Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
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DOI：
10.1038/ng.2742
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发表时间：
2013-10
期刊：
影响因子：
30.8
通讯作者：
Sullivan, Patrick F.
中科院分区：
文献类型：
--
作者：
Ripke, Stephan;O'Dushlaine, Colm;Chambert, Kimberly;Moran, Jennifer L.;Kaehler, Anna K.;Akterin, Susanne;Bergen, Sarah E.;Collins, Ann L.;Crowley, James J.;Fromer, Menachem;Kim, Yunjung;Lee, Sang Hong;Magnusson, Patrik K. E.;Sanchez, Nick;Stahl, Eli A.;Williams, Stephanie;Wray, Naomi R.;Xia, Kai;Bettella, Francesco;Borglum, Anders D.;Bulik-Sullivan, Brendan K.;Cormican, Paul;Craddock, Nick;de Leeuw, Christiaan;Durmishi, Naser;Gill, Michael;Golimbet, Vera;Hamshere, Marian L.;Holmans, Peter;Hougaard, David M.;Kendler, Kenneth S.;Lin, Kuang;Morris, Derek W.;Mors, Ole;Mortensen, Preben B.;Neale, Benjamin M.;O'Neill, Francis A.;Owen, Michael J.;Milovancevic, Milica Pejovic;Posthuma, Danielle;Powell, John;Richards, Alexander L.;Riley, Brien P.;Ruderfer, Douglas;Rujescu, Dan;Sigurdsson, Engilbert;Silagadze, Teimuraz;Smit, August B.;Stefansson, Hreinn;Steinberg, Stacy;Suvisaari, Jaana;Tosato, Sarah;Verhage, Matthijs;Walters, James T.;Bramon, Elvira;Corvin, Aiden P.;O'Donovan, Michael C.;Stefansson, Kari;Scolnick, Edward;Purcell, Shaun;McCarroll, Steven A.;Sklar, Pamela;Hultman, Christina M.;Sullivan, Patrick F.
精神分裂症是一种遗传性疾病，对公众健康有重大影响。我们对精神分裂症进行了多阶段全基因组关联研究（GWAS），从瑞典国家样本开始（5，001例病例，6，243例对照），随后对既往精神分裂症GWAS进行荟萃分析（8，832例，12，067例对照），最后通过在独立样本的168个基因组区域中复制SNP（7，413例，19，762例对照，581例三重）。总共有22个区域符合全基因组意义（14个是新的，1个以前与双相情感障碍有关）。这些结果强烈暗示钙信号传导在精神分裂症的病因学中，并且包括蛋白质产物相互作用的CACNA1C和CACNB2的全基因组显著结果。我们估计有18，300个独立的和主要常见的SNP与精神分裂症的风险有关，这些SNP共同解释了其大部分遗传性。常见的遗传变异在精神分裂症的病因学中起着重要作用，更大规模的研究将使人们更详细地了解这种毁灭性的疾病。
Schizophrenia is a heritable disorder with substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases, 6,243 controls) followed by meta-analysis with prior schizophrenia GWAS (8,832 cases, 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls, and 581 trios). In total, 22 regions met genome-wide significance (14 novel and one previously implicated in bipolar disorder). The results strongly implicate calcium signaling in the etiology of schizophrenia, and include genome-wide significant results for CACNA1C and CACNB2 whose protein products interact. We estimate that ∼8,300 independent and predominantly common SNPs contribute to risk for schizophrenia and that these collectively account for most of its heritability. Common genetic variation plays an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this devastating disorder.
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影响因子：
10.5
作者：
Cabili, Moran N.;Trapnell, Cole;Rinn, John L.
通讯作者：
Rinn, John L.
影响因子：
30.8
作者：
Girard, Simon L.;Gauthier, Julie;Rouleau, Guy A.
通讯作者：
Rouleau, Guy A.
影响因子：
11
作者：
Bergen, S. E.;O'Dushlaine, C. T.;Ripke, S.;Lee, P. H.;Ruderfer, D. M.;Akterin, S.;Moran, J. L.;Chambert, K. D.;Handsaker, R. E.;Backlund, L.;Osby, U.;McCarroll, S.;Landen, M.;Scolnick, E. M.;Magnusson, P. K. E.;Lichtenstein, P.;Hultman, C. M.;Purcell, S. M.;Sklar, P.;Sullivan, P. F.
