander L., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Spijker, Anne T., Clair, David St, Steffens, Michael, Strauss, John S., Szelinger, Szabolcs, Thompson, Robert C., EThorgeirsson, Thorgeir, Vedde, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Børglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gill, Michael, Martin, Nicholas G., Schofield, Peter R., Sullivan, Patrick F., Adams, Mark J., Colodro-Conde, Lucía, Derks, Eske M., Howard, David M., Lind, Penelope A., Mehta, Divya, Nyholt, Dale R., Smith, Daniel J., Visscher, Peter M., other, and, Andlauer, Till F.M., Guzman-Parra, Jose, Streit, Fabian, Strohmaier, Jana, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez, Fermin Perez, Haro González, Jesus, Orozco Diaz, Guillermo, de Diego-Otero, Yolanda, Moreno-Küstner, Berta, Auburger, Georg, Degenhardt, Franziska, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hoffmann, Per, Frank, Josef, Foo, Jerome C., Treutlein, Jens, Witt, Stephanie H., Cichon, Sven, Kogevinas, Manolis, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M.Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, José Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Hipolito, Maria, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Mühleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O’Donovan, Claire, Loohuis, Loes M.Olde, Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Richards, Alexander L., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Spijker, Anne T., Clair, David St, Steffens, Michael, Strauss, John S., Szelinger, Szabolcs, Thompson, Robert C., EThorgeirsson, Thorgeir, Vedde, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Børglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gill, Michael, Martin, Nicholas G., Schofield, Peter R., Sullivan, Patrick F., Adams, Mark J., Colodro-Conde, Lucía, Derks, Eske M., Howard, David M., Lind, Penelope A., Mehta, Divya, Nyholt, Dale R., Smith, Daniel J., Visscher, Peter M., and other, and

