Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.

doi:10.1038/ncomms12350

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Article

Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.

Nature communications - 25 Jul 2016

Steinthorsdottir Valgerdur, Thorleifsson 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

Abstract excerpt

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)),...

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PMID: 27453397
DOI: 10.1038/ncomms12350
PMCID: PMC4962463

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