CHD5 gene (rs9434741) might be a genetic risk factor for infertility in non-obstructive azoospermia and severe oligozoospermia.

Inability to conceive is one of the health concerns. Chromodomain helicase DNA-binding protein5 (CHD5) gene is a major regulator in the replacement of histone proteins with protamines, the chromatin remodelling in spermatogenesis process. Thus, functional SNPs in this gene can disrupt sperm development. This study aimed to investigate the relationship between CHD5 polymorphism (rs9434741) and male infertility. This case-control study was conducted on 103 infertile and 121 fertile men. CHD5 polymorphism rs9434741 was tested using T-ARMS-PCR to investigate its association with male infertility. The presence of G allele caused 1.52 fold increase (OR = 1.52, 95% CI = 1.09-2.31 and p = 0.019) in infertility susceptibility in the patient group. GG genotype and (AG+GG) were significantly related to the increased risk of infertility (OR = 3.13, 95% CI = 1.26-7.76, p = 0.013; OR = 2.72, 95% CI = 1.35-5.47), respectively. Significant differences were observed between genotypes in NOA and SO groups compared to the control group (p = 0.029). Sperm count and total motility were significantly different among three genotypes in infertile men and the control group (p < 0.001). Analysis of genotypes and alleles frequency indicated statistically significant differences between the patient and control groups (p < 0.05). This study showed that CHD5 polymorphism (rs9434741) could be associated with the risk of male infertility. It is recommended to conduct further studies on different populations.