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
2021

36. The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls

Author

Coleman, Jonathan R.I., primary, Gaspar, Héléna A., additional, Bryois, Julien, additional, Breen, Gerome, additional, Byrne, Enda M., additional, Forstner, Andreas J., additional, Holmans, Peter A., additional, de Leeuw, Christiaan A., additional, Mattheisen, Manuel, additional, McQuillin, Andrew, additional, Whitehead Pavlides, Jennifer M., additional, Pers, Tune H., additional, Ripke, Stephan, additional, Stahl, Eli A., additional, Steinberg, Stacy, additional, Trubetskoy, Vassily, additional, Trzaskowski, Maciej, additional, Wang, Yunpeng, additional, Abbott, Liam, additional, Abdellaoui, Abdel, additional, Adams, Mark J., additional, Adolfsson, Annelie Nordin, additional, Agerbo, Esben, additional, Akil, Huda, additional, Albani, Diego, additional, Alliey-Rodriguez, Ney, additional, Als, Thomas D., additional, Andlauer, Till F.M., additional, Anjorin, Adebayo, additional, Antilla, Verneri, additional, Van der Auwera, Sandra, additional, Awasthi, Swapnil, additional, Bacanu, Silviu-Alin, additional, Badner, Judith A., additional, Bækvad-Hansen, Marie, additional, Barchas, Jack D., additional, Bass, Nicholas, additional, Bauer, Michael, additional, Beekman, Aartjan T.F., additional, Belliveau, Richard, additional, Bergen, Sarah E., additional, Bigdeli, Tim B., additional, Binder, Elisabeth B., additional, Bøen, Erlend, additional, Boks, Marco, additional, Boocock, James, additional, Budde, Monika, additional, Bunney, William, additional, Burmeister, Margit, additional, Buttenschøn, Henriette N., additional, Bybjerg-Grauholm, Jonas, additional, Byerley, William, additional, Cai, Na, additional, Casas, Miquel, additional, Castelao, Enrique, additional, Cerrato, Felecia, additional, Cervantes, Pablo, additional, Chambert, Kimberly, additional, Charney, Alexander W., additional, Chen, Danfeng, additional, Christensen, Jane Hvarregaard, additional, Churchhouse, Claire, additional, St Clair, David, additional, Clarke, Toni-Kim, additional, Colodro-Conde, Lucía, additional, Coryell, William, additional, Couvy-Duchesne, Baptiste, additional, Craig, David W., additional, Crawford, Gregory E., additional, Cruceanu, Cristiana, additional, Czerski, Piotr M., additional, Dale, Anders M., additional, Davies, Gail, additional, Deary, Ian J., additional, Degenhardt, Franziska, additional, Del-Favero, Jurgen, additional, DePaulo, J Raymond, additional, Derks, Eske M., additional, Direk, Nese, additional, Djurovic, Srdjan, additional, Dobbyn, Amanda L., additional, Dolan, Conor V., additional, Dumont, Ashley, additional, Dunn, Erin C., additional, Eley, Thalia C., additional, Elvsåshagen, Torbjørn, additional, Escott-Price, Valentina, additional, Fan, Chun Chieh, additional, Finucane, Hilary K., additional, Fischer, Sascha B., additional, Flickinger, Matthew, additional, Foo, Jerome C., additional, Foroud, Tatiana M., additional, Forty, Liz, additional, Frank, Josef, additional, Fraser, Christine, additional, Freimer, Nelson B., additional, Frisén, Louise, additional, Gade, Katrin, additional, Gage, Diane, additional, Garnham, Julie, additional, Giambartolomei, Claudia, additional, Goes, Fernando S., additional, Goldstein, Jaqueline, additional, Gordon, Scott D., additional, Gordon-Smith, Katherine, additional, Green, Elaine K., additional, Green, Melissa J., additional, Greenwood, Tiffany A., additional, Grove, Jakob, additional, Guan, Weihua, additional, Hall, Lynsey S., additional, Hamshere, Marian L., additional, Hansen, Christine Søholm, additional, Hansen, Thomas F., additional, Hautzinger, Martin, additional, Heilbronner, Urs, additional, van Hemert, Albert M., additional, Herms, Stefan, additional, Hickie, Ian B., additional, Hipolito, Maria, additional, Hoffmann, Per, additional, Holland, Dominic, additional, Homuth, Georg, additional, Horn, Carsten, additional, Hottenga, Jouke-Jan, additional, Huckins, Laura, additional, Ising, Marcus, additional, Jamain, Stéphane, additional, Jansen, Rick, additional, Johnson, Jessica S., additional, de Jong, Simone, additional, Jorgenson, Eric, additional, Juréus, Anders, additional, Kandaswamy, Radhika, additional, Karlsson, Robert, additional, Kennedy, James L., additional, Hassan Kiadeh, Farnush Farhadi, additional, Kittel-Schneider, Sarah, additional, Knowles, James A., additional, Kogevinas, Manolis, additional, Kohane, Isaac S., additional, Koller, Anna C., additional, Kraft, Julia, additional, Kretzschmar, Warren W., additional, Krogh, Jesper, additional, Kupka, Ralph, additional, Kutalik, Zoltán, additional, Lavebratt, Catharina, additional, Lawrence, Jacob, additional, Lawson, William B., additional, Leber, Markus, additional, Lee, Phil H., additional, Levy, Shawn E., additional, Li, Jun Z., additional, Li, Yihan, additional, Lind, Penelope A., additional, Liu, Chunyu, additional, Olde Loohuis, Loes M., additional, Maaser, Anna, additional, MacIntyre, Donald J., additional, MacKinnon, Dean F., additional, Mahon, Pamela B., additional, Maier, Wolfgang, additional, Maier, Robert M., additional, Marchini, Jonathan, additional, Martinsson, Lina, additional, Mbarek, Hamdi, additional, McCarroll, Steve, additional, McGrath, Patrick, additional, McGuffin, Peter, additional, McInnis, Melvin G., additional, McKay, James D., additional, Medeiros, Helena, additional, Medland, Sarah E., additional, Mehta, Divya, additional, Meng, Fan, additional, Middeldorp, Christel M., additional, Mihailov, Evelin, additional, Milaneschi, Yuri, additional, Milani, Lili, additional, Mirza, Saira Saeed, additional, Mondimore, Francis M., additional, Montgomery, Grant W., additional, Morris, Derek W., additional, Mostafavi, Sara, additional, Mühleisen, Thomas W., additional, Mullins, Niamh, additional, Nauck, Matthias, additional, Ng, Bernard, additional, Nguyen, Hoang, additional, Nievergelt, Caroline M., additional, Nivard, Michel G., additional, Nwulia, Evaristus A., additional, Nyholt, Dale