An Italian association study and meta-analysis with previous GWAS confirm WNT4 , CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
Abstract
BACKGROUND: Although endometriosis may benefit from primary prevention measures, the epidemiological risk factors identified are equivocal. Two genome-wide association studies (GWAS) have been conducted for endometriosis in two different ethnic populations but results are still to be replicated consistently and across various ethnicities. To confirm the association of GWAS-derived susceptibility loci, we conducted a replication Italian case-control study and a meta-analysis. METHODS: An independent set of 305 laparoscopically-proven endometriosis patients and 2710 controls were recruited. Four SNPs-CDKN2BAS rs1333049, rs7521902 close to WNT4, rs12700667 in an inter-genic region on 7p15.2 and fibronectin 1 rs1250248-were selected for this association study. RESULTS: Rs1333049 risk allele G frequency resulted significantly higher in endometriosis patients compared with controls (OR 1.32, 95% CI 1.11 to 1.57), confirming the role of this locus also in the Caucasian population. The meta-analysis showed that rs7521902 was associated with endometriosis at a genome-wide significance (p(meta)=2.23×10(-9)) while for rs1250248, a genome-wide significant p(meta) value of 3.89×10(-9) was detected only in association with severe forms. An epistatic interaction between rs7521902 and rs1250248 (OR 1.56, p=1.19×10(-2)) was found especially in presence of ovarian disease (OR=2.15, p=3.12×10(-4)). CONCLUSIONS: We confirm WNT4, CDKN2BAS and FN1 as the first identified common loci for endometriosis.
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The important role of the WNT4, CDKN2BAS and FN1 genes in endometriosis was confirmed by the research of Pagliardini et al.
“The important role of the WNT4, CDKN2BAS and FN1 genes was confirmed by the research of the team of Pagliardini et al. [184].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [184]
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Identification of Important Genes Associated with Total Cholesterol using Bioinformatics Analysis
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- Authors
- Pagliardini, L., Gentilini, D., Vigano’, P., Panina-Bordignon, P., Busacca, M., Candiani, M., & Di Blasio, A. M.
- Affiliations
- IRCCS Ospedale San Raffaele (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Obstetrics and Gynecology Unit, San Raffaele Scientific Institute, Milano, Italy
- Reproductive Sciences Laboratory, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy
- Department of Obstetrics and Gynecology, Ospedale Macedonio Melloni, Milano, Italy
- Vita-Salute San Raffaele University (IT)
- Molecular Biology Laboratory, Istituto Auxologico Italiano, Milano, Italy
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2012-11-09
- Volume
- 50
- Issue
- 1
- Pages
- 43-46
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W1990457522
- Cited by
- 83
- References
- 20
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 1 · 2023: 5 · 2022: 4 · 2021: 4 · 2020: 9 · 2019: 9 · 2018: 3 · 2017: 9 · 2016: 7 · 2015: 10 · 2014: 7 · 2013: 10
- FWCI
- 10.05
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- 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, genetic susceptibility loci, Wnt4, FN1, single nucleotide polymorphisms, rs1333049, epistasis, ovarian disease, severe endometriosis, Italian population
- MeSH terms
- Alleles, Endometriosis, Female, Fibronectins, Gene Frequency, Humans, Italy, Phenotype, Odds Ratio, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study, Wnt4 Protein, RNA, Long Noncoding
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