New candidate genes associated to endometriosis
Abstract
A previous GWAS study performed on Brazilian pooled samples indicated some SNPs (single nucleotide polymorphisms) differentially frequent in infertile patients with endometriosis and controls. Some of them were located in the genes whose biological function suggests that they could be associated with endometriosis pathogenesis; thus, the purpose here was to confirm GWAS findings in a larger group of cases and controls in order to associate the results with the pathogenesis of endometriosis. Then, a genetic association study comprising 394 infertile women with endometriosis and 650 fertile control women was conducted. TaqMan allelic discrimination assays were used to investigate the frequency of three SNPs in the genes KAZN (rs10928050), LAMA5 (rs2427284), and TAC3 (rs733629). The analysis revealed a significant association of KAZN rs10928050 (p = .015) and LAMA5 rs2427284 (p = .0059) SNPs with endometriosis-related infertility, while TAC3 rs733629 showed no difference between cases and controls. As a conclusion, it was possible to observe that individual genotyping of a larger sample of patients and controls confirmed the association among KAZN and LAMA5 with endometriosis-related infertility and revealed new candidate genes contributing to the condition.
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Polymorphisms rs10928050 of the KAZN gene and rs2427284 of the LAMA5 gene correlate with endometriosis.
“Christofolini et al. showed a correlation of the polymorphisms rs10928050 of the KAZN gene and the rs2427284 of the LAMA5 gene with endometriosis [194].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [194]
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- Authors
- Christofolini, D. M., Mafra, F. A., Catto, M. C., Bianco, B., & Barbosa, C. P.
- Affiliations
- Faculdade de Medicina do ABC (BR)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Christofolini, Denise Maria
- Venue
- Gynecological Endocrinology
- Publisher
- Informa UK Limited
- Published
- 2018-07-25
- Volume
- 35
- Issue
- 1
- Pages
- 62-65
- ISSN
- 0951-3590 (ISSN-L)
- 1473-0766
- OpenAlex
- W2885015422
- Cited by
- 19
- References
- 16
- Citations by year
- 2026: 1 · 2025: 2 · 2023: 4 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gynecological Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Fundo de Amparo à pesquisa do Estado de São Paulo (/3–7)
- FAPESP
- Scholarships 2012 Conselho Nacional de desenvolvimento científico e tecnológico
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Life Sciences › Immunology and Microbiology › Immunology › Reproductive System and Pregnancy
- Keywords
- endometriosis, endometriosis-associated infertility, candidate genes, single nucleotide polymorphisms, LAMA5, TAC3, genetic association, endometriosis pathogenesis
- MeSH terms
- Adult, Alleles, Endometriosis, Female, Genotype, Humans, Infertility, Female, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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