Association of HSD17B1 Gene Polymorphisms with Male Infertility in the Khyber Pakhtunkhwa Population, Pakistan

Male infertility is a complex disease recognized by the World Health Organization as a global health concern that affects men’s reproductive health. This study investigated the association of the HSD17B1 gene, a key regulator of the hormone testosterone, with male infertility. Objectives: To find out the genetic variation in the HSD17B1 gene and the association of HSD17B1 gene polymorphisms with male infertility. Methods: The study involved 106 male patients with infertility issues and 80 healthy controls. Hormonal profiles were evaluated using ELISA, and semen parameters such as sperm count, morphology, and motility were examined to identify any abnormalities. Target genomic sequencing was performed to identify three SNPs, rs605059, rs992310724, and rs2676530, in the HSD17B1 gene that are associated with male infertility. Results: The findings indicated a significant association between rs992310724 variations and testosterone levels (p-value=0.041). However, rs605059 (p-value=0.783) and rs2676530 (p-value=0.381) were not significantly associated with male infertility. Conclusions: The findings suggest the potential for personalized diagnostic and therapeutic strategies, as well as the need for a multidisciplinary approach in male infertility research. Male reproductive health is influenced by genetic variations, with different SNPs emerging as potential contributors.