Genetics of endometriosis: state of the art on genetic risk factors for endometriosis
Abstract
Developments in high-throughput genotyping technology have driven discovery of genomic regions associated with an increased risk of endometriosis. In all, 16 genomic regions have been associated with risk of endometriosis in one or more populations. The latest meta-analysis including 17,045 endometriosis cases identified 14 genomic regions supported by results from multiple studies. No independent associations were identified from direct genotyping of common and low-frequency protein-coding variants. This suggests that the most common genetic factors that contribute to endometriosis risk are located in regulatory DNA sequences and alter the regulation of gene transcription. Evidence from different methods is essential to identify the target genes and transcripts that contribute to altered disease risk. Potential target genes in three chromosome regions showing altered gene regulation include LINC00339 and CDC42 on chromosome 1, CDKN2A-AS1 on chromosome 9, and VEZT on chromosome 12. Further functional studies are needed to confirm the causal genes in these and other regions to understand pathways that increase endometriosis risk and help identify novel targets for interventions to improve diagnosis and treatment.
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Genome-wide association studies identified 10 or 15 loci with single-nucleotide polymorphisms associated with severe endometriosis, located in DNA sequences regulating target genes.
“Genomewide association studies identified 10 (50) or 15 (51) loci with single-nucleotide polymorphisms (52) associated with severe endometriosis, but located in DNA sequences regulating target genes (53).”
From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [51]
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- Authors
- Fung, J. N., & Montgomery, G. W.
- Affiliations
- The University of Queensland (AU)
- Corresponding author
- Montgomery, Grant W.
- Venue
- Best Practice & Research Clinical Obstetrics & Gynaecology
- Publisher
- Elsevier BV
- Published
- 2018-07
- Volume
- 50
- Pages
- 61-71
- ISSN
- 1521-6934 (ISSN-L)
- OpenAlex
- W2789362562
- Cited by
- 41
- References
- 60
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 4 · 2023: 3 · 2022: 3 · 2021: 5 · 2020: 10 · 2019: 9 · 2018: 4
- FWCI
- 1.05
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Best Practice & Research Clinical Obstetrics & Gynaecology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- NHMRC Fellowship (1078399)
- NHMRC (GNT1026033, GNT1049472, GNT1050208)
- 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 risk factors, genome-wide association study, regulatory DNA sequences, gene expression regulation, Cdc42, chromatin regulation, disease susceptibility loci
- MeSH terms
- Carrier Proteins, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 9, Endometriosis, Female, Genetic Markers, Humans, Membrane Proteins, Risk Factors, Cyclin-Dependent Kinase Inhibitor p16, Genetic Predisposition to Disease, cdc42 GTP-Binding Protein, Cyclin-Dependent Kinase Inhibitor p18, RNA, Long Noncoding
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