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

Valgerdur Steinthorsdottir (), Gudmar Thorleifsson, Kristrun Aradottir, Bjarke Feenstra, Asgeir Sigurdsson, Lilja Stefansdottir, Anna M. Kristinsdottir, Florian Zink, Gisli H. Halldorsson, Nete Munk Nielsen, Frank Geller, Mads Melbye, Daniel F. Gudbjartsson, Reynir T. Geirsson, Unnur Thorsteinsdottir and Kari Stefansson ()
Additional contact information
Valgerdur Steinthorsdottir: deCODE Genetics/Amgen
Gudmar Thorleifsson: deCODE Genetics/Amgen
Kristrun Aradottir: Landspitali University Hospital
Bjarke Feenstra: Statens Serum Institut
Asgeir Sigurdsson: deCODE Genetics/Amgen
Lilja Stefansdottir: deCODE Genetics/Amgen
Anna M. Kristinsdottir: deCODE Genetics/Amgen
Florian Zink: deCODE Genetics/Amgen
Gisli H. Halldorsson: deCODE Genetics/Amgen
Nete Munk Nielsen: Statens Serum Institut
Frank Geller: Statens Serum Institut
Mads Melbye: Statens Serum Institut
Daniel F. Gudbjartsson: deCODE Genetics/Amgen
Reynir T. Geirsson: Landspitali University Hospital
Unnur Thorsteinsdottir: deCODE Genetics/Amgen
Kari Stefansson: deCODE Genetics/Amgen

Nature Communications, 2016, vol. 7, issue 1, 1-6

Abstract: 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.

Date: 2016
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms12350 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12350

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms12350

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().