Some Single Nucleotide Polymorphisms of MSY2 Gene Might Contribute to Susceptibility to Spermatogenic Impairment in Idiopathic Infertile Men

Objectives To explore the possible association of the MSY2 gene with idiopathic male infertility in humans. Methods Mutation screening was performed in 326 patients with azoospermia or severe oligospermia and 210 controls by denaturing high-performance liquid chromatography and DNA sequencing. The differences in genotype and allele distribution in the two groups were evaluated. The Haploview program, version 4.0, was used to perform linkage disequilibrium and haplotype analysis. Results A total of eight variations, including five single nucleotide polymorphisms and three rare single nucleotide changes, were identified. The frequencies of allele C of c.187T>C and allele G of c.1095+16A>G were significantly greater in the controls than in the patients, and both seemed to play a protective role against spermatogenic impairment. The haplotype GTCTA, consisting of the five single nucleotide polymorphisms, might be a genetic risk factor for development of male infertility. Conclusions The results of our study suggest that some polymorphisms of the MSY2 gene might be associated with impaired spermatogenesis and that the gene could also be involved in modifying the susceptibility to idiopathic spermatogenic impairment in humans.