Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Open accessAbstract
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.
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The 7p15.2 locus is among the genes known so far to be responsible for the development of the uterus and placenta.
“This place is among the genes known so far responsible for the development of the uterus and placenta [182].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [182]
The first GWAS study on endometriosis was published between 2010 and 2011, comprising two papers on the Japanese population and one study of European women.
“The first GWAS study on endometriosis was published between 2010 and 2011—two papers on the Japanese population and one study of European women [180,181,182].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [182]
GWA studies have identified 11 independent SNPs for endometriosis.
“Genome-wide association (GWA) studies have identified 11 independent single-nucleotide polymorphisms (SNPs) for endometriosis.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [7]
All cases in the QIMRHCS, OX, deCODE and LEUVEN studies have surgically confirmed endometriosis and disease stage from surgical records using the revised American Fertility Society classification system.
“All cases in the QIMRHCS, OX, deCODE and LEUVEN studies have surgically confirmed endometriosis and disease stage from surgical records using the revised American Fertility Society (rAFS) classification system16; women were grouped into Grade A (rAFS I or II disease or some ovarian disease with a few adhesions), Grade B (rAFS III or IV disease) or unknown stage as described previously7.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [7]
The majority of the identified SNP loci showed larger effects in the Grade B analysis than in the analysis of all endometriosis.
“The majority of the identified SNP loci showed larger effects in the Grade B analysis in comparison with those based on analysis of all endometriosis, supporting previous findings of greater genetic loading in moderate-to-severe endometriosis7857.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [7]
Association between rs1250248, which is in very high LD (r2=0.95) with the lead SNP rs1250241 at the FN1 locus, was first reported by the earlier European GWA study led by us, but was not replicated in an independent sample.
“Association between rs1250248, which is in very high LD (r2=0.95) with our lead SNP rs1250241 at this locus, was first reported by the earlier European GWA study led by us, but was not replicated in an independent sample7.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [7]
The genetic loading (liability) of moderate-to-severe (Grade B) endometriosis is greater than that of minimal or mild (Grade A) endometriosis.
“Considering the relatively greater genetic loading (liability) of moderate-to-severe (Grade B) endometriosis (rAFS stage III or IV disease) compared to minimal or mild (Grade A) endometriosis (rAFS stage I or II disease or limited ovarian involvement)7857”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [7]
The ENDOGENE study also replicated evidence for association near the WNT4 gene on 1p36.12 previously reported in the Japanese study.
“The ENDOGENE study also replicated evidence for association near the WNT4 gene on 1p36.12 previously reported in the Japanese study.8,9”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [8]
Analysis of the International ENDO-GENE data provided independent evidence for a genetic contribution to disease risk supporting results from earlier family-based studies.
“Analysis of the International ENDO-GENE data provided independent evidence for a genetic contribution to disease risk supporting results from earlier family-based studies.8,[43][44][45]”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [8]
The International ENDOGENE study in a European Caucasian sample from Australia (2270 cases and 1870 controls) and the United Kingdom (924 cases and 5190 controls) identified significant association in an intergenic region on 7p15.2.
“The International ENDOGENE study in a European Caucasian sample from Australia (2270 cases and 1870 controls) and the Unites Kingdom (924 cases and 5190 controls) 8 identified significant association in an intergenic region on 7p15.2.”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [8]
The results also demonstrated stronger genetic loading of moderate to severe (stage B) endometriosis (rAFS stage III or IV disease) compared to minimal (stage A) endometriosis (rAFS stage I or II disease).
“The results also demonstrated stronger genetic loading of moderate to severe (stage B) endometriosis (rAFS stage III or IV disease) compared to minimal (stage A) endometriosis (rAFS stage I or II disease) 8 .”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [8]
Advances in genetics and associated technologies have moved the endometriosis field forward significantly over the past 3 years.
“In particular, some of the advances in genetics and associated technologies have moved the field forward significantly over the past 3 years.8,9”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [8]
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Self-citation
- Authors
- Painter, J. N., Anderson, C. A., Nyholt, D. R., Macgregor, S., Lin, J., Lee, S. H., Lambert, A., Zhao, Z. Z., Roseman, F., Guo, Q., Gordon, S. D., Wallace, L., Henders, A. K., Visscher, P. M., Kraft, P., Martin, N. G., Morris, A. P., Treloar, S. A., Kennedy, S. H., Missmer, S. A., Montgomery, G. W., & Zondervan, K. T.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Centre for Human Genetics (GB)
- John Radcliffe Hospital (GB)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- The University of Queensland (AU)
- Corresponding author
- Painter, Jodie N
- Zondervan, Krina T
- ORCID
- Venue
- Nature Genetics
- Published
- 2010-12-12
- Volume
- 43
- Issue
- 1
- Pages
- 51-54
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3019124
- OpenAlex
- W2004442355
- Cited by
- 308
- References
- 47
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 11 · 2023: 11 · 2022: 11 · 2021: 19 · 2020: 14 · 2019: 19 · 2018: 19 · 2017: 23 · 2016: 20 · 2015: 30 · 2014: 28 · 2013: 29 · 2012: 37
- FWCI
- 33.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- Wellcome Trust (085475, 085235, 081682, 064890, WT91745/Z/10/Z, 084766, WT085235/Z/08/Z, WT084766/Z/08/Z, 076113)
- National Institutes of Health (5r01ca049449-18, 5p01dk070756-05)
- National Cancer Institute (P01CA087969, R01‐CA049449, U01CA098233, R01CA050385, R01CA067262)
- National Institute of Diabetes and Digestive and Kidney Diseases (P01-DK-070756)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD057210, R01HD052473)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, genetic susceptibility, polygenic risk prediction, NFE2L3, HOXA10, intergenic regions, disease severity, pelvic pain, subfertility
- MeSH terms
- Homeobox A10 Proteins, Australia, Chromosomes, Human, Pair 15, Endometriosis, Female, United Kingdom, Humans, Risk Factors, United States, Cohort Studies, Genome, Human, Odds Ratio, Homeodomain Proteins, Genetic Predisposition to Disease, Basic-Leucine Zipper Transcription Factors, Genome-Wide Association Study, Genetic Loci
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