Aims: The present study was designed to survey the associations between polymorphisms of the common single nucleotide polymorphism (SNP) rs4938723 in the miR-34b/c gene, as well as the rs3746444 SNP in the miR-499 gene, and impairment of spermatogenesis leading to oligospermia and azoospermia in the Chinese population. Subjects and Methods: Specimens were collected from four hundred seventeen infertile men with oligospermia or azoospermia and 234 controls for this investigation. Polymerase chain reaction and restriction fragment length polymorphism analyses was used for genotyping the rs4938723 and rs3746444 SNPs. A chi-square analysis was used to compare the differences in allelic and genotypic frequencies between patients and controls. Results: The distribution of alleles at the rs3746444 locus of the miR-499 gene in patients was not significantly different from controls. There were, however, significant differences in the genotypic (p = 0.040) and allelic (p = 0.021) distributions of the rs4938723 SNPs between patients with oligospermia and controls. The CC genotype at the rs4938723 locus was significantly higher in in patients with oligospermia than controls (13.9% vs. 7.3%, p = 0.016, odds ratio = 2.064, 95% confidence interval 1.132-3.764). Conclusion: The CC genotype of the rs4938723 locus in the miR-34b/c gene may enhance susceptibility to oligospermia.
Keywords: SNP; miR-34b/c; miR-499; oligospermia; spermatogenesis impairment.