期刊
NATURE GENETICS
卷 43, 期 1, 页码 51-U69出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.731
关键词
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资金
- Endometriosis Associations
- National Health and Medical Research Council (NHMRC) of Australia [241944, 339462, 389927, 389875, 389891, 389892, 389938, 443036, 442915, 442981, 496610, 496739, 552485, 552498]
- Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC)
- Cerylid Biosciences (Melbourne)
- NHMRC [339462, 442915, 613674, 496674, 613705, 339446, 619667]
- ARC [FT0991022]
- Wellcome Trust [WT084766/Z/08/Z, 076113, 085475, WT91745/Z/10/Z, WT085235/Z/08/Z]
- Department of Health NIHR Biomedical Research Centres
- National Institutes of Health (NIH) of the United States [P01 CA087969, R01 CA049449, UO1 CA098233, P01 DK070756, R01 CA050385, R01 CA067262, R01 HD052473, R01 HD057210]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [R01HD057210] Funding Source: NIH RePORTER
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD052473] Funding Source: NIH RePORTER
- NATIONAL CANCER INSTITUTE [R01CA049449, R01CA067262, R01CA050385, U01CA098233, P01CA087969] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [P01DK070756] Funding Source: NIH RePORTER
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 x 10(-7), odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 x 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 x 10(-3), OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 x 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.
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