• PMID: 21729137
• Gene Name: MTHFR
• Condition: Male infertility
• Association: The overall results of the study indicate that MTHFR C677T polymorphism is not associated with male infertility.
• Mutation: MTHFR C677T polymorphism
• Population size: 436
• Population details: 436 (206 infertile men, 230 ethnically matched controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with male infertility in a South Indian population

Vani GT, Mukesh N, Rama Devi P, Usha Rani P, Reddy PP.

Previous studies have revealed that genetic factors may be involved in regulating the mechanism of infertility, e.g., MTHFR gene polymorphism in the development of male infertility. The aim of this study is to examine whether an association exists between MTHFR C677T polymorphism and male infertility. The study was carried out by means of a PCR-RFLP assay in 206 infertile men and 230 ethnically matched controls. The statistical analysis using two-sided Fisher's exact test and Pearson chi-squared test showed CT genotype is associated nonsignificantly with male infertility (OR = 1.19, 95% CI = 0.71-1.97). Because of the lack of TT homozygotes in the controls, a combined odds ratio of CT and TT homozygotes against the control has been calculated (OR = 1.36, 95% CI = 0.83-2.22), and the same was insignificant. The overall results of the study indicate that MTHFR C677T polymorphism is not associated with male infertility. CI - © 2011 Blackwell Verlag GmbH. FAU - Vani, G T AU - Vani GT AD - Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India. vanigt@gmail.com FAU - Mukesh, N AU - Mukesh N FAU - Rama Devi, P AU - Rama Devi P FAU - Usha Rani, P AU - Usha Rani P