Results
| PMID | 26139156 |
| Gene Name | WNT4 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | WNT4 (rs16826658, rs3820282, rs2235529, and rs7521902) |
| Population size | 800 |
| Population details | 800 (400 infertile women with endometriosis, 400 fertile women as controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | WNT4 |
| Other associated phenotypes |
Endometriosis |
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J Assist Reprod Genet. 2015 Sep;32(9):1359-64. doi: 10.1007/s10815-015-0523-1. Mafra, Fernanda| Catto, Michele| Bianco, Bianca| Barbosa, Caio Parente| Christofolini, Denise Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo Andre, Brazil. mafra.fe@gmail.com.| Collective Health Department, Division of Reproductive Health and Population Genetics, Faculd PURPOSE: Recently, several genome-wide association studies have demonstrated an association between endometriosis and markers located in or near to WNT4 gene. In order to assess the validity of the findings, we conducted a replication case-control study in a Brazilian population. METHODS: Genetic association study comprising 400 infertile women with endometriosis and 400 fertile women as controls. TaqMan allelic discrimination technique was used to investigate the relationship between endometriosis and four single-nucleotide polymorphisms (rs16826658, rs3820282, rs2235529, and rs7521902) in WNT4 gene. Genotype distribution, allele frequency, and haplotype analysis of the WNT4 polymorphisms were performed. A p value <0.05 was considered significant. RESULTS: The results revealed a significant association of rs16826658 (p = 7e-04) and rs3820282 (p = 0.048) single-nucleotide polymorphisms (SNPs) on WNT4 gene with endometriosis-related infertility, while rs2235529 and rs7521902 SNPs showed no difference between cases and controls. CONCLUSIONS: Our results suggested that rs16826658 and rs3820282 polymorphisms on WNT4 gene might be involved in the pathogenesis of endometriosis in the infertile women studied. Analysis of WNT4 genetic variants might help to identify patients at high risk for disease development. Mesh Terms: Adult| Biomarkers/*metabolism| Brazil/epidemiology| Case-Control Studies| Endometriosis/*epidemiology/*genetics| Female| Follow-Up Studies| Genetic Association Studies| *Genetic Predisposition to Disease| Genotype| Haplotypes/genetics| Humans| |
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