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33 results on '"Muglia P"'

1. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author: Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
Abstract: Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
Published: 2020

2. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Author: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedláček, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Acampado, J, Ace, AJ, Amatya, A, Astrovskaya, I, Bashar, A, Brooks, E, Butler, ME, Cartner, LA, Chin, W, Chung, WK, Daniels, AM, Feliciano, P, Fleisch, C, Ganesan, S, Jensen, W, Lash, AE, Marini, R, Myers, VJ, O’Connor, E, Rigby, C, Robertson, BE, Shah, N, Shah, S, Singer, E, Snyder, LAG, Stephens, AN, Tjernagel, J, Vernoia, BM, Volfovsky, N, White, LC, Hsieh, A, Shen, Y, Zhou, X, Turner, TN, Bahl, E, Thomas, TR, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedláček, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Acampado, J, Ace, AJ, Amatya, A, Astrovskaya, I, Bashar, A, Brooks, E, Butler, ME, Cartner, LA, Chin, W, Chung, WK, Daniels, AM, Feliciano, P, Fleisch, C, Ganesan, S, Jensen, W, Lash, AE, Marini, R, Myers, VJ, O’Connor, E, Rigby, C, Robertson, BE, Shah, N, Shah, S, Singer, E, Snyder, LAG, Stephens, AN, Tjernagel, J, Vernoia, BM, Volfovsky, N, White, LC, Hsieh, A, Shen, Y, Zhou, X, Turner, TN, Bahl, E, and Thomas, TR
Abstract: The original version of this Article contained an error on page 5 of the Results section, which incorrectly read ‘They are characterized by craniofacial dysmorphisms (9/10), thin vermillion border and lips (4/7), and feeding difficulties (6/11), and exhibit neonatal hypotonia (10/7)’. The correct version states ‘They are characterized by craniofacial dysmorphisms (9/10), thin vermillion border and lips (4/7), and feeding difficulties (6/11), and exhibit neonatal hypotonia (7/10)’.
Published: 2020

3. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

Author: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, and Eichler, EE
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2020

4. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, and Eichler, EE
Abstract: Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
Published: 2020

5. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author: Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
Abstract: Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
Published: 2020

6. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author: Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
Abstract: Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
Published: 2020

