• PMID: 20935396
• Gene Name: MTHFR
• Condition: Idiopathic male infertility
• Association: The MTHFR 1298CC genotype is an additional genetic risk factor for idiopathic male infertility in an Indian population.
• Mutation: C677T and A1298C variants of MTHFR
• Population size: 291
• Population details: 291 (151 idiopathic male infertile patients, 140 healthy fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

MTHFR A1298C polymorphism and idiopathic male infertility

Singh K, Singh SK, Raman R.

BACKGROUND: DNA methylation is an important epigenetic feature of DNA that plays a pivotal role in gene expression regulation during spermatogenesis. The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyses the formation of folate intermediates that are vital for DNA synthesis and methylation reactions. C677T and A1298C variants of MTHFR result in reduced plasma folate and increase the susceptibility to various multifactorial disorders. We have already shown that homozygosity for 677 (C ®T) mutation in the MTHFR gene, is a risk factor for idiopathic male infertility in an Indian population. AIM: Recently, we showed that homozygosity for the 677(C;T) mutation in the MTHFR gene is a risk factor for idiopathic male infertility and now we aim to assess whether the A1298C mutation in the same gene is an additional risk factor for idiopathic male infertility in an Indian population. SETTING AND DESIGNS: In a case-control study 151 idiopathic male infertile patients and 140 healthy fertile control individuals were recruited from the University hospital and infertility clinics in Varanasi city, India. MATERIALS AND METHODS: Genotyping for A1298C change of the MTHFR gene was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical Analysis : Allele frequencies were calculated using Fisher's exact test. Odds ratio was calculated as the measure of the association between the MTHFR genotype and idiopathic male infertility. RESULTS: The homozygous (C/C) A1298C polymorphism of the MTHFR gene was present at a statistically high significance in idiopathic azoospermic infertile men (OR=3.4494, CI: 1.0092 to 11.7899, P<0.05). CONCLUSION: The MTHFR 1298CC genotype is an additional genetic risk factor for idiopathic male infertility in an Indian population. FAU - Singh, K AU - Singh K AD - Department of Molecular & Human Genetics, Banaras Hindu University, Varanasi, India. skiran@bhu.ac.in FAU - Singh, S K AU - Singh SK