Independent Replication and Meta-Analysis for Endometriosis Risk Loci
Open accessAbstract
Endometriosis is a complex disease that affects 6-10% of women in their reproductive years and 20-50% of women with infertility. Genome-wide and candidate-gene association studies for endometriosis have identified 10 independent risk loci, and of these, nine (rs7521902, rs13394619, rs4141819, rs6542095, rs1519761, rs7739264, rs12700667, rs1537377, and rs10859871) are polymorphic in European populations. Here we investigate the replication of nine SNP loci in 998 laparoscopically and histologically confirmed endometriosis cases and 783 disease-free controls from Belgium. SNPs rs7521902, rs13394619, and rs6542095 show nominally significant (p < .05) associations with endometriosis, while the directions of effect for seven SNPs are consistent with the original reports. Association of rs6542095 at the IL1A locus with 'All' (p = .066) and 'Grade_B' (p = .01) endometriosis is noteworthy because this is the first successful replication in an independent population. Meta-analysis with the published results yields genome-wide significant evidence for rs7521902, rs13394619, rs6542095, rs12700667, rs7739264, and rs1537377. Notably, three coding variants in GREB1 (near rs13394619) and CDKN2B-AS1 (near rs1537377) also showed nominally significant associations with endometriosis. Overall, this study provides important replication in a uniquely characterized independent population, and indicates that the majority of the original genome-wide association findings are not due to chance alone.
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Three genetic variants in the area of GREB1 (close to rs13394619) and CDKN2B-AS1 (close to rs1537377) showed nominally significant associations with endometriosis.
“It is worth noting that three genetic variants in the area of GREB1 (close to rs13394619) and CDKN2B-AS1 (close to rs1537377) also showed nominally significant associations with endometriosis [186].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [186]
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- Authors
- Sapkota, Y., Fassbender, A., Bowdler, L., Fung, J. N., Peterse, D., O, D., Montgomery, G. W., Nyholt, D. R., & D'Hooghe, T. M.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Universitair Ziekenhuis Leuven (BE)
- Queensland University of Technology (AU)
- Corresponding author
- Sapkota, Yadav
- Venue
- Twin Research and Human Genetics
- Publisher
- Cambridge University Press (CUP)
- Published
- 2015-09-04
- Volume
- 18
- Issue
- 5
- Pages
- 518-525
- ISSN
- 1832-4274 (ISSN-L)
- 1839-2628
- OpenAlex
- W2414253066
- Cited by
- 43
- References
- 25
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 5 · 2022: 2 · 2021: 4 · 2020: 6 · 2019: 3 · 2018: 7 · 2017: 5 · 2016: 3
- FWCI
- 5.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Twin Research and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- Funders
- Australian Research Council (FT0991022)
- National Health and Medical Research Council (613674, 619667)
- 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 loci, single nucleotide polymorphisms, replication study, meta-analysis, interleukin-1 alpha, GREB1, CDKN2B-AS1, genetic susceptibility
- MeSH terms
- Belgium, Endometriosis, Female, Gene Frequency, Genetic Markers, Humans, Phenotype, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genetic Loci, Genetic Association Studies, Genotyping Techniques
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