Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

Jodie N. Painter, Carl A. Anderson, Dale R. Nyholt, Stuart MacGregor, Jianghai Lin, Sang Hong Lee, Ann Lambert, Zhen Z. Zhao, Fenella Roseman, Qun Guo, Scott D. Gordon, Leanne Wallace, Anjali K. Henders, Peter M. Visscher, Peter Kraft, Nicholas G. Martin, Andrew P. Morris, Susan A. Treloar, Stephen H. Kennedy, Stacey A. MissmerGrant W. Montgomery, Krina T. Zondervan

Research output: Contribution to journalArticlepeer-review

261 Citations (Scopus)


Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (P = 2.6 ×- 10-7, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 ×- 10 -9, OR = 1.38, 95% CI 1.24-1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 ×- 10 -3, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 ×- 10-9 (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10.

Original languageEnglish
Pages (from-to)51-54
Number of pages4
JournalNature Genetics
Issue number1
Publication statusPublished or Issued - Jan 2011
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Cite this