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- W2489788488 abstract "We conducted a genome-wide association scan (GWAS) of endometriosis using 25.5 million sequence variants detected through whole-genome sequencing (WGS) of 8,453 Icelanders and imputed into 1,840 cases and 129,016 control women, followed by testing of associated variants in Danish samples. Here we report the discovery of a new endometriosis susceptibility locus on 4q12 (rs17773813[G], OR=1.28; P=3.8 × 10(-11)), upstream of KDR encoding vascular endothelial growth factor receptor 2 (VEGFR2). The variant correlates with disease severity (P=0.0046) when moderate/severe endometriosis cases are tested against minimal/mild cases. We further report association of rs519664[T] in TTC39B on 9p22 with endometriosis (P=4.8 × 10(-10); OR=1.29). The involvement of KDR in endometriosis risk highlights the importance of the VEGF pathway in the pathogenesis of the disease." @default.
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- W2489788488 date "2016-07-25" @default.
- W2489788488 modified "2023-10-10" @default.
- W2489788488 title "Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis" @default.
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- W2489788488 doi "https://doi.org/10.1038/ncomms12350" @default.
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