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.
In this pilot study, male subjects were stratified on the basis of 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 analyzed 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.
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< 0.045, OR =2.776, 95% CI = 1.025 -7.513) while, the GA genotype was not significantly associated with infertility (p< 0.290 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 > 0.05).
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.
International journal of clinical practice. 2020 Jun 27 [Epub ahead of print]
Wardah Rafaqat, Muhammad Rohan Kayani, Tasneem Fatima, Saeeda Shaharyar, Shagufta Khan, Mussarat Ashraf, Usman Afzal, Rehana Rehman
Medical College Aga Khan University, Stadium Road, 74800, Karachi, Pakistan., Department of Biological &, Biomedical Sciences Aga Khan University, Stadium Road, 74800, Karachi, Pakistan.