Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.
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Authors
Steinthorsdottir, ValgerdurThorleifsson, Gudmar
Aradottir, Kristrun
Feenstra, Bjarke
Sigurdsson, Asgeir
Stefansdottir, Lilja
Kristinsdottir, Anna M
Zink, Florian
Halldorsson, Gisli H
Munk Nielsen, Nete
Geller, Frank
Melbye, Mads
Gudbjartsson, Daniel F
Geirsson, Reynir T
Thorsteinsdottir, Unnur
Stefansson, Kari
Issue Date
2016
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Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis. 2016, 7:12350 Nat CommunAbstract
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.Description
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http://dx.doi.org/ 10.1038/ncomms12350Rights
Archived with thanks to Nature communicationsae974a485f413a2113503eed53cd6c53
10.1038/ncomms12350
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