Association of polymorphism c.-124G'A and c.-16 C'T in the promoter region of human INHA gene with altered sperm parameters; A pilot study

Objective: The objective of this was to demonstrate the association of Inhibin α (INHα) c.-124G'A and INHα-c.-16 C'T polymorphisms with altered sperm parameters in a selected male population of Karachi, Pakistan. Study Design & Settings: In this pilot study, male subjects were stratified on the basis of the WHO criteria for altered sperm parameters; 83 (cases—altered sperm parameters) and 30 (controls—normal sperm parameters) subjects were included for analysis of INHα-c.124G'A polymorphism and 88 (cases) and 38 (controls) were analysed for INHα -c-16 C'T polymorphism. Genotyping of INHα-c.-124G'A and INHα-c.-16 C'T was performed by PCR-RFLP, genotype distribution in Hardy-Weinberg equilibrium was evaluated by binary logistic regression model. Results: For the c.-124G'A polymorphism in INHα gene, frequency of the three major genotypes in controls was: GG: 80.0%, GA: 20.0% and AA: 0% and in cases was: GG: 59.0%, GA: 30.2% and AA: 10.8%. The GG genotype was significantly associated with male infertility (P '.045, OR = 2.776, 95% CI = 1.025-7.513) while the GA genotype was not significantly associated with infertility (P '.290 OR = 0.580, 95% CI = 0.211-1.593). Frequency of mutant AA genotype was 10.8% in cases (altered sperm parameters) and absent (0%) in normal sperm parameter (controls). The frequencies of three major genotypes CC, CT and TT did not show any significant difference between cases and controls (P '.05). Conclusion: The results from our study exhibited a significant association of c.-124G'A polymorphism in the INHα gene promoter region with male infertility in the Pakistani population. A significant association of c.-16 C'T polymorphism with male infertility, however, was not observed. Further large-scale studies should be conducted to confirm this association.