PRM1 variant rs35576928 (Arg>Ser) is associated with defective spermatogenesis in the Chinese Han population

This study aimed to analyze the distribution of single-nucleotide polymorphisms (SNPs) of testis-expressed 15 (TEX15) gene in the Chinese Han infertile men and fertile men. This case-control study comprised 309 infertile men with nonobstructive azoospermia (NOA, n = 199) or severe oligozoospermia (SO, n = 110) and 377 fertile controls. Six SNPs were genotyped by Sequenom iplex technology. The results showed that the variants rs323346 and rs323347 contributed to the increasing risk of SO (P = .041, odds ratio [OR] = 1.635, 95% confidence interval [CI] = 1.018-2.628 and P = .046, OR = 1.616, 95% CI = 1.006-2.597). The haplotype AT of the SNPs rs323347 and rs323346 could reduce risk in the patients with SO (P = .040, OR = 0.616, and 95% CI = 0.383-0.990). The haplotype GC of the variants rs323347 and rs323346 conferred a significantly increased risk of SO (P = .040, OR = 1.624, 95% CI = 1.010-2.610). Thus, the polymorphisms rs323346 and rs323347 of the TEX15 gene could be considered the genetic risk factors for spermatogenic failure in the Chinese Han population.