R., additional, O'Donovan, Claire, additional, O'Reilly, Paul F., additional, Ori, Anil P.S., additional, Oruc, Lilijana, additional, Ösby, Urban, additional, Oskarsson, Hogni, additional, Painter, Jodie N., additional, Parra, José Guzman, additional, Pedersen, Carsten Bøcker, additional, Pedersen, Marianne Giørtz, additional, Perry, Amy, additional, Peterson, Roseann E., additional, Pettersson, Erik, additional, Peyrot, Wouter J., additional, Pfennig, Andrea, additional, Pistis, Giorgio, additional, Purcell, Shaun M., additional, Quiroz, Jorge A., additional, Qvist, Per, additional, Regeer, Eline J., additional, Reif, Andreas, additional, Reinbold, Céline S., additional, Rice, John P., additional, Riley, Brien P., additional, Rivas, Fabio, additional, Rivera, Margarita, additional, Roussos, Panos, additional, Ruderfer, Douglas M., additional, Ryu, Euijung, additional, Sánchez-Mora, Cristina, additional, Schatzberg, Alan F., additional, Scheftner, William A., additional, Schoevers, Robert, additional, Schork, Nicholas J., additional, Schulte, Eva C., additional, Shehktman, Tatyana, additional, Shen, Ling, additional, Shi, Jianxin, additional, Shilling, Paul D., additional, Shyn, Stanley I., additional, Sigurdsson, Engilbert, additional, Slaney, Claire, additional, Smeland, Olav B., additional, Smit, Johannes H., additional, Smith, Daniel J., additional, Sobell, Janet L., additional, Spijker, Anne T., additional, Steffens, Michael, additional, Strauss, John S., additional, Streit, Fabian, additional, Strohmaier, Jana, additional, Szelinger, Szabolcs, additional, Tansey, Katherine E., additional, Teismann, Henning, additional, Teumer, Alexander, additional, Thompson, Robert C., additional, Thompson, Wesley, additional, Thomson, Pippa A., additional, Thorgeirsson, Thorgeir E., additional, Traylor, Matthew, additional, Treutlein, Jens, additional, Uitterlinden, André G., additional, Umbricht, Daniel, additional, Vedder, Helmut, additional, Viktorin, Alexander, additional, Visscher, Peter M., additional, Wang, Weiqing, additional, Watson, Stanley J., additional, Webb, Bradley T., additional, Weickert, Cynthia Shannon, additional, Weickert, Thomas W., additional, Weinsheimer, Shantel Marie, additional, Wellmann, Jürgen, additional, Willemsen, Gonneke, additional, Witt, Stephanie H., additional, Wu, Yang, additional, Xi, Hualin S., additional, Xu, Wei, additional, Yang, Jian, additional, Young, Allan H., additional, Zandi, Peter, additional, Zhang, Peng, additional, Zhang, Futao, additional, Zollner, Sebastian, additional, Adolfsson, Rolf, additional, Agartz, Ingrid, additional, Alda, Martin, additional, Arolt, Volker, additional, Backlund, Lena, additional, Baune, Bernhard T., additional, Bellivier, Frank, additional, Berger, Klaus, additional, Berrettini, Wade H., additional, Biernacka, Joanna M., additional, Blackwood, Douglas H.R., additional, Boehnke, Michael, additional, Boomsma, Dorret I., additional, Corvin, Aiden, additional, Craddock, Nicholas, additional, Daly, Mark J., additional, Dannlowski, Udo, additional, Domenici, Enrico, additional, Domschke, Katharina, additional, Esko, Tõnu, additional, Etain, Bruno, additional, Frye, Mark, additional, Fullerton, Janice M., additional, Gershon, Elliot S., additional, de Geus, E.J.C., additional, Gill, Michael, additional, Goes, Fernando, additional, Grabe, Hans J., additional, Grigoroiu-Serbanescu, Maria, additional, Hamilton, Steven P., additional, Hauser, Joanna, additional, Hayward, Caroline, additional, Heath, Andrew C., additional, Hougaard, David M., additional, Hultman, Christina M., additional, Jones, Ian, additional, Jones, Lisa A., additional, Kahn, René S., additional, Kendler, Kenneth S., additional, Kirov, George, additional, Kloiber, Stefan, additional, Landén, Mikael, additional, Leboyer, Marion, additional, Lewis, Glyn, additional, Li, Qingqin S., additional, Lissowska, Jolanta, additional, Lucae, Susanne, additional, Madden, Pamela A.F., additional, Magnusson, Patrik K., additional, Martin, Nicholas G., additional, Mayoral, Fermin, additional, McElroy, Susan L., additional, McIntosh, Andrew M., additional, McMahon, Francis J., additional, Melle, Ingrid, additional, Metspalu, Andres, additional, Mitchell, Philip B., additional, Morken, Gunnar, additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Müller-Myhsok, Bertram, additional, Myers, Richard M., additional, Neale, Benjamin M., additional, Nimgaonkar, Vishwajit, additional, Nordentoft, Merete, additional, Nöthen, Markus M., additional, O'Donovan, Michael C., additional, Oedegaard, Ketil J., additional, Owen, Michael J., additional, Paciga, Sara A., additional, Pato, Carlos, additional, Pato, Michele T., additional, Pedersen, Nancy L., additional, Penninx, Brenda W.J. H., additional, Perlis, Roy H., additional, Porteous, David J., additional, Posthuma, Danielle, additional, Potash, James B., additional, Preisig, Martin, additional, Ramos-Quiroga, Josep Antoni, additional, Ribasés, Marta, additional, Rietschel, Marcella, additional, Rouleau, Guy A., additional, Schaefer, Catherine, additional, Schalling, Martin, additional, Schofield, Peter R., additional, Schulze, Thomas G., additional, Serretti, Alessandro, additional, Smoller, Jordan W., additional, Stefansson, Hreinn, additional, Stefansson, Kari, additional, Stordal, Eystein, additional, Tiemeier, Henning, additional, Turecki, Gustavo, additional, Uher, Rudolf, additional, Vaaler, Arne E., additional, Vieta, Eduard, additional, Vincent, John B., additional, Völzke, Henry, additional, Weissman, Myrna M., additional, Werge, Thomas, additional, Andreassen, Ole A., additional, Børglum, Anders D., additional, Cichon, Sven, additional, Edenberg, Howard J., additional, Di Florio, Arianna, additional, Kelsoe, John, additional, Levinson, Douglas F., additional, Lewis, Cathryn M., additional, Nurnberger, John I., additional, Ophoff, Roel A., additional, Scott, Laura J., additional, Sklar, Pamela, additional, Sullivan, Patrick F., additional, and Wray, Naomi R., additional

