Authors
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 Missmer, Grant W Montgomery, Krina T Zondervan
Publication date
2011/1
Journal
Nature genetics
Volume
43
Issue
1
Pages
51-54
Publisher
Nature Publishing Group
Description
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 …
Total citations
Scholar articles
JN Painter, CA Anderson, DR Nyholt, S Macgregor… - Nature genetics, 2011