7. Identification of pathways for bipolar disorder: A meta-analysis

Author: Nurnberger, JI, Koller, DL, Jung, J, Edenberg, HJ, Foroud, T, Guella, I, Vawter, MP, Kelsoe, JR, Sklar, P, Ripke, S, Scott, LJ, Andreassen, OA, Cichon, S, Craddock, N, Rietschel, M, Blackwood, D, Corvin, A, Flickinger, M, Guan, W, Mattingsdal, M, McQuillin, A, Kwan, P, Wienker, TF, Daly, M, Dudbridge, F, Holmans, PA, Lin, D, Burmeister, M, Greenwood, TA, Hamshere, ML, Muglia, P, Smith, EN, Zandi, PP, Nievergelt, CM, McKinney, R, Shilling, PD, Schork, NJ, Bloss, CS, Gershon, ES, Liu, C, Badner, JA, Scheftner, WA, Lawson, WB, Nwulia, EA, Hipolito, M, Coryell, W, Rice, J, Byerley, W, McMahon, FJ, Schulze, TG, Berrettini, W, Lohoff, FW, Potash, JB, Mahon, PB, McInnis, MG, Zollner, S, Zhang, P, Craig, DW, Szelinger, S, Barrett, TB, Breuer, R, Meier, S, Strohmaier, J, Witt, SH, Tozzi, F, Farmer, A, McGuffin, P, Strauss, J, Xu, W, Kennedy, JL, Vincent, JB, Matthews, K, Day, R, Ferreira, MA, O'Dushlaine, C, Perlis, R, Raychaudhuri, S, Ruderfer, D, Lee, PH, Smoller, JW, Li, J, Absher, D, Bunney, WE, Barchas, JD, Schatzberg, AF, Jones, EG, Meng, F, Thompson, RC, Watson, SJ, Myers, RM, Akil, H, Boehnke, M, Chambert, K, Moran, J, Scolnick, EM, Djurovic, S, Melle, I, Morken, G, Gill, M, Morris, D, Nurnberger, JI, Koller, DL, Jung, J, Edenberg, HJ, Foroud, T, Guella, I, Vawter, MP, Kelsoe, JR, Sklar, P, Ripke, S, Scott, LJ, Andreassen, OA, Cichon, S, Craddock, N, Rietschel, M, Blackwood, D, Corvin, A, Flickinger, M, Guan, W, Mattingsdal, M, McQuillin, A, Kwan, P, Wienker, TF, Daly, M, Dudbridge, F, Holmans, PA, Lin, D, Burmeister, M, Greenwood, TA, Hamshere, ML, Muglia, P, Smith, EN, Zandi, PP, Nievergelt, CM, McKinney, R, Shilling, PD, Schork, NJ, Bloss, CS, Gershon, ES, Liu, C, Badner, JA, Scheftner, WA, Lawson, WB, Nwulia, EA, Hipolito, M, Coryell, W, Rice, J, Byerley, W, McMahon, FJ, Schulze, TG, Berrettini, W, Lohoff, FW, Potash, JB, Mahon, PB, McInnis, MG, Zollner, S, Zhang, P, Craig, DW, Szelinger, S, Barrett, TB, Breuer, R, Meier, S, Strohmaier, J, Witt, SH, Tozzi, F, Farmer, A, McGuffin, P, Strauss, J, Xu, W, Kennedy, JL, Vincent, JB, Matthews, K, Day, R, Ferreira, MA, O'Dushlaine, C, Perlis, R, Raychaudhuri, S, Ruderfer, D, Lee, PH, Smoller, JW, Li, J, Absher, D, Bunney, WE, Barchas, JD, Schatzberg, AF, Jones, EG, Meng, F, Thompson, RC, Watson, SJ, Myers, RM, Akil, H, Boehnke, M, Chambert, K, Moran, J, Scolnick, EM, Djurovic, S, Melle, I, Morken, G, Gill, M, and Morris, D
Abstract: IMPORTANCE Genome-wide investigations provide systematic information regarding the neurobiology of psychiatric disorders. OBJECTIVE To identify biological pathways that contribute to risk for bipolar disorder (BP) using genes with consistent evidence for association in multiple genome-wide association studies (GWAS). DATA SOURCES Four independent data sets with individual genome-wide data available in July 2011 along with all data sets contributed to the Psychiatric Genomics Consortium Bipolar Group by May 2012. A prior meta-analysis was used as a source for brain gene expression data. STUDY SELECTION The 4 published GWAS were included in the initial sample. All independent BP data sets providing genome-wide data in the Psychiatric Genomics Consortium were included as a replication sample. DATA EXTRACTION AND SYNTHESIS We identified 966 genes that contained 2 or more variants associated with BP at P < .05 in 3 of 4 GWAS data sets (n = 12 127 [5253 cases, 6874 controls]). Simulations using 10 000 replicates of these data sets corrected for gene size and allowed the calculation of an empirical P value for each gene; empirically significant genes were entered into a pathway analysis. Each of these pathways was then tested in the replication sample (n = 8396 [3507 cases, 4889 controls]) using gene set enrichment analysis for single-nucleotide polymorphisms. The 226 genes were also compared with results from ameta-analysis of gene expression in the dorsolateral prefrontal cortex. MAIN OUTCOMES AND MEASURES Empirically significant genes and biological pathways. RESULTS Among 966 genes, 226 were empirically significant (P < .05). Seventeen pathways were overrepresented in analyses of the initial data set. Six of the 17 pathways were associated with BP in both the initial and replication samples: corticotropin-releasing hormone signaling, cardiac β-adrenergic signaling, phospholipase C signaling, glutamate receptor signaling, endothelin 1 signaling, and cardiac hypertrophy
Published: 2014

