Systematic review of genome-wide association studies on susceptibility to endometriosis
Open accessAbstract
Endometriosis is a complex and heterogeneous disease in which extrinsic and intrinsic factors, such as genetics, provide to the disease development. Genome-wide association (GWA) studies may be essential to recognize genetic variants associated with the endometriosis risk. However, in the current literature there are some conflicting results between these studies. The aim of the present study was to undertake a systematic review about endometriosis GWA studies, to describe the disease-associated genes and single nucleotide polymorphisms (SNPs) to try to understand the endometriosis etiopathogenesis, besides to discuss possible bias of conflicting results among these studies. This study is a systematic review of GWA studies in endometriosis published until December 31 th, 2019 by PubMed database, considering the following descriptors: endometriosis and ("polymorphism" or "SNP" or "genetic polymorphism" or "variants" or "locus") and ("GWA" or "Genome-wide" or "Genome wide" or "Genetic association study"). The included studies were analyzed with methodological rigor (STROBE and PRISMA) to enable better quality of case-control and meta-analysis studies, respectively. Of the 88 articles found, only 15 were eligible. All articles had appropriate quality evaluated by STROBE and PRISMA checklists (77% and 81%, respectively). Overall, 35,022 endometriosis cases and 181,760 controls were analyzed. The number of participants in each study was quite different (171 to 17,045 for the cases and 308 to 150,021 for the controls), with a predominance of European ethnicity. Most endometriosis cases (86%) were diagnosed by surgery, while selection of the control group was different among studies. About 47% performed only one stage (discovery stage) and 53% performed both the discovery and replication analyses. Eleven genes/SNPs were associated with endometriosis risk in more than one article (chromosome 1, 2, 6, 7, 9 and 12; WNT4, GREB1, FN1, IL1A, ETAA1, RND3, ID4, NFE2L3, CDKN2B-AS1 and VEZT). SNPs were localized in intergenic and intronic regions, their risk allele frequencies varied among the studies and their results were conflicting. In summary, WNT4 rs7521902, GREB1 rs13394619, FN1 rs1250248, IL1A rs6542095 and VEZT rs10859871 variants are highlighted due to high frequency and pathways and function that each gene influences in the development of endometriosis. However, the replication and validation of these variants in different populations are necessary for a better understanding of the endometriosis etiopathogenesis, in order to optimize the diagnosis and improve the efficiency of clinical treatment of the disease.
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A systematic review of GWAS studies published by PubMed until December 31, 2019 indicates that variants of the genes WNT4 rs7521902, GREB1 rs13394619, FN1 rs1250248, IL1A rs6542095 and VEZT rs10859871 may affect the development of endometriosis.
“The study, which is a systematic review of GWAS studies published by PubMed until December 31, 2019, indicates that variants of the genes WNT4 rs7521902, GREB1 rs13394619, FN1 rs1250248, IL1A rs6542095 and VEZT rs10859871 may affect the development of endometriosis.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [196]
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- Authors
- Cardoso, J. V., Perini, J. A., Machado, D. E., Pinto, R., & Medeiros, R.
- Affiliations
- Universidade Estadual da Zona Oeste (BR)
- Corresponding author
- Perini, Jamila Alessandra
- ORCID
- Venue
- European Journal of Obstetrics & Gynecology and Reproductive Biology
- Publisher
- Elsevier BV
- Published
- 2020-12
- Volume
- 255
- Pages
- 74-82
- ISSN
- 0028-2243 (ISSN-L)
- 0301-2115
- OpenAlex
- W3093414444
- Cited by
- 36
- References
- 54
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 1 · 2023: 3 · 2022: 6 · 2021: 9
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- European Journal of Obstetrics & Gynecology and Reproductive Biology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- 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, single nucleotide polymorphisms, disease-associated genes, Wnt4, GREB1, FN1, interleukin-1 alpha, Rnd3, Id4, NFE2L3, CDKN2B-AS1, study bias
- MeSH terms
- Antigens, Surface, Endometriosis, Female, Genotype, Humans, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Basic-Leucine Zipper Transcription Factors, Genome-Wide Association Study, Genetic Association Studies
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