通讯作者：
Sullivan, P. F.
影响因子：
30.8
作者：
Ferreira, Manuel A. R.;O'Donovan, Michael C.;Meng, Yan A.;Jones, Ian R.;Ruderfer, Douglas M.;Jones, Lisa;Fan, Jinbo;Kirov, George;Perlis, Roy H.;Green, Elaine K.;Smoller, Jordan W.;Grozeva, Detelina;Stone, Jennifer;Nikolov, Ivan;Chambert, Kimberly;Hamshere, Marian L.;Nimgaonkar, Vishwajit L.;Moskvina, Valentina;Thase, Michael E.;Caesar, Sian;Sachs, Gary S.;Franklin, Jennifer;Gordon-Smith, Katherine;Ardlie, Kristin G.;Gabriel, Stacey B.;Fraser, Christine;Blumenstiel, Brendan;Defelice, Matthew;Breen, Gerome;Gill, Michael;Morris, Derek W.;Elkin, Amanda;Muir, Walter J.;McGhee, Kevin A.;Williamson, Richard;MacIntyre, Donald J.;MacLean, Alan W.;Clair, David St;Robinson, Michelle;Van Beck, Margaret;Pereira, Ana C. P.;Kandaswamy, Radhika;McQuillin, Andrew;Collier, David A.;Bass, Nicholas J.;Young, Allan H.;Lawrence, Jacob;Ferrier, I. Nicol;Anjorin, Adebayo;Farmer, Anne;Curtis, David;Scolnick, Edward M.;McGuffin, Peter;Daly, Mark J.;Corvin, Aiden P.;Holmans, Peter A.;Blackwood, Douglas H.;Gurling, Hugh M.;Owen, Michael J.;Purcell, Shaun M.;Sklar, Pamela;Craddock, Nick
通讯作者：
Craddock, Nick
影响因子：
10.6
作者：
Bramon, Elvira;Pirinen, Matti;Strange, Amy;Lin, Kuang;Freeman, Colin;Bellenguez, Celine;Su, Zhan;Band, Gavin;Pearson, Richard;Vukcevic, Damjan;Langford, Cordelia;Deloukas, Panos;Hunt, Sarah;Gray, Emma;Dronov, Serge;Potter, Simon C.;Tashakkori-Ghanbaria, Avazeh;Edkins, Sarah;Bumpstead, Suzannah J.;Arranz, Maria J.;Bakker, Steven;Bender, Stephan;Bruggeman, Richard;Cahn, Wiepke;Chandler, David;Collier, David A.;Crespo-Facorro, Benedicto;Dazzan, Paola;de Haan, Lieuwe;di Forti, Marta;Dragovic, Milan;Giegling, Ina;Hall, Jeremy;Iyegbe, Conrad;Jablensky, Assen;Kahn, Rene S.;Kalaydjieva, Luba;Kravariti, Eugenia;Lawrie, Stephen;Lins-Zen, Don H.;Mata, Ignacio;McDonald, Colm;McIntosh, Andrew;Myin-Germeys, Inez;Ophoff, Roel A.;Pariante, Carmine M.;Paunio, Tiina;Picchioni, Marco;Ripke, Stephan;Rujescu, Dan;Sauer, Heinrich;Shaikh, Madiha;Sussmann, Jessika;Suvisaari, Jaana;Tosato, Sarah;Toulopoulou, Timothea;Van Os, Jim;Walshe, Muriel;Weisbrod, Matthias;Whalley, Heather;Wiersma, Durk;Blackwell, Jenefer M.;Brown, Matthew A.;Casas, Juan P.;Corvin, Aiden;Duncanson, Audrey;Jankowski, Janusz A. Z.;Markus, Hugh S.;Mathew, Christopher G.;Palmer, Colin N. A.;Plomin, Robert;Rautanen, Anna;Sawcer, Stephen J.;Trembath, Richard C.;Wood, Nicholas W.;Barroso, Ines;Peltonen, Leena;Lewis, Cathryn M.;Murray, Robin M.;Donnelly, Peter;Powell, John;Spencer, Chris C. A.
通讯作者：
Spencer, Chris C. A.