Published
2020
Full Text
View/download PDF

40. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author

Bryois, J. Skene, N.G. Hansen, T.F. Kogelman, L.J.A. Watson, H.J. Liu, Z. Adan, R. Alfredsson, L. Ando, T. Andreassen, O. Baker, J. Bergen, A. Berrettini, W. Birgegård, A. Boden, J. Boehm, I. Boni, C. Boraska Perica, V. Brandt, H. Breen, G. Bryois, J. Buehren, K. Bulik, C. Burghardt, R. Cassina, M. Cichon, S. Clementi, M. Coleman, J. Cone, R. Courtet, P. Crawford, S. Crow, S. Crowley, J. Danner, U. Davis, O. de Zwaan, M. Dedoussis, G. Degortes, D. DeSocio, J. Dick, D. Dikeos, D. Dina, C. Dmitrzak-Weglarz, M. Docampo Martinez, E. Duncan, L. Egberts, K. Ehrlich, S. Escaramís, G. Esko, T. Estivill, X. Farmer, A. Favaro, A. Fernández-Aranda, F. Fichter, M. Fischer, K. Föcker, M. Foretova, L. Forstner, A. Forzan, M. Franklin, C. Gallinger, S. Gaspar, H. Giegling, I. Giuranna, J. Giusti-Rodríquez, P. Gonidakis, F. Gordon, S. Gorwood, P. Gratacos Mayora, M. Grove, J. Guillaume, S. Guo, Y. Hakonarson, H. Halmi, K. Hanscombe, K. Hatzikotoulas, K. Hauser, J. Hebebrand, J. Helder, S. Henders, A. Herms, S. Herpertz-Dahlmann, B. Herzog, W. Hinney, A. Horwood, L.J. Hübel, C. Huckins, L. Hudson, J. Imgart, H. Inoko, H. Janout, V. Jiménez-Murcia, S. Johnson, C. Jordan, J. Julià, A. Juréus, A. Kalsi, G. Kaminská, D. Kaplan, A. Kaprio, J. Karhunen, L. Karwautz, A. Kas, M. Kaye, W. Kennedy, J. Kennedy, M. Keski-Rahkonen, A. Kiezebrink, K. Kim, Y.-R. Kirk, K. Klareskog, L. Klump, K. Knudsen, G.P. La Via, M. Landén, M. Larsen, J. Le Hellard, S. Leppä, V. Levitan, R. Li, D. Lichtenstein, P. Lilenfeld, L. Lin, B.D. Lissowska, J. Luykx, J. Magistretti, P. Maj, M. Mannik, K. Marsal, S. Marshall, C. Martin, N. Mattheisen, M. Mattingsdal, M. McDevitt, S. McGuffin, P. Medland, S. Metspalu, A. Meulenbelt, I. Micali, N. Mitchell, J. Mitchell, K. Monteleone, P. Monteleone, A.M. Montgomery, G. Mortensen, P.B. Munn-Chernoff, M. Nacmias, B. Navratilova, M. Norring, C. Ntalla, I. Olsen, C. Ophoff, R. O’Toole, J. Padyukov, L. Palotie, A. Pantel, J. Papezova, H. Parker, R. Pearson, J. Pedersen, N. Petersen, L. Pinto, D. Purves, K. Rabionet, R. Raevuori, A. Ramoz, N. Reichborn-Kjennerud, T. Ricca, V. Ripatti, S. Ripke, S. Ritschel, F. Roberts, M. Rotondo, A. Rujescu, D. Rybakowski, F. Santonastaso, P. Scherag, A. Scherer, S. Schmidt, U. Schork, N. Schosser, A. Seitz, J. Slachtova, L. Slagboom, P.E. Slof-Op ‘t Landt, M. Slopien, A. Sorbi, S. Strober, M. Stuber, G. Sullivan, P. Świątkowska, B. Szatkiewicz, J. Tachmazidou, I. Tenconi, E. Thornton, L. Tortorella, A. Tozzi, F. Treasure, J. Tsitsika, A. Tyszkiewicz-Nwafor, M. Tziouvas, K. van Elburg, A. van Furth, E. Wade, T. Wagner, G. Walton, E. Watson, H. Werge, T. Whiteman, D. Widen, E. Woodside, D.B. Yao, S. Yilmaz, Z. Zeggini, E. Zerwas, S. Zipfel, S. Anttila, V. Artto, V. Belin, A.C. de Boer, I. Boomsma, D.I. Børte, S. Chasman, D.I. Cherkas, L. Christensen, A.F. Cormand, B. Cuenca-Leon, E. Davey-Smith, G. Dichgans, M. van Duijn, C. Esko, T. Esserlind, A.L. Ferrari, M. Frants, R.R. Freilinger, T. Furlotte, N. Gormley, P. Griffiths, L. Hamalainen, E. Hiekkala, M. Ikram, M.A. Ingason, A. Järvelin, M.-R. Kajanne, R. Kallela, M. Kaprio, J. Kaunisto, M. Kogelman, L.J.A. Kubisch, C. Kurki, M. Kurth, T. Launer, L. Lehtimaki, T. Lessel, D. Ligthart, L. Litterman, N. Maagdenberg, A. Macaya, A. Malik, R. Mangino, M. McMahon, G. Muller-Myhsok, B. Neale, B.M. Northover, C. Nyholt, D.R. Olesen, J. Palotie, A. Palta, P. Pedersen, L. Pedersen, N. Posthuma, D. Pozo-Rosich, P. Pressman, A. Raitakari, O. Schürks, M. Sintas, C. Stefansson, K. Stefansson, H. Steinberg, S. Strachan, D. Terwindt, G. Vila-Pueyo, M. Wessman, M. Winsvold, B.S. Zhao, H. Zwart, J.A. Agee, M. Alipanahi, B. Auton, A. Bell, R. Bryc, K. Elson, S. Fontanillas, P. Furlotte, N. Heilbron, K. Hinds, D. Huber, K. Kleinman, A. Litterman, N. McCreight, J. McIntyre, M. Mountain, J. Noblin, E. Northover, C. Pitts, S. Sathirapongsasuti, J. Sazonova, O. Shelton, J. Shringarpure, S. Tian, C. Tung, J. Vacic, V. Wilson, C. Brueggeman, L. Bulik, C.M. Arenas, E. Hjerling-Leffler, J. Sullivan, P.F. International Headache Genetics Consortium Eating Disorders Working Group of the Psychiatric Genomics Consortium

Abstract

Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2020

41. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author

Leila Karhunen, Geòrgia Escaramís, Ingrid Meulenbelt, Yiran Guo, Matteo Cassina, Stephan Ripke, Alessandro Rotondo, Harry Brandt, Nicholas G. Martin, Andreas Birgegård, Cynthia M. Bulik, Sietske G. Helder, Julie K. O'Toole, Martien J H Kas, Julien Bryois, Nancy L. Pedersen, Philippe Courtet, Virpi M. Leppä, Konstantinos Hatzikotoulas, Liselotte Petersen, Paola Giusti-Rodríguez, André Scherag, Roger A.H. Adan, George Dedoussis, Laramie E. Duncan, John F. Pearson, Helena Gaspar, Andrew W. Bergen, Jurjen J. Luykx, Paul Lichtenstein, Jin P. Szatkiewicz, Lisa R. Lilenfeld, James L. Kennedy, Sébastien Guillaume, Angela Favaro, Artemis Tsitsika, Sara Marsal, Tõnu Esko, Joseph M. Boden, Janiece E. DeSocio, Stefan Ehrlich, Michael Strober, Laura M. Huckins, Alexandra Schosser, Katherine M. Kirk, Gun Peggy Knudsen, Dalila Pinto, Garret D. Stuber, Nicolas Ramoz, Dimitris Dikeos, Jochen Seitz, Stephanie Zerwas, Jolanta Lissowska, Jacques Pantel, Palmiero Monteleone, Katherine A. Halmi, Alessio Maria Monteleone, Scott D. Gordon, Ulrike Schmidt, Franziska Ritschel, Ted Reichborn-Kjennerud, Jennifer Jordan, Ina Giegling, Grant W. Montgomery, Morten Mattingsdal, Esther Walton, Andreas Karwautz, Federica Tozzi, Marion Roberts, Vladimir Janout, P. Eline Slagboom, Laura M. Thornton, Hana Papezova, Mikael Landén, Deborah Kaminská, Robert D. Levitan, Daniela Degortes, Manuel Föcker, Kirsty Kiezebrink, Wolfgang Herzog, Katharina Buehren, Benedetta Nacmias, Christopher Hübel, Eleftheria Zeggini, L. John Horwood, Maria La Via, Claes Norring, Karin Egberts, Nadia Micali, Filip Rybakowski, Monica Forzan, Katrin Männik, Konstantinos Tziouvas, Ioanna Tachmazidou, Thomas Werge, Tracey D. Wade, Raquel Rabionet, Scott J. Crow, Antonio Julià, Jonathan R. I. Coleman, Susana Jiménez-Murcia, Claudette Boni, Roland Burghardt, Christopher S. Franklin, Alfonso Tortorella, Fragiskos Gonidakis, Ioanna Ntalla, Anke Hinney, Jaakko Kaprio, Lenka Slachtova, Anu Raevuori, Sandro Sorbi, Richard Parker, Johanna Giuranna, Kirstin L. Purves, Stephan Zipfel, James J. Crowley, Hidetoshi Inoko, Janet Treasure, Shuyang Yao, Leonid Padyukov, Youl-Ri Kim, Monica Gratacos Mayora, Joanna Hauser, Manfred M. Fichter, Samuli Ripatti, Zeynep Yilmaz, Stephanie Le Hellard, Bochao Danae Lin, Wade H. Berrettini, Gursharan Kalsi, Anders Juréus, Oliver S. P. Davis, Ilka Boehm, Lars Klareskog, Lenka Foretova, Ken B. Hanscombe, Janne Tidselbak Larsen, Hunna J. Watson, Beate Herpertz-Dahlmann, Krista Fischer, Xavier Estivill, Vesna Boraska Perica, Karen S. Mitchell, Andreas J. Forstner, Stefan Herms, Eric F. van Furth, Kelly L. Klump, Anjali K. Henders, Fernando Fernández-Aranda, David C. Whiteman, Catherine M. Olsen, James E. Mitchell, Martina de Zwaan, Johannes Hebebrand, Manuel Mattheisen, Anne Farmer, Agnieszka Słopień, Christian Dina, Dong Li, Marie Navratilova, Sarah E. Medland, Steven Crawford, Elisa Docampo, Craig Johnson, Tetsuya Ando, Elena Tenconi, Roger D. Cone, Sara McDevitt, Allan S. Kaplan, Patrick F. Sullivan, Paolo Santonastaso, Gudrun Wagner, James I. Hudson, Mario Maj, Margarita C T Slof-Op 't Landt, Anna Keski-Rahkonen, Annemarie A. van Elburg, Marta Tyszkiewicz-Nwafor, Danielle M. Dick, Beata Świątkowska, Sven Cichon, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Stephen W. Scherer, Maurizio Clementi, Valdo Ricca, D. Blake Woodside, Roel A. Ophoff, Unna N. Danner, Aarno Palotie, Elisabeth Widen, Nicholas J. Schork, Jakob Grove, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Melissa A. Munn-Chernoff, Hakon Hakonarson, Martin A. Kennedy, Dan Rujescu, Gerome Breen, Lars Alfredsson, Hartmut Imgart, Steven Gallinger, Ole A. Andreassen, Monika Dmitrzak-Weglarz, Pierre J. Magistretti, Andres Metspalu, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Department of Psychiatry [Philadelphia], University of Pennsylvania [Philadelphia], Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Azienda Ospedaliera di Padova, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Athens Medical School [Athens], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, Department of Psychiatry (IDIBELL), CIBERobn Fisiopatología de la Obesidad y Nutrición-University Hospital of Bellvitge, Masaryk Memorial Cancer Institute and Medical Faculty of Masaryk University, Universitätsklinikum Bonn (UKB), National and Kapodistrian University of Athens (NKUA), The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinikum Essen, Universität Duisburg-Essen [Essen], Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Tokai University, Department of Optics [Univ Palacký], Faculty of Science [Univ Palacký], Palacky University Olomouc-Palacky University Olomouc, Vall d'Hebron University Hospital [Barcelona], National Institute for Health and Welfare [Helsinki], Medizinische Universität Wien = Medical University of Vienna, University of Helsinki, Rheumatology Unit, Karolinska Institutet [Stockholm], University of Bergen (UiB), The M Sklodowska-Curie Cancer Center and Institute of Oncology, Università degli studi della Campania 'Luigi Vanvitelli', Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, Estonian Genome and Medicine, University of Tartu, Section Molecular Epidemiology, Leiden University Medical Center (LUMC), Institute of Psychiatry, King's College, Università degli Studi di Salerno (UNISA), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Masaryk Memorial Cancer Institute (RECAMO), Department of Psychiatry, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Vanderbilt University School of Medicine [Nashville], Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm - Paris Descartes), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Charles University [Prague] (CU), Norwegian Institute of Public Health [Oslo] (NIPH), Department of Medical Epidemiology and Biostatistics (MEB), Medstar Research Institute, Institute of Medical Informatics, Biometry and Epidemiology, The Scripps Translational Science Institute and The Scripps Research Institute, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Molecular Epidemiology, The Jackson Laboratory [Bar Harbor] (JAX), Università degli Studi di Perugia (UNIPG), Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Utrecht University [Utrecht], Human Genetics, The Wellcome Trust Sanger Institute [Cambridge], Oregon Research Institute (ORI), Weill Medical College of Cornell University [New York], Institute for Marine and Antarctic Studies [Horbat] (IMAS), University of Tasmania [Hobart, Australia] (UTAS), University of California [San Diego] (UC San Diego), University of California, QIMR Berghofer Medical Research Institute, Department of Physics and Astronomy [Leicester], University of Leicester, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Aarhus University [Aarhus], Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K, National Centre for Register-based Research, School of Computing [Dublin], Dublin City University [Dublin] (DCU), Department of medicine [Stockholm], Karolinska Institutet [Stockholm]-Karolinska University Hospital [Stockholm], Queensland Institute of Medical Research, Department of Genomics, Leiden University Medical Center (LUMC), Watson, H. J., Yilmaz, Z., Thornton, L. M., Hubel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Medland, S. E., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Purves, K. L., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Baker, J. H., Berrettini, W. H., Boehm, I., Boni, C., Perica, V. B., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Mayora, M. G., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Kaprio, J., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klareskog, L., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Munn-Chernoff, M. A., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op 't Landt, M. C. T., Slopien, A., Sorbi, S., Swiatkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J. E., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Stuber, G. D., Gordon, S., Grove, J., Henders, A. K., Jureus, A., Kirk, K. M., Larsen, J. T., Parker, R., Petersen, L., Jordan, J., Kennedy, M., Montgomery, G. W., Wade, T. D., Birgegard, A., Lichtenstein, P., Norring, C., Landen, M., Martin, N. G., Mortensen, P. B., Sullivan, P. F., Breen, G., Bulik, C. M., and Kas lab

