Association of DPF3 polymorphisms (rs10129954) with male infertility in the Malaysian population - A preliminary study

Male infertility is a multifactorial disorder with genetic abnormalities contributing to 15-30% of cases. Numerous genetic polymorphisms have been investigated to understand their role in male infertility, but few studies show significant associations. The Double PHD Fingers 3 (DPF3) gene is essential for chromatin remodelling and histone-to-protamine transition during spermatogenesis. This study aims to investigate the association between DPF3 (rs10129954) polymorphism and male infertility in Malaysians. This case-control study involved 30 infertile and 30 fertile control males. Genomic DNA was extracted, and genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Associations between genotypes and infertility risk were assessed using Fisher’s Exact Test and odds ratios (ORs) with 95% confidence intervals (CI). The frequencies of CC, CT, and TT genotypes of DPF3 (rs10129954) polymorphism were 3.3%, 36.7%, and 60.0% in infertile males, and 0%, 23.3%, and 76.7% in fertile controls, respectively. The allele frequencies for C and T were 21.7% and 78.3% in infertile males, compared to 11.7% and 88.3% in fertile control males. No significant differences were observed between the frequencies of DPF3 (rs10129954) genotype and allele in infertile and fertile groups (p>0.05). The T allele was associated with a reduced risk of male infertility (OR: 0.478; 95% CI: 0.176-1.297; p=0.074), differing from studies in Chicago, Japanese and Han Chinese populations, which linked the T allele to an increased risk. Our findings suggest that the T allele of DPF3 (rs10129954) is not significantly associated with male infertility. Larger studies are needed to confirm this observation.