PRDM9 gene polymorphism may not be associated with defective spermatogenesis in the Chinese Han population.

PRDM9 is essential for the progression through early meiotic prophase, including double strand break repair, homologous chromosome pairing, and sex body formation during spermatogenesis. In order to evaluate the association of the PRDM9 gene variants with defective spermatogenesis in the Chinese Han population, we assessed two single nucleotide polymorphisms (SNPs) in the PRDM9 gene (rs1874165 and rs2973631) using Sequenom iplex technology in 309 cases of severely defective spermatogenesis (199 cases with non-obstructive azoospermia and 110 cases with severe oligozoospermia) and 377 controls. The allele frequencies of the SNPs were not statistically different between the study groups and the controls (P = 0.95 in rs1874165 and P = 0.80 in rs2973631, respectively). The genetic model analysis of the two SNPs indicated that these SNPs variants may not be associated with defective spermatogenesis in the Chinese Han population.