Article
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.
Scientific reports - 12 Sept 2017
Sapkota Yadav, Vivo Immaculata De, Steinthorsdottir Valgerdur, Fassbender Amelie, Bowdler Lisa, Buring Julie E, Edwards Todd L, Jones Sarah, O Dorien, Peterse Daniëlle, Rexrode Kathryn M, Ridker Paul M, Schork Andrew J, Thorleifsson Gudmar, Wallace Leanne M, Kraft Peter, Morris Andrew P, Nyholt Dale R, Edwards Digna R Velez, Nyegaard Mette, D'Hooghe Thomas, Chasman Daniel I, Stefansson Kari, Missmer Stacey A, Montgomery Grant W
Abstract excerpt
Genome-wide association (GWA) studies have identified 19 independent common risk loci for endometriosis. Most of the GWA variants are non-coding and the genes responsible for the association signals have not been identified. Herein, we aimed to assess the potential role of protein-modifying variants in endometriosis using exome-array genotyping in 7164 cases and 21005 controls, and a replication set of 1840 cases...
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