Subjects
Male, Anorexia Nervosa, LD SCORE REGRESSION, Medizin, Genome-wide association study, MYC, VARIANTS, Body Mass Index, ddc:616.89, 0302 clinical medicine, POLYGENIC RISK, genetics, molecular biology, anorexia nervosa, Anorexia Nervosa/etiology/genetics/pathology, 0303 health sciences, Metabolic Diseases/complications/genetics, HERITABILITY, Mental Disorders, Anorèxia nerviosa, Genomics, metabo-psychiatric origins, Prognosis, 3. Good health, PREVALENCE, Eating disorders, INSIGHTS, Phenotype, Anorexia nervosa (differential diagnoses), Medical genetics, Female, GENETIC CORRELATIONS, Adult, medicine.medical_specialty, Quantitative Trait Loci, Biology, Article, 03 medical and health sciences, Metabolic Diseases, mental disorders, medicine, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, Psychiatry, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Case-control study, EATING-DISORDERS, Anorexia nervosa, medicine.disease, Comorbidity, Genetic architecture, Genomics/methods, Genòmica, Case-Control Studies, Mental Disorders/complications/genetics, COMORBIDITY, Body mass index, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness 1, affecting 0.9–4% of women and 0.3% of men 2–4, with twin-based heritability estimates of 50–60% 5. Mortality rates are higher than those in other psychiatric disorders 6, and outcomes are unacceptably poor 7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI) 8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.

