• PMID: 24456105
• Gene Name: MTHFR
• Condition: Varicocele
• Association: The results suggest that 1298AA genotype in MTHFR gene raises the risk of varicocele approximately 2.3 times more compared with men carrying other genotypes. The results show that genetic factors have an important role in the molecular basis of varicocele
• Mutation: MTHFR gene in C677T and A1298C
• Population size: 216
• Population details: 216 (107 varicocele patients, 109 fertile healthy individuals)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Varicocele, Male infertility

Is methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism related with varicocele risk?

Ucar VB, Nami B, Acar H, Kilinç M.

Varicocele is one of the main reasons for male infertility the exact aetiology of which remains unclear. Methylenetetrahydrofolate reductase (MTHFR) is important for DNA synthesis and methylation, which has a key role during spermatogenesis. Numerous literature suggests that the MTHFR polymorphism may be genetic risk factors for male infertility. In this study, we evaluated C677T and A1298C MTHFR gene polymorphism frequency in patients with varicocele and normal men. A total of 107 varicocele patients and 109 fertile healthy individuals were included. Genotyping of the MTHFR gene in C677T and A1298C base pairs carried out by using real-time PCR technique and afterwards, the statistical analysis accomplished. There is a statistical difference for the frequency of 1298AA genotype in patients with varicocele compared with normal controls (P = 0.0051, OR = 2.2750). Instead, subsequently, 1298/A allel frequency in patient group was significantly higher in comparison with control group (P = 0.0174). According to our results, 1298AA genotype in MTHFR gene raises the risk of varicocele approximately 2.3 times more compared with men carrying other genotypes. The results show that genetic factors have an important role in the molecular basis of varicocele. CI - © 2014 Blackwell Verlag GmbH. FAU - Ucar, V B AU - Ucar VB AD - Department of Medical Genetics, Selçuk University Medical School, Konya, Turkey. FAU - Nami, B AU - Nami B FAU - Acar, H AU - Acar H