Nature Communications (May 2017)

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

  • Yadav Sapkota,
  • Valgerdur Steinthorsdottir,
  • Andrew P. Morris,
  • Amelie Fassbender,
  • Nilufer Rahmioglu,
  • Immaculata De Vivo,
  • Julie E. Buring,
  • Futao Zhang,
  • Todd L. Edwards,
  • Sarah Jones,
  • Dorien O,
  • Daniëlle Peterse,
  • Kathryn M. Rexrode,
  • Paul M. Ridker,
  • Andrew J. Schork,
  • Stuart MacGregor,
  • Nicholas G. Martin,
  • Christian M. Becker,
  • Sosuke Adachi,
  • Kosuke Yoshihara,
  • Takayuki Enomoto,
  • Atsushi Takahashi,
  • Yoichiro Kamatani,
  • Koichi Matsuda,
  • Michiaki Kubo,
  • Gudmar Thorleifsson,
  • Reynir T. Geirsson,
  • Unnur Thorsteinsdottir,
  • Leanne M. Wallace,
  • iPSYCH-SSI-Broad Group,
  • Jian Yang,
  • Digna R. Velez Edwards,
  • Mette Nyegaard,
  • Siew-Kee Low,
  • Krina T. Zondervan,
  • Stacey A. Missmer,
  • Thomas D'Hooghe,
  • Grant W. Montgomery,
  • Daniel I. Chasman,
  • Kari Stefansson,
  • Joyce Y. Tung,
  • Dale R. Nyholt

DOI
https://doi.org/10.1038/ncomms15539
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 12

Abstract

Read online

Endometriosis is a major cause of infertility. Molecular mechanisms underlying the disease involve genetic and environmental risk factors. In a meta-analysis of eleven GWA studies, Sapkota and colleagues identify five novel risk loci, implicating steroid sex hormone pathways in the pathogenesis.