8. A common biological basis of obesity and nicotine addiction

Author: Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), Francks, C. (Clyde), Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), and Francks, C. (Clyde)
Abstract: Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked per day (CPD) in an Icelandic sample (N=34 216 smokers). Combined according to their effect on BMI, the SNPs correlate with both SI (r=0.019, P=0.00054) and CPD (r=0.032, P=8.0 × 10-7). These findings replicate in a second large data set (N=127 274, thereof 76 242 smokers) for both SI (P=1.2 × 10-5) and CPD (P=9.3 × 10-5). Notably, the variant most strongly associated with BMI (rs1558902-A in FTO) did not associate with smoking behavior. The association with smoking behavior is not due to the effect of the SNPs on BMI. Our results strongly point to a common biological basis of the regulation of our appetite for tobacco and food, and thus the vulnerability to nicotine addiction and obesity.
Published: 2013
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9. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Author: Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., Collier, D., Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., and Collier, D.
Abstract: 1 september 2011, Item does not contain fulltext, The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism.
Published: 2011

10. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

Author: Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., Stefansson, K., Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., and Stefansson, K.
Abstract: Contains fulltext : 97739.pdf (publisher's version ) (Closed access), Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 x 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 x 10(-9)).
Published: 2011

11. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

Author: Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., Roux, L. le, Gustafsson, O., Craddock, N., Moller, H.J., McQuillin, A., Muglia, P., Cichon, S., Rietschel, M., Ophoff, R.A., Djurovic, S., Andreassen, O.A., Pietilainen, O.P.H., Peltonen, L., Dempster, E., Collier, D.A., St Clair, D., Rasmussen, H.B., Glenthoj, B.Y., Kiemeney, L.A.L.M., Franke, B., Tosato, S., Bonetto, C., Saemundsen, E., Hreidarsson, S.J., Nothen, Markus, Gurling, H., O'Donovan, M.C., Owen, M.J., Sigurdsson, E., Petursson, H., Stefansson, H., Rujescu, D., Stefansson, K., Werge, T., Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., Roux, L. le, Gustafsson, O., Craddock, N., Moller, H.J., McQuillin, A., Muglia, P., Cichon, S., Rietschel, M., Ophoff, R.A., Djurovic, S., Andreassen, O.A., Pietilainen, O.P.H., Peltonen, L., Dempster, E., Collier, D.A., St Clair, D., Rasmussen, H.B., Glenthoj, B.Y., Kiemeney, L.A.L.M., Franke, B., Tosato, S., Bonetto, C., Saemundsen, E., Hreidarsson, S.J., Nothen, Markus, Gurling, H., O'Donovan, M.C., Owen, M.J., Sigurdsson, E., Petursson, H., Stefansson, H., Rujescu, D., Stefansson, K., and Werge, T.
Abstract: Contains fulltext : 97099.pdf (publisher's version ) (Closed access), OBJECTIVE: Rare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors observed in one patient a maternally derived 15q11-q13 duplication overlapping the Prader-Willi/Angelman syndrome critical region. This prompted investigation of the role of 15q11-q13 duplications in psychotic illness. METHOD: The authors scanned 7,582 patients with schizophrenia or schizoaffective disorder and 41,370 comparison subjects without known psychiatric illness for copy number variants at 15q11-q13 and determined the parental origin of duplications using methylation-sensitive Southern hybridization analysis. RESULTS: Duplications were found in four case patients and five comparison subjects. All four case patients had maternally derived duplications (0.05%), while only three of the five comparison duplications were maternally derived (0.007%), resulting in a significant excess of maternally derived duplications in case patients (odds ratio=7.3). This excess is compatible with earlier observations that risk for psychosis in people with Prader-Willi syndrome caused by maternal uniparental disomy is much higher than in those caused by deletion of the paternal chromosome. CONCLUSIONS: These findings suggest that the presence of two maternal copies of a fragment of chromosome 15q11.2-q13.1 that overlaps with the Prader-Willi/Angelman syndrome critical region may be a rare risk factor for schizophrenia and other psychoses. Given that maternal duplications of this region are among the most consistent cytogenetic observations in autism, the findings provide further support for a shared genetic etiology between autism and psychosis.
Published: 2011

12. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author: Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietilainen, O.P.H., Buizer-Voskamp, J.E., Strengman, E., Francks, C., Muglia, P., Gylfason, A, Gustafsson, O., Olason, P.I., Steinberg, S., Hansen, T., Jakobsen, K.D., Rasmussen, H.B., Giegling, I., Moller, H.J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L.A.L.M., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Muhleisen, T.W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O.A., Zhang, Z., Werge, T., Ophoff, R.A., Rietschel, M., Nothen, Markus, Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., St Clair, D.M., Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietilainen, O.P.H., Buizer-Voskamp, J.E., Strengman, E., Francks, C., Muglia, P., Gylfason, A, Gustafsson, O., Olason, P.I., Steinberg, S., Hansen, T., Jakobsen, K.D., Rasmussen, H.B., Giegling, I., Moller, H.J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L.A.L.M., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Muhleisen, T.W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O.A., Zhang, Z., Werge, T., Ophoff, R.A., Rietschel, M., Nothen, Markus, Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., and St Clair, D.M.
Abstract: Contains fulltext : 96767.pdf (publisher's version ) (Closed access), Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
Published: 2011

13. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Author: Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., Collier, D., Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., and Collier, D.
Abstract: 01 september 2011, Item does not contain fulltext, The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism.
Published: 2011

14. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

Author: Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., Stefansson, K., Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., and Stefansson, K.
Abstract: Contains fulltext : 97739.pdf (publisher's version ) (Closed access), Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 x 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 x 10(-9)).
Published: 2011

15. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

Author: Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., Roux, L. le, Gustafsson, O., Craddock, N., Moller, H.J., McQuillin, A., Muglia, P., Cichon, S., Rietschel, M., Ophoff, R.A., Djurovic, S., Andreassen, O.A., Pietilainen, O.P.H., Peltonen, L., Dempster, E., Collier, D.A., St Clair, D., Rasmussen, H.B., Glenthoj, B.Y., Kiemeney, L.A.L.M., Franke, B., Tosato, S., Bonetto, C., Saemundsen, E., Hreidarsson, S.J., Nothen, Markus, Gurling, H., O'Donovan, M.C., Owen, M.J., Sigurdsson, E., Petursson, H., Stefansson, H., Rujescu, D., Stefansson, K., Werge, T., Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., Roux, L. le, Gustafsson, O., Craddock, N., Moller, H.J., McQuillin, A., Muglia, P., Cichon, S., Rietschel, M., Ophoff, R.A., Djurovic, S., Andreassen, O.A., Pietilainen, O.P.H., Peltonen, L., Dempster, E., Collier, D.A., St Clair, D., Rasmussen, H.B., Glenthoj, B.Y., Kiemeney, L.A.L.M., Franke, B., Tosato, S., Bonetto, C., Saemundsen, E., Hreidarsson, S.J., Nothen, Markus, Gurling, H., O'Donovan, M.C., Owen, M.J., Sigurdsson, E., Petursson, H., Stefansson, H., Rujescu, D., Stefansson, K., and Werge, T.
Abstract: Contains fulltext : 97099.pdf (publisher's version ) (Closed access), OBJECTIVE: Rare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors observed in one patient a maternally derived 15q11-q13 duplication overlapping the Prader-Willi/Angelman syndrome critical region. This prompted investigation of the role of 15q11-q13 duplications in psychotic illness. METHOD: The authors scanned 7,582 patients with schizophrenia or schizoaffective disorder and 41,370 comparison subjects without known psychiatric illness for copy number variants at 15q11-q13 and determined the parental origin of duplications using methylation-sensitive Southern hybridization analysis. RESULTS: Duplications were found in four case patients and five comparison subjects. All four case patients had maternally derived duplications (0.05%), while only three of the five comparison duplications were maternally derived (0.007%), resulting in a significant excess of maternally derived duplications in case patients (odds ratio=7.3). This excess is compatible with earlier observations that risk for psychosis in people with Prader-Willi syndrome caused by maternal uniparental disomy is much higher than in those caused by deletion of the paternal chromosome. CONCLUSIONS: These findings suggest that the presence of two maternal copies of a fragment of chromosome 15q11.2-q13.1 that overlaps with the Prader-Willi/Angelman syndrome critical region may be a rare risk factor for schizophrenia and other psychoses. Given that maternal duplications of this region are among the most consistent cytogenetic observations in autism, the findings provide further support for a shared genetic etiology between autism and psychosis.
Published: 2011

16. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author: Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietilainen, O.P.H., Buizer-Voskamp, J.E., Strengman, E., Francks, C., Muglia, P., Gylfason, A, Gustafsson, O., Olason, P.I., Steinberg, S., Hansen, T., Jakobsen, K.D., Rasmussen, H.B., Giegling, I., Moller, H.J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L.A.L.M., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Muhleisen, T.W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O.A., Zhang, Z., Werge, T., Ophoff, R.A., Rietschel, M., Nothen, Markus, Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., St Clair, D.M., Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietilainen, O.P.H., Buizer-Voskamp, J.E., Strengman, E., Francks, C., Muglia, P., Gylfason, A, Gustafsson, O., Olason, P.I., Steinberg, S., Hansen, T., Jakobsen, K.D., Rasmussen, H.B., Giegling, I., Moller, H.J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L.A.L.M., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Muhleisen, T.W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O.A., Zhang, Z., Werge, T., Ophoff, R.A., Rietschel, M., Nothen, Markus, Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., and St Clair, D.M.
Abstract: Contains fulltext : 96767.pdf (publisher's version ) (Closed access), Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
Published: 2011

17. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

Author: Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., Stefansson, K., Steinberg, S., Jong, S. de, Andreassen, O.A., Werge, T., Borglum, A.D., Mors, O., Mortensen, P.B., Gustafsson, O., Costas, J., Pietilainen, O.P.H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jurgens, G., Glenthoj, B., Terenius, L., Hougaard, D.M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M.V., Nordentoft, M., Winkel, R. van, Kenis, G., Abramova, L.I., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L.A.L.M., Veldink, J., Berg, L. van den, Ingason, A., Muglia, P., Murray, R., Nothen, Markus, Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I.A., Hert, M. de, Rethelyi, J.M., Bitter, I., Jonsson, E.G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M.J., O'Donovan, M.C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R.A., Collier, D.A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., and Stefansson, K.
Abstract: Contains fulltext : 97739.pdf (publisher's version ) (Closed access), Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 x 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 x 10(-9)).
Published: 2011

18. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Author: Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., Collier, D., Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C.M., Lee, I. van der, Muglia, P., Poot, M., Staal, W.G., Jonge, M.V. de, Ophoff, R.A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K., and Collier, D.
Abstract: 01 september 2011, Item does not contain fulltext, The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism.
Published: 2011

19. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author: Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, St Clair, D M, Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, and St Clair, D M
Abstract: Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
Published: 2011

20. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author: Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, St Clair, D M, Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, and St Clair, D M
Abstract: Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
Published: 2011

21. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author: Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, St Clair, D M, Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, Thomas Folkmann, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, and St Clair, D M
Abstract: Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
Published: 2011

