New candidate genes associated to endometriosis
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This study associated KAZN rs10928050 and LAMA5 rs2427284 SNPs with endometriosis-related infertility in a larger Brazilian cohort, identifying them as new candidate genes for the condition.
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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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Cited by (12)
- CNC–PNIPAM Drug Delivery System Improves Endometrial Receptivity via Natural Killer Cell Immune Tolerance in Endometriosis 2026
- The Polymorphic Locus rs780093 of the GCKR Gene Is Associated with the Risk of Infertility in Endometriosis 2025
- Matrix tropism influences endometriotic cell attachment patterns 2025
- A global population genomic analysis shows novel insights into the genetic characteristics of endometriosis 2023
- Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort 2023
- The role of genetic factors in developing endometrioid lesions 2023
- The Eutopic Endometrium Proteome in Endometriosis Reveals Candidate Markers and Molecular Mechanisms of Physiopathology 2022
- Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing 2021
- The Genetic Background of Endometriosis: Can ESR2 and CYP19A1 Genes Be a Potential Risk Factor for Its Development? 2020
- Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women With Endometriosis 2020
- Effect of Maternal Advanced Endometriosis on Risk of Congenital Malformations for Infants Born After in vitro Fertilization and Frozen–Thawed Embryo Transfer: Analysis of 28,600 Newborns 2019
- NAT2 gene polymorphisms and endometriosis risk: A PRISMA-compliant meta-analysis 2019
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- europepmc
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- openalex
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- pubmed
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