Published
2019
Full Text
View/download PDF

42. Plasma neurofilament light chain concentration is increased in anorexia nervosa

Author

Cynthia M. Bulik, Virginija Danylaité Karrenbauer, Kaj Blennow, Anders Juréus, Martin Schalling, Claes Norring, Henrik Zetterberg, Vincent Millischer, Alireza M. Salehi, Yvonne von Hausswolff-Juhlin, Ida A. K. Nilsson, and Mikael Landén

Subjects
0301 basic medicine, Adult, medicine.medical_specialty, Anorexia Nervosa, Neurofilament light, Molecular neuroscience, Article, lcsh:RC321-571, Body Mass Index, White matter, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Negatively associated, Neurofilament Proteins, Internal medicine, Medicine, Humans, Young adult, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, business.industry, Plasma levels, Middle Aged, Pathophysiology, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Anorexia nervosa (differential diagnoses), Disease Progression, Female, business, Psychiatric disorders, Body mass index, 030217 neurology & neurosurgery, Biomarkers
Abstract

Anorexia nervosa (AN) is a severe psychiatric disorder with high mortality and, to a large extent, unknown pathophysiology. Structural brain differences, such as global or focal reductions in grey or white matter volumes, as well as enlargement of the sulci and the ventricles, have repeatedly been observed in individuals with AN. However, many of the documented aberrances normalize with weight recovery, even though some studies show enduring changes. To further explore whether AN is associated with neuronal damage, we analysed the levels of neurofilament light chain (NfL), a marker reflecting ongoing neuronal injury, in plasma samples from females with AN, females recovered from AN (AN-REC) and normal-weight age-matched female controls (CTRLS). We detected significantly increased plasma levels of NfL in AN vs CTRLS (medianAN = 15.6 pg/ml, IQRAN = 12.1–21.3, medianCTRL = 9.3 pg/ml, IQRCTRL = 6.4–12.9, and p AN-REC = 11.1 pg/ml, IQRAN-REC = 8.6–15.5, and p p = 0.004). The plasma levels of NfL are negatively associated with BMI overall samples (β (±se) = −0.62 ± 0.087 and p = 6.9‧10−12). This indicates that AN is associated with neuronal damage that partially normalizes with weight recovery. Further studies are needed to determine which brain areas are affected, and potential long-term sequelae.

