• PMID: 25755145
• Gene Name: USP26
• Condition: Male infertility
• Association: Not associated
• PMID: 25755145
• Gene Name: USP26
• Condition: Male infertility
• Association: Not associated
• Mutation: NM_031907.1: c.363_364insACA, c.494T>C, c.1423C>T, c.1090C>T, c.1737G>A
• Population size: 4313
• Population details: 4313 (1716 patients, 2597 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USP26
• Other associated phenotypes: Male infertility

Evidence from enzymatic and meta-analyses does not support a direct association between USP26 gene variants and male infertility

Zhang W, Liu T, Mi YJ, Yue LD, