Association of WNT4 polymorphisms with endometriosis in infertile patients

Author(s)

Mafra, Fernanda ^[1] ; Catto, Michele ^[1] ; Bianco, Bianca ^[1] ; Barbosa, Caio Parente ^[1] ; Christofolini, Denise ^{[1, 2]}

Affiliation

^[1] Fac Med ABC, Collect Hlth Dept, Div Reprod Hlth & Populat Genet, Santo Andre - Brazil

^[2] CEPES, BR-09060650 Santo Andre, SP - Brazil

• Document type: Journal article
• Source: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS; v. 32, n. 9, p. 1359-1364, SEP 2015.
• Web of Science Citations: 11

Abstract

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. 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. 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. 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. (AU)

• FAPESP's process: 12/22394-8 - Genomic Variation as risk factor for the development and progression of endometriosis
• Grantee: Fernanda Abani Mafra
• Support type: Scholarships in Brazil - Doctorate
• FAPESP's process: 13/14470-9 - Implications of the presence of WNT4 gene polymorphisms in infertile women and correlation with the risk of endometriosis development and progression
• Grantee: Denise Maria Christofolini
• Support type: Regular Research Grants