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

Authors

Wardah Rafaqat, Aga Khan UniversityFollow
Muhammad Rohan Kayani, Aga Khan UniversityFollow
Tasneem Fatima, Aga Khan UniversityFollow
Saeeda Shaharyar, Aga Khan UniversityFollow
Shagufta Khan, Aga Khan UniversityFollow
Mussarat Ashraf, Aga Khan UniversityFollow
Usman Afzal, Aga Khan UniversityFollow
Rehana Rehman, Aga Khan UniversityFollow

Document Type

Article

Department

Biological and Biomedical Sciences

Abstract

Objective: 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 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.
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< 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).
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.

Comments

Volume, issue, and pagination are not provided by the author/publisher

Publication (Name of Journal)

International Journal of Clinical Practice

Recommended Citation

Rafaqat, W., Kayani, M. R., Fatima, T., Shaharyar, S., Khan, S., Ashraf, M., Afzal, U., Rehman, R. (2020). 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. International Journal of Clinical Practice, e13595.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_mc/138