The search for genes contributing to endometriosis risk
Open accessAbstract
BACKGROUND: Genetic variation contributes to the risk of developing endometriosis. This review summarizes gene mapping studies in endometriosis and the prospects of finding gene pathways contributing to disease using the latest genome-wide strategies. METHODS: To identify candidate-gene association studies of endometriosis, a systematic literature search was conducted in PubMed of publications up to 1 April 2008, using the search terms 'endometriosis' plus 'allele' or 'polymorphism' or 'gene'. Papers included were those with information on both case and control selection, showed allelic and/or genotypic results for named germ-line polymorphisms and were published in the English language. RESULTS: Genetic variants in 76 genes have been examined for association, but none shows convincing evidence of replication in multiple studies. There is evidence for genetic linkage to chromosomes 7 and 10, but the genes (or variants) in these regions contributing to disease risk have yet to be identified. Genome-wide association is a powerful method that has been successful in locating genetic variants contributing to a range of common diseases. Several groups are planning these studies in endometriosis. For this to be successful, the endometriosis research community must work together to genotype sufficient cases, using clearly defined disease classifications, and conduct the necessary replication studies in several thousands of cases and controls. CONCLUSIONS: Genes with convincing evidence for association with endometriosis are likely to be identified in large genome-wide studies. This will provide a starting point for functional and biological studies to develop better diagnosis and treatment for this debilitating disease.
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Despite some evidence that endometriosis may be an inheritable disease, no germ-line or causative somatic mutations have been reported to date.
“Despite some evidence that endometriosis may be an inheritable disease, no germ-line or causative somatic mutations have been reported to date (Montgomery et al., 2008;Rahmioglu et al., 2012).”
From Endometriosis and nuclear receptors (2019) · cites this paper as Montgomery et al., 2008
The Genetic contributions to endometriosis section reports evidence of inherited risk, and the Candidate gene studies section says no gene variant was clearly associated with increased risk. The review does not establish the broader claim that no causative somatic mutations had been reported. Page numbers were not available in our copy. (LLM, conf=0.85)
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Treloar, S. A., Zhao, Z., Le, L., Zondervan, K. T., Martin, N. G., Kennedy, S. M., Nyholt, D. R., & Montgomery, G. W. (2007) · Molecular Human Reproduction · doi:10.1093/molehr/gam023 · Cited by 40 · see citing works
Self-citationWeight-Adjusted Genome Scan Analysis for Mapping Quantitative Trait Loci for Menarchal Age
Rothenbühler, A., Fradin, D. D., Heath, S. C., Lefèvre, H., Bouvattier, C. M., Lathrop, M., & Bougneres, P. F. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0150 · Cited by 38 · see citing works
Association between PTPN22 and endometriosis
Ammendola, M., Bottini, N., Pietropolli, A., Saccucci, P., & Gloria‐Bottini, F. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2007.04.008 · Cited by 34 · see citing works
Zhao, Z., Nyholt, D. R., Le, L. H., Thomas, S., Engwerda, C. R., Randall, L. M., Treloar, S. A., & Montgomery, G. W. (2007) · Human Reproduction · doi:10.1093/humrep/dem182 · Cited by 29 · see citing works
Self-citationIvashchenko, T. E., Shved, N. I., Na, K., Aĭlamazian, E. K., & Баранов, В. С. (2003) · PubMed · Cited by 27 · see citing works
The prevalence of endometriosis among African-American and African-indigenous women.
Kyama, M. C., D'Hooghe, T. M., Debrock, S., M’Imunya, J. M., Chai, D. C., & Mwenda, J. M. (2004) · PubMed · Cited by 24 · see citing works
Ding, Y., Chen, Z., Lin, R., Wang, X.-F., Ding, J., Ai, X.-Z., & Wen, H. (2004) · PubMed · Cited by 17 · see citing works
Zhao, Z., Pollock, P. M., Thomas, S. A., Treloar, S. A., Nyholt, D. R., & Montgomery, G. W. (2008) · Human Reproduction · doi:10.1093/humrep/den035 · Cited by 16 · see citing works
Self-citationPeng, D., He, Y., Qiu, L., et al. (2003) · PubMed · Cited by 12 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
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Pearce, C. L., Templeman, C., Rossing, M. A., Lee, A., Near, A. M., Webb, P. M., Nagle, C. M., Doherty, J. A., Cushing-Haugen, K. L., Wicklund, K. G., et al. (2012) · The Lancet Oncology · doi:10.1016/s1470-2045(11)70404-1 · Cited by 939 · see citing works
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Priorities for Endometriosis Research: Recommendations From an International Consensus Workshop
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Self-citationGenome-wide association meta-analysis identifies new endometriosis risk loci
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Insights into assessing the genetics of endometriosis
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Epidemiology of subtle, typical, cystic, and deep endometriosis: a systematic review
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- Authors
- Montgomery, G. W., Nyholt, D. R., Zhao, Z. Z., Treloar, S. A., Painter, J. N., Missmer, S. A., Kennedy, S. H., & Zondervan, K. T.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Brigham and Women's Hospital (US)
- University of Oxford (GB)
- Centre for Human Genetics (GB)
- Corresponding author
- Montgomery, Grant W.
- ORCID
- Venue
- Human Reproduction Update
- Publisher
- Oxford University Press (OUP)
- Published
- 2008
- Volume
- 14
- Issue
- 5
- Pages
- 447-457
- ISSN
- 1355-4786 (ISSN-L)
- 1460-2369
- PMC
- PMC2574950
- OpenAlex
- W2119478717
- Cited by
- 211
- References
- 105
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 1 · 2023: 4 · 2022: 5 · 2021: 9 · 2020: 7 · 2019: 17 · 2018: 8 · 2017: 9 · 2016: 13 · 2015: 18 · 2014: 9 · 2013: 20 · 2012: 24
- FWCI
- 2.88
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Reproduction Update (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- National Health and Medical Research Council
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD050537, HD050537)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Keywords
- endometriosis, genetic susceptibility, genetic association studies, candidate genes, genetic linkage, chromosome 7, chromosome 10, genome-wide association study, replication study, disease classification
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 10, Endometriosis, Female, Humans, Genetic Linkage, Polymorphism, Genetic, Risk Factors, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Genomics
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