Published
2019

45. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author

Bryois, J. Skene, N.G. Hansen, T.F. Kogelman, L.J.A. Watson, H.J. Liu, Z. Adan, R. Alfredsson, L. Ando, T. Andreassen, O. Baker, J. Bergen, A. Berrettini, W. Birgegård, A. Boden, J. Boehm, I. Boni, C. Boraska Perica, V. Brandt, H. Breen, G. Bryois, J. Buehren, K. Bulik, C. Burghardt, R. Cassina, M. Cichon, S. Clementi, M. Coleman, J. Cone, R. Courtet, P. Crawford, S. Crow, S. Crowley, J. Danner, U. Davis, O. de Zwaan, M. Dedoussis, G. Degortes, D. DeSocio, J. Dick, D. Dikeos, D. Dina, C. Dmitrzak-Weglarz, M. Docampo Martinez, E. Duncan, L. Egberts, K. Ehrlich, S. Escaramís, G. Esko, T. Estivill, X. Farmer, A. Favaro, A. Fernández-Aranda, F. Fichter, M. Fischer, K. Föcker, M. Foretova, L. Forstner, A. Forzan, M. Franklin, C. Gallinger, S. Gaspar, H. Giegling, I. Giuranna, J. Giusti-Rodríquez, P. Gonidakis, F. Gordon, S. Gorwood, P. Gratacos Mayora, M. Grove, J. Guillaume, S. Guo, Y. Hakonarson, H. Halmi, K. Hanscombe, K. Hatzikotoulas, K. Hauser, J. Hebebrand, J. Helder, S. Henders, A. Herms, S. Herpertz-Dahlmann, B. Herzog, W. Hinney, A. Horwood, L.J. Hübel, C. Huckins, L. Hudson, J. Imgart, H. Inoko, H. Janout, V. Jiménez-Murcia, S. Johnson, C. Jordan, J. Julià, A. Juréus, A. Kalsi, G. Kaminská, D. Kaplan, A. Kaprio, J. Karhunen, L. Karwautz, A. Kas, M. Kaye, W. Kennedy, J. Kennedy, M. Keski-Rahkonen, A. Kiezebrink, K. Kim, Y.-R. Kirk, K. Klareskog, L. Klump, K. Knudsen, G.P. La Via, M. Landén, M. Larsen, J. Le Hellard, S. Leppä, V. Levitan, R. Li, D. Lichtenstein, P. Lilenfeld, L. Lin, B.D. Lissowska, J. Luykx, J. Magistretti, P. Maj, M. Mannik, K. Marsal, S. Marshall, C. Martin, N. Mattheisen, M. Mattingsdal, M. McDevitt, S. McGuffin, P. Medland, S. Metspalu, A. Meulenbelt, I. Micali, N. Mitchell, J. Mitchell, K. Monteleone, P. Monteleone, A.M. Montgomery, G. Mortensen, P.B. Munn-Chernoff, M. Nacmias, B. Navratilova, M. Norring, C. Ntalla, I. Olsen, C. Ophoff, R. O’Toole, J. Padyukov, L. Palotie, A. Pantel, J. Papezova, H. Parker, R. Pearson, J. Pedersen, N. Pete and Bryois, J. Skene, N.G. Hansen, T.F. Kogelman, L.J.A. Watson, H.J. Liu, Z. Adan, R. Alfredsson, L. Ando, T. Andreassen, O. Baker, J. Bergen, A. Berrettini, W. Birgegård, A. Boden, J. Boehm, I. Boni, C. Boraska Perica, V. Brandt, H. Breen, G. Bryois, J. Buehren, K. Bulik, C. Burghardt, R. Cassina, M. Cichon, S. Clementi, M. Coleman, J. Cone, R. Courtet, P. Crawford, S. Crow, S. Crowley, J. Danner, U. Davis, O. de Zwaan, M. Dedoussis, G. Degortes, D. DeSocio, J. Dick, D. Dikeos, D. Dina, C. Dmitrzak-Weglarz, M. Docampo Martinez, E. Duncan, L. Egberts, K. Ehrlich, S. Escaramís, G. Esko, T. Estivill, X. Farmer, A. Favaro, A. Fernández-Aranda, F. Fichter, M. Fischer, K. Föcker, M. Foretova, L. Forstner, A. Forzan, M. Franklin, C. Gallinger, S. Gaspar, H. Giegling, I. Giuranna, J. Giusti-Rodríquez, P. Gonidakis, F. Gordon, S. Gorwood, P. Gratacos Mayora, M. Grove, J. Guillaume, S. Guo, Y. Hakonarson, H. Halmi, K. Hanscombe, K. Hatzikotoulas, K. Hauser, J. Hebebrand, J. Helder, S. Henders, A. Herms, S. Herpertz-Dahlmann, B. Herzog, W. Hinney, A. Horwood, L.J. Hübel, C. Huckins, L. Hudson, J. Imgart, H. Inoko, H. Janout, V. Jiménez-Murcia, S. Johnson, C. Jordan, J. Julià, A. Juréus, A. Kalsi, G. Kaminská, D. Kaplan, A. Kaprio, J. Karhunen, L. Karwautz, A. Kas, M. Kaye, W. Kennedy, J. Kennedy, M. Keski-Rahkonen, A. Kiezebrink, K. Kim, Y.-R. Kirk, K. Klareskog, L. Klump, K. Knudsen, G.P. La Via, M. Landén, M. Larsen, J. Le Hellard, S. Leppä, V. Levitan, R. Li, D. Lichtenstein, P. Lilenfeld, L. Lin, B.D. Lissowska, J. Luykx, J. Magistretti, P. Maj, M. Mannik, K. Marsal, S. Marshall, C. Martin, N. Mattheisen, M. Mattingsdal, M. McDevitt, S. McGuffin, P. Medland, S. Metspalu, A. Meulenbelt, I. Micali, N. Mitchell, J. Mitchell, K. Monteleone, P. Monteleone, A.M. Montgomery, G. Mortensen, P.B. Munn-Chernoff, M. Nacmias, B. Navratilova, M. Norring, C. Ntalla, I. Olsen, C. Ophoff, R. O’Toole, J. Padyukov, L. Palotie, A. Pantel, J. Papezova, H. Parker, R. Pearson, J. Pedersen, N. Pete

Abstract

Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2020

46. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author

Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, other, and, Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, and other, and

Abstract

Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease.

Published
2020

47. Long-term subjective memory after electroconvulsive therapy

Author

Sigström, Robert, Nordenskjöld, Axel, Juréus, Anders, Clements, Caitlin, Joas, Erik, Pålsson, Erik, Landén, Mikael, Sigström, Robert, Nordenskjöld, Axel, Juréus, Anders, Clements, Caitlin, Joas, Erik, Pålsson, Erik, and Landén, Mikael

Abstract

BACKGROUND: There have been reports of long-term subjective memory worsening after electroconvulsive therapy (ECT). AIMS: To study the prevalence and risk factors of long-term subjective memory worsening among patients receiving ECT in routine clinical practice. METHOD: Patients (n = 535, of whom 277 were included in the final analysis) were recruited from eight Swedish hospitals. Participants' subjective memory impairment was assessed before ECT and a median of 73 days after ECT using the memory item from the Comprehensive Psychopathological Rating Scale. Participants also rated their pre-ECT expectations and post-ECT evaluations of the effect of ECT on memory on a 7-point scale. We used ordinal regression to identify variables associated with subjective memory worsening and negative evaluations of the effect of ECT on memory. RESULTS: Comparisons of pre- and post-ECT assessments showed that subjective memory worsened in 16.2% of participants, remained unchanged in 52.3% and improved in 31.4%. By contrast, when asked to evaluate the effect of ECT on memory after treatment 54.6% reported a negative effect. Subjective memory worsening was associated with negative expectations before ECT, younger age and shorter duration of follow-up. CONCLUSIONS: Although subjective memory improved more often than it worsened when assessed before and after ECT, a majority of patients reported that ECT had negative effects on their memory when retrospectively asked how ECT had affected it. This might suggest that some patients attribute pre-existing subjective memory impairment to ECT. Clinicians should be aware that negative expectations are associated with subjective worsening of memory after ECT., Funding Agency:Swedish Government under the LUA/ALF ALFGBG-716801

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results