• PMID: 25863102
• Gene Name: USP8
• Condition: Male infertility, Oligozoospermia, Azoospermia
• Association: Associated
• Mutation: rs2241769, rs11857513, rs7174015, rs3743044, CAAG haplotype
• Population size: 465
• Population details: 465 (316 infertile males (72 severe oligozoospermic (SO) cases, 244 non-obstructive azoospermic (NOA) cases), 149 fertile males
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USP8
• Other associated phenotypes: Male infertility, Oligozoospermia, Azoospermia

[Study on the association of USP8 gene polymorphisms with male infertility in ethnic Han Chinese from Sichuan]

Ding M, Li L, Ding X, Ren H, Zhong R.

OBJECTIVE: To assess the association of single nucleotide polymorphisms (SNPs) of ubiquitin-specific protease 8 gene (USP8) with male infertility among ethnic Han Chinese from Sichuan. METHODS: A total of 316 infertile males were recruited (case group), which included 72 severe oligozoospermic (SO) cases and 244 non-obstructive azoospermic (NOA) cases. The control group consisted of 149 fertile males. The genotypes of 4 SNPs (rs2241769, rs11857513, rs7174015 and rs3743044) were determined with a Sequenom MassArray technique. The frequencies of genotype, allele and haploptye were analyzed. RESULTS: No significant difference was detected in the allelic or genotypic frequencies of the 4 SNPs between the two groups (P>0.05). Based on linkage disequilibrium analysis and haplotype construction, the frequency distribution of haplotype CAAG showed a significant difference between non-obstructive azoospermic patients and the controls (P=0.021). CONCLUSION: The 4 SNPs (rs2241769, rs11857513, rs7174015 and rs3743044) of USP8 gene may not be associated with male infertility in ethnic Hans from Sichuan. While the haplotype CAAG may be a down-regulating factor for the risk of NOA. FAU - Ding, Min AU - Ding M AD - Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu,Sichuan 610064, P.R. China. Brainding@scu.edu.cn. FAU - Li, Lingxiao AU - Li L FAU - Ding, Xianping AU - Ding X FAU - Ren, Huaying AU - Ren H