Cystathionine B-Synthase 844ins68 Gene Variant and Idiopathic Male Infertility

Male infertility is a multifactorial disorder that affects approximately 10% of couples at childbearing age, with substantial clinical and social impact. The main regulating enzymes in folate and homocysteine metabolism are methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS). In our previous study, we showed that a mutation C677T in the gene, MTHFR is a risk factor for idiopathic male infertility in the Indian population. To assess that a common polymorphism in the cystathionine beta-synthase (CBS) gene (844ins68) is acting as susceptibility factor for male infertility or not, we investigated this variant in 120 idiopathic male infertile patients and 200 fertile male controls. No significant association was observed (OR = 0.8348, 95% CI: 0.1578 to 4.4164, chi(2) = 0.040, P > .05); therefore we conclude that this common 844ins68 variant is a neutral insertion variant for idiopathic male infertility in the Indian population.