Genetics of endometriosis
Abstract
Endometriosis long has been recognized as showing heritable tendencies, with recurrence risks of 5% to 7% for first-degree relatives. The risk indicates that polygenic and multifactorial etiology is far more likely to be the cause than mendelian inheritance. The current task is to determine the number and location of genes responsible for endometriosis. Molecular advances of the past decade make identification and elucidation of these genes a reality. The authors review the basis for concluding that endometriosis is a genetic disorder of polygenic/multifactorial inheritance. Genome-wide strategies for identifying causative genes are considered and available data on association or linkage to putative candidate genes systematically reviewed.
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Polymorphisms in the PR gene are implicated as a genetic cause of progesterone resistance.
“with a number of polymorphisms in the PR gene implicated as a genetic cause of progesterone resistance.”
From Endometriosis and Medical Therapy: From Progestogens to Progesterone Resistance to GnRH Antagonists: A Review (2021) · cites this paper as [35]
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- Authors
- Simpson, J. L., Bischoff, F. Z., Kamat, A., Buster, J. E., & Carson, S. A.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Simpson, Joe Leigh
- ORCID
- Simpson, Joe Leigh
- Venue
- Obstetrics and Gynecology Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2003-03
- Volume
- 30
- Issue
- 1
- Pages
- 21-40
- ISSN
- 0889-8545 (ISSN-L)
- OpenAlex
- W2059455531
- Cited by
- 83
- References
- 87
- Citations by year
- 2025: 1 · 2023: 4 · 2022: 4 · 2021: 3 · 2020: 1 · 2019: 2 · 2018: 3 · 2017: 2 · 2016: 3 · 2015: 4 · 2014: 1 · 2013: 6 · 2012: 11
- FWCI
- 1.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Obstetrics and Gynecology Clinics of North America (publishedVersion)
- PubMed (publishedVersion)
- 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, polygenic inheritance, multifactorial etiology, familial recurrence risk, candidate genes, genetic linkage, genome-wide association study, causal genes
- MeSH terms
- Endometriosis, Female, Genes, Genetic Techniques, Humans
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