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

Muhammad Fayaz Khan; Hafsah Muhammad; Muhammad Irfan; Syed Salman Shah; Fahad Ur Rehman; Muhammad Alamgeer; Kamran Ud Din; Muhammad Ilyas; Saifullah Khan

doi:10.54393/pbmj.v8i8.1272

Authors

Muhammad Fayaz Khan Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Hafsah Muhammad Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Muhammad Irfan Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan
Syed Salman Shah Department of Physiology, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Fahad Ur Rehman Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Muhammad Alamgeer Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Kamran Ud Din Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Muhammad Ilyas Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Saifullah Khan Department of Nephrology, Institute of Kidney Diseases, Hayatabad Medical Complex, Peshawar, Pakistan

DOI:

https://doi.org/10.54393/pbmj.v8i8.1272

Keywords:

Male Infertility, Single Nucleotide Polymorphisms (SNPs), Spermatogenesis, HSD17B1 Gene

Abstract

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.

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