22. A Genome-Wide Association Study of Neuroticism in a Population-Based Sample

Author: Domschke, K, Calboli, FCF, Tozzi, F, Galwey, NW, Antoniades, A, Mooser, V, Preisig, M, Vollenweider, P, Waterworth, D, Waeber, G, Johnson, MR, Muglia, P, Balding, DJ, Domschke, K, Calboli, FCF, Tozzi, F, Galwey, NW, Antoniades, A, Mooser, V, Preisig, M, Vollenweider, P, Waterworth, D, Waeber, G, Johnson, MR, Muglia, P, and Balding, DJ
Abstract: Neuroticism is a moderately heritable personality trait considered to be a risk factor for developing major depression, anxiety disorders and dementia. We performed a genome-wide association study in 2,235 participants drawn from a population-based study of neuroticism, making this the largest association study for neuroticism to date. Neuroticism was measured by the Eysenck Personality Questionnaire. After Quality Control, we analysed 430,000 autosomal SNPs together with an additional 1.2 million SNPs imputed with high quality from the Hap Map CEU samples. We found a very small effect of population stratification, corrected using one principal component, and some cryptic kinship that required no correction. NKAIN2 showed suggestive evidence of association with neuroticism as a main effect (p < 10(-6)) and GPC6 showed suggestive evidence for interaction with age (p approximately = 10(-7)). We found support for one previously-reported association (PDE4D), but failed to replicate other recent reports. These results suggest common SNP variation does not strongly influence neuroticism. Our study was powered to detect almost all SNPs explaining at least 2% of heritability, and so our results effectively exclude the existence of loci having a major effect on neuroticism.
Published: 2010

23. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

Author: Anttila, V, Stefansson, H, Kallela, M, Todt, U, Terwindt, GM, Calafato, MS, Nyholt, DR, Dimas, AS, Freilinger, T, Mueller-Myhsok, B, Artto, V, Inouye, M, Alakurtti, K, Kaunisto, MA, Haemaelaeinen, E, de Vries, B, Stam, AH, Weller, CM, Heinze, A, Heinze-Kuhn, K, Goebel, I, Borck, G, Goebel, H, Steinberg, S, Wolf, C, Bjoernsson, A, Gudmundsson, G, Kirchmann, M, Hauge, A, Werge, T, Schoenen, J, Eriksson, JG, Hagen, K, Stovner, L, Wichmann, E, Meitinger, T, Alexander, M, Moebus, S, Schreiber, S, Aulchenko, YS, Breteler, MMB, Uitterlinden, AG, Hofman, A, van Duijn, CM, Tikka-Kleemola, P, Vepsaelaeinen, S, Lucae, S, Tozzi, F, Muglia, P, Barrett, J, Kaprio, J, Faerkkilae, M, Peltonen, L, Stefansson, K, Zwart, J-A, Ferrari, MD, Olesen, J, Daly, M, Wessman, M, van den Maagdenberg, AMJM, Dichgans, M, Kubisch, C, Dermitzakis, ET, Frants, RR, Palotie, A, Anttila, V, Stefansson, H, Kallela, M, Todt, U, Terwindt, GM, Calafato, MS, Nyholt, DR, Dimas, AS, Freilinger, T, Mueller-Myhsok, B, Artto, V, Inouye, M, Alakurtti, K, Kaunisto, MA, Haemaelaeinen, E, de Vries, B, Stam, AH, Weller, CM, Heinze, A, Heinze-Kuhn, K, Goebel, I, Borck, G, Goebel, H, Steinberg, S, Wolf, C, Bjoernsson, A, Gudmundsson, G, Kirchmann, M, Hauge, A, Werge, T, Schoenen, J, Eriksson, JG, Hagen, K, Stovner, L, Wichmann, E, Meitinger, T, Alexander, M, Moebus, S, Schreiber, S, Aulchenko, YS, Breteler, MMB, Uitterlinden, AG, Hofman, A, van Duijn, CM, Tikka-Kleemola, P, Vepsaelaeinen, S, Lucae, S, Tozzi, F, Muglia, P, Barrett, J, Kaprio, J, Faerkkilae, M, Peltonen, L, Stefansson, K, Zwart, J-A, Ferrari, MD, Olesen, J, Daly, M, Wessman, M, van den Maagdenberg, AMJM, Dichgans, M, Kubisch, C, Dermitzakis, ET, Frants, RR, and Palotie, A
Abstract: Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or molecular markers for migraine have been convincingly established. We identified the minor allele of rs1835740 on chromosome 8q22.1 to be associated with migraine (P = 5.38 × 10⁻⁹, odds ratio = 1.23, 95% CI 1.150-1.324) in a genome-wide association study of 2,731 migraine cases ascertained from three European headache clinics and 10,747 population-matched controls. The association was replicated in 3,202 cases and 40,062 controls for an overall meta-analysis P value of 1.69 × 10⁻¹¹ (odds ratio = 1.18, 95% CI 1.127-1.244). rs1835740 is located between MTDH (astrocyte elevated gene 1, also known as AEG-1) and PGCP (encoding plasma glutamate carboxypeptidase). In an expression quantitative trait study in lymphoblastoid cell lines, transcript levels of the MTDH were found to have a significant correlation to rs1835740 (P = 3.96 × 10⁻⁵, permuted threshold for genome-wide significance 7.7 × 10⁻⁵. To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine.
Published: 2010

