Genetics of endometriosis: current status and prospects
Open accessAbstract
Family and twin studies have shown that heritability accounts for endometriosis development to an extent similar to other complex genetic diseases. Both linkage analysis and association studies have been performed to identify genetic determinants for the disease. Results from the linkage scan of 1,176 families collected thanks to a joint effort between an Australian and a UK group supported significant linkage to a novel susceptibility locus on chromosome 10q26. Although gene variants with effects on the disease predisposition have been proposed to exist and several candidates have been put forward, their effects have not been or are yet to be confirmed. The main categories of candidate genes studied have been those involved in detoxification processes, sex steroid biosynthesis and action, immune system regulation. Genetic studies on endometriosis face numerous challenges as the disease has several manifestations and different forms. Moreover, strong gene-environmental interactions might definitively influence approaches to identify genetic variants involved. Genome-wide association studies that survey most of the genome for causal genetic variants provide the potential for future progress.
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Gene expression is commonly altered in endometriosis and in the eutopic endometrium of women with the disease.
“It is clear that gene expression is commonly altered in endometriosis and in the eutopic endometrium of women with the disease.”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [14]
A mutation that commonly leads to endometriosis has not been identified.
“Although multiple candidate genes have been postulated, a mutation that commonly leads to endometriosis has not been identified.14,15”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [14]
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References 75 · Cited by 62
- Authors
- Vigano, P.
- Venue
- Frontiers in Bioscience
- Publisher
- IMR Press
- Published
- 2007
- Volume
- 12
- Issue
- 8-12
- Pages
- 3247
- ISSN
- 1093-4715 (ISSN-L)
- 1093-9946
- DOI
- 10.2741/2308
- OpenAlex
- W2081789347
- Cited by
- 62
- References
- 75
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 3 · 2022: 3 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 3 · 2016: 4 · 2015: 8 · 2014: 5 · 2013: 3 · 2012: 5
- FWCI
- 0.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Frontiers in bioscience (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
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, heritability, genetic susceptibility, linkage analysis, chromosome 10q26, candidate genes, detoxification genes, sex steroid biosynthesis, immune regulation, gene-environment interaction, genome-wide association study, twin studies, family studies
- MeSH terms
- Endometriosis, Female, Humans, Molecular Epidemiology
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