Investigating the association of FSHB-211G > T polymorphism with male infertility and reproductive parameters in the men from South-West of Iran

Background: Male infertility is a complex disorder that arises from a combination of genetic and environmental factors. The presence of a particular genetic variation, referred to as rs10835638 (c.-211G > T) polymorphism in the follicle stimulating hormone beta subunit (FSHB) gene, might be involved in the disruption of reproductive parameters and its association with male infertility. The aim of this research is to examine the correlation between the FSHB-211G > T polymorphism and the susceptibility to male infertility in South-west of Iran. Methods: The study recruited a cohort of 120 patients diagnosed with male infertility, and 120 fertile men serving as a healthy control group, January 2018 until April 2021. By employing the PCR-RFLP technique, the association between FSHB-211G > T polymorphism with the risk of male infertility was investigated. Additionally, bioinformatics analysis was utilized to further investigate the potential implications of these genetic variations on male reproductive health. Results: The genotype and allele frequency analysis for FSHB-211G > T polymorphism show that frequency of GT genotype in the case and control groups, was 22.5 % and 9 %, respectively, also the frequency of TT genotype in the cases is 12 times more than controls group. There was a significant statistical difference between GT (P = 0.008, OR = 4.682, CI = 95 %, 2.299-8.555) and TT (P = 0.000, OR = 16.500, CI = 95 %, 4.239-35.510) genotypes and also, T allele (P = 0.000, OR = 5.618, CI = 95 %, 2.848-11.082) of this polymorphism with risk of male infertility. The analysis of association between the FSHB-211G > T with reproductive parameters in infertile men group revealed the strongest associations to FSH levels. Significantly lower FSH levels were detected in the TT genotype carriers (P = 0.003, OR = 5.214, CI = 95 %, 1.260-10.317) and also T allele (P = 0.007, OR = 2.602, CI = 95 %, 1.303-5.194) of FSHB-211G > T. In contrast the TT genotype (P = 0.023, OR = 6.250, CI = 95 %, 1.287-12.349) and T allele (P = 0.001, OR = 3.215, CI = 95 %, 1.610-6.420) of this polymorphism was associated with significantly increased LH level. Also, there was significant statistical difference between the T allele of FSHB-211G > T polymorphism with decreased sperm motility (P = 0.009, OR = 2.676, CI = 95 %, 1.868-3.236). Conclusion: The gene polymorphism FSHB-211G > T has been linked to male infertility. Furthermore, this study has pinpointed a new genetic marker that is connected to decrease FSH levels, elevated LH levels, and reduced sperm motility. This genetic marker shows promise as a molecular diagnostic tool for specific cases of male infertility. Continued research with larger and more diverse populations is essential to fully grasp the impact of this gene polymorphism on male infertility.