• PMID: 20233025
• Gene Name: SLC19A1
• Condition: Male infertility
• Association: Not Associated
• Mutation: SLC19A1 gene (rs1051266:G>A, 80G>A)
• Population size: 439
• Population details: 439 (213 infertile Caucasian men, 226 ethnically matched controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SLC19A1
• Other associated phenotypes: Male infertility

The SLC19A1 80G>A polymorphism is not associated with male infertility

Kurzawski M, Stefankiewicz J, Kurzawa R, Górnik W, Baczkowski T, Drozdzik M.

Previous studies have revealed that genetic factors may be involved in regulating folate turnover, e.g. methylenetetrahydrofolate reductase polymorphism in the development of male infertility. Folate transporter, encoded by the SLC19A1 gene, commonly referred to as reduced folate carrier (RFC) is a transmembrane protein, which transfers hydrophilic folates across the cell membrane. It was hypothesized that common polymorphism within the SLC19A1 gene (rs1051266:G>A, 80G>A) may alter RFC function. The aim of this study was to investigate a potential association between the SLC19A1 80G>A polymorphism and male infertility in a case-control study. The SLC19A1 80G>A polymorphism was determined by means of a polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) assay in 213 infertile Caucasian men and 226 ethnically matched controls. The distribution of SLC19A1 genotypes in the infertile men was as follows: GG 26.8%, GA 51.2%, AA 22.1% and in fertile men: GG 24.8%, GA 50.4%, AA 24.8%, and was comparable in the both the evaluated groups. Odds ratios (95% confidence interval, CI): 0.90 (0.59-1.38) and 0.88 (0.56-1.36) for dominant and recessive models remained non-significant, also after adjustment for age: 0.89 (0.57-1.37) and 0.80 (0.51-1.25), respectively. Our study demonstrated that polymorphism 80G>A of the SLC19A1 gene is not associated with male infertility. FAU - Kurzawski, Mateusz AU - Kurzawski M AD - Department of Pharmacology, Pomeranian Medical University, Szczecin, Poland. FAU - Stefankiewicz, Joanna AU - Stefankiewicz J FAU - Kurzawa, Rafał AU - Kurzawa R FAU - Górnik, Wanda AU - Górnik W FAU - Baczkowski, Tomasz AU - Baczkowski T