Article
A polygenic burden of rare disruptive mutations in schizophrenia.
Nature - 13 Feb 2014
Purcell Shaun M, Moran Jennifer L, Fromer Menachem, Ruderfer Douglas, Solovieff Nadia, Roussos Panos, O'Dushlaine Colm, Chambert Kimberly, Bergen Sarah E, Kähler Anna, Duncan Laramie, Stahl Eli, Genovese Giulio, Fernández Esperanza, Collins Mark O, Komiyama Noboru H, Choudhary Jyoti S, Magnusson Patrik K E, Banks Eric, Shakir Khalid, Garimella Kiran, Fennell Tim, DePristo Mark, Grant Seth G N, Haggarty Stephen J, Gabriel Stacey, Scolnick Edward M, Lander Eric S, Hultman Christina M, Sullivan Patrick F, McCarroll Steven A, Sklar Pamela
Abstract excerpt
Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium...
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