24. Common variants conferring risk of schizophrenia.

Author: Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., Collier, D.A., Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., and Collier, D.A.
Abstract: Contains fulltext : 81575.pdf (publisher's version ) (Closed access), Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Published: 2009

25. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Author: Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., Berg, L.H. van den, Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., and Berg, L.H. van den
Abstract: Contains fulltext : 80631.pdf (publisher's version ) (Closed access), We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
Published: 2009

26. Common variants conferring risk of schizophrenia.

Author: Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., Collier, D.A., Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., and Collier, D.A.
Abstract: Contains fulltext : 81575.pdf (publisher's version ) (Closed access), Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Published: 2009

27. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Author: Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., Berg, L.H. van den, Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., and Berg, L.H. van den
Abstract: Contains fulltext : 80631.pdf (publisher's version ) (Closed access), We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
Published: 2009

28. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Author: Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., Berg, L.H. van den, Es, M.A. van, Veldink, J.H., Saris, C.G.J., Blauw, H.M., Vught, P.W. van, Birve, A., Lemmens, R., Schelhaas, H.J., Groen, E.J., Huisman, M.H., Kooi, A.J. van der, Visser, M. de, Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M.J., Doormaal, P.T. van, Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A.G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A.C., Glass, J.D., Purcell, S., Cichon, S., Nothen, Markus, Wichmann, H.E., Schreiber, S., Vermeulen, S., Kiemeney, L.A.L.M., Wokke, J.H.J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R.J., Meininger, V., Melki, J., Leigh, P.N., Shaw, C.E., Landers, J.E., Al-Chalabi, A., Brown Jr., R.H., Robberecht, W., Andersen, P.M., Ophoff, R.A., and Berg, L.H. van den
Abstract: Contains fulltext : 80631.pdf (publisher's version ) (Closed access), We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
Published: 2009

29. Common variants conferring risk of schizophrenia.

Author: Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., Collier, D.A., Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., Werge, T., Pietilainen, O.P.H., Mors, O., Mortensen, P.B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., Lonnqvist, J., Paunio, T., Borglum, A.D., Hartmann, A., Fink-Jensen, A., Nordentoft, M., Hougaard, D., Norgaard-Pedersen, B., Bottcher, Y., Olesen, J., Breuer, R., Moller, H.J., Giegling, I., Rasmussen, H.B., Timm, S., Mattheisen, M., Bitter, I., Rethelyi, J.M., Magnusdottir, B.B., Sigmundsson, T., Olason, P., Masson, G., Gulcher, J.R., Haraldsson, M., Fossdal, R., Thorgeirsson, T.E., Thorsteinsdottir, U., Ruggeri, M., Tosato, S., Franke, B., Strengman, E., Kiemeney, L.A.L.M., Melle, I., Djurovic, S., Abramova, L.I., Kaleda, V., Sanjuan, J., Frutos, R. de, Bramon, E., Vassos, E., Fraser, G., Ettinger, U., Picchioni, M., Walker, N., Toulopoulou, T., Need, A.C., Ge, D., Yoon, J.L., Shianna, K.V., Freimer, N.B., Cantor, R.M., Murray, R., Kong, A., Golimbet, V., Carracedo, A., Arango, C., Costas, J., Jonsson, E.G., Terenius, L., Agartz, I., Petursson, H., Nothen, Markus, Rietschel, M., Matthews, P.M., Muglia, P., Peltonen, L., St Clair, D., Goldstein, D.B, Stefansson, K., and Collier, D.A.
Abstract: Contains fulltext : 81575.pdf (publisher's version ) (Closed access), Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Published: 2009

30. Large recurrent microdeletions associated with schizophrenia.

Author: Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P.H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A, Halldorsson, B.V., Gudbjartsson, D.F., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Muhleisen, T.W., Wang, A.G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, B., Franke, B., Sabatti, C., Freimer, N.B., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Andreassen, O.A., Ophoff, R.A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D.B, Nothen, Markus, Peltonen, L., Collier, D.A., St Clair, D., Stefansson, K., Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P.H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A, Halldorsson, B.V., Gudbjartsson, D.F., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Muhleisen, T.W., Wang, A.G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, B., Franke, B., Sabatti, C., Freimer, N.B., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Andreassen, O.A., Ophoff, R.A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D.B, Nothen, Markus, Peltonen, L., Collier, D.A., St Clair, D., and Stefansson, K.
Abstract: Contains fulltext : 69527.pdf (publisher's version ) (Closed access)
Published: 2008

31. Large recurrent microdeletions associated with schizophrenia.

Author: Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P.H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A, Halldorsson, B.V., Gudbjartsson, D.F., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Muhleisen, T.W., Wang, A.G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, B., Franke, B., Sabatti, C., Freimer, N.B., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Andreassen, O.A., Ophoff, R.A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D.B, Nothen, Markus, Peltonen, L., Collier, D.A., St Clair, D., Stefansson, K., Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P.H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A, Halldorsson, B.V., Gudbjartsson, D.F., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Muhleisen, T.W., Wang, A.G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, B., Franke, B., Sabatti, C., Freimer, N.B., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Andreassen, O.A., Ophoff, R.A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D.B, Nothen, Markus, Peltonen, L., Collier, D.A., St Clair, D., and Stefansson, K.
Abstract: Contains fulltext : 69527.pdf (publisher's version ) (Closed access)
Published: 2008

32. Large recurrent microdeletions associated with schizophrenia

Author: Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A., Halldorsson, B.V., Gudbjartsson, D., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di, Forti M., Wang, August Gabriel, Ullum, H., Olesen, Jes, Werge, Thomas, Wang, August G, Ullum, Henrik, Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A., Halldorsson, B.V., Gudbjartsson, D., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di, Forti M., Wang, August Gabriel, Ullum, H., Olesen, Jes, Werge, Thomas, Wang, August G, and Ullum, Henrik
Abstract: Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
Published: 2008

33. Large recurrent microdeletions associated with schizophrenia

Author: Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A., Halldorsson, B.V., Gudbjartsson, D., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di, Forti M., Wang, August Gabriel, Ullum, H., Olesen, Jes, Werge, Thomas, Wang, August G, Ullum, Henrik, Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A., Halldorsson, B.V., Gudbjartsson, D., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Moller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di, Forti M., Wang, August Gabriel, Ullum, H., Olesen, Jes, Werge, Thomas, Wang, August G, and Ullum, Henrik
Abstract: Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
Published: 2008

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33 results on '"Muglia P"'

1. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

2. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

3. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

4. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

5. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

6. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

7. Identification of pathways for bipolar disorder: A meta-analysis

8. A common biological basis of obesity and nicotine addiction

9. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

10. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

11. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

12. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

13. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

14. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

15. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

16. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

17. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

18. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

19. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

20. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

21. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

22. A Genome-Wide Association Study of Neuroticism in a Population-Based Sample

23. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

24. Common variants conferring risk of schizophrenia.

25. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

26. Common variants conferring risk of schizophrenia.

27. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

28. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

29. Common variants conferring risk of schizophrenia.

30. Large recurrent microdeletions associated with schizophrenia.

31. Large recurrent microdeletions associated with schizophrenia.

32. Large recurrent microdeletions associated with schizophrenia

33. Large recurrent microdeletions associated with schizophrenia

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33 results on '"Muglia P"'

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