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

Author

Listed:
  • 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
    University of Copenhagen
    Stanford University School of Medicine)

  • Daniel F. Gudbjartsson

    (deCODE Genetics/Amgen
    School of Engineering and Natural Sciences, University of Iceland)

  • Reynir T. Geirsson

    (Landspitali University Hospital)

  • Unnur Thorsteinsdottir

    (deCODE Genetics/Amgen
    Faculty of Medicine, School of Health Sciences, University of Iceland)

  • Kari Stefansson

    (deCODE Genetics/Amgen
    Faculty of Medicine, School of Health Sciences, University of Iceland)

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.

Suggested Citation

  • Valgerdur Steinthorsdottir & Gudmar Thorleifsson & Kristrun Aradottir & Bjarke Feenstra & Asgeir Sigurdsson & Lilja Stefansdottir & Anna M. Kristinsdottir & Florian Zink & Gisli H. Halldorsson & Nete , 2016. "Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis," Nature Communications, Nature, vol. 7(1), pages 1-6, November.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12350
    DOI: 10.1038/ncomms12350
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