• PMID: 18372033
• Gene Name: MSY2
• Condition: Spermatogenic impairment, idiopathic infertile men
• Association: Associated
• Mutation: MSY2 (c.187T>C, allele G of c.1095+16A>G)
• Population size: 536
• Population details: 536 (326 patients with azoospermia or severe oligospermia, 210 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MSY2
• Other associated phenotypes: Spermatogenic impairment, idiopathic infertile men

Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men

Deng Y, Zhang W, Su D, Yang Y, Ma Y, Zhang H, Zhang S.

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. FAU - Deng, Ying AU - Deng Y AD - Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, People's Republic of China. FAU - Zhang, Wei AU - Zhang W FAU - Su, Dan AU - Su D FAU - Yang, Yuan AU - Yang Y FAU - Ma, Yongxin AU - Ma Y FAU - Zhang, Hao AU - Zhang H