Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 27453397.
- Also identified by DOI 10.1038/ncomms12350 and PMC identifier 4962463.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Endometriosis
- Genetic Predisposition to Disease
- Lipoproteins, HDL
- Neoplasm Proteins
- Polymorphism, Single Nucleotide
- Vascular Endothelial Growth Factor Receptor-2