• PMID: 21147082
• Gene Name: USP26
• Condition: Male infertility, azoospermia, oligozoospermia, asthenozoospermia, or oligoasthenozoospermia
• Association: Associated
• Mutation: USP26 (508G>A, G170R, 576G>A )
• Population size: 322
• Population details: 322 (221 infertile men with azoospermia, oligozoospermia, asthenozoospermia, or oligoasthenozoospermia, 101 control fertile men using DNA sequencing)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USP26
• Other associated phenotypes: Male infertility, azoospermia, oligozoospermia, asthenozoospermia, or oligoasthenozoospermia

Association between ubiquitin-specific protease USP26 polymorphism and male infertility in Chinese men

Shi YC, Wei L, Cui YX, Shang XJ, Wang HY, Xia XY, Zhou YC, Li H, Jiang HT, Zhu WM, Huang YF.

BACKGROUND: Increased sperm ubiquitin was inversely associated with sperm count and motility. Ubiquitin-specific protease 26 (USP26), which is an X-linked gene, has been studied as a potential infertility gene. There are conflicting reports on whether variations in USP26 are associated with spermatogenesis. METHODS: In order to assess that USP26 polymorphisms contribute to male infertility, we screened 221 infertile men with azoospermia, oligozoospermia, asthenozoospermia, or oligoasthenozoospermia, and 101 control fertile men using DNA sequencing. RESULTS: There were six polymorphisms identified, including an unreported variation (508G>A, G170R). Only the allele frequency of 576G>A was significantly higher in fertile men than infertile patients (p<0.001), although this variant does not result in an amino acid change. The major haplotypes in fertile and infertile men were TGATC (76.2% vs 47.5% of the population, p<0.001) and TGGTC (14.9% vs 39.4%, p<0.001). The haplotype TGATC was under-transmitted, whereas the haplotype TGGTC was over-transmitted in infertile men with asthenozoospermia and oligoasthenozoospermia. CONCLUSIONS: Our results indicated the variation of USP26 was not directly associated with human sperm count but suggested it might be a potential role in sperm motility. The 576G>A synonymous single nucleotide polymorphism (SNP) might have a role in improving the sperm motility. CI - Copyright © 2010. Published by Elsevier B.V. FAU - Shi, Yi-chao AU - Shi YC AD - Department of Reproduction and Genetics, Jinling Hospital, Nanjing University School of Medicine, Nanjing, PR China. FAU - Wei, Li AU - Wei L FAU - Cui, Ying-xia AU - Cui YX FAU - Shang, Xue-jun AU - Shang XJ FAU - Wang, Hao-yang AU - Wang HY FAU - Xia, Xin-yi AU - Xia XY FAU - Zhou, Yu-chun AU - Zhou YC FAU - Li, Hong AU - Li H FAU - Jiang, Hai-tao AU - Jiang HT FAU - Zhu, Wei-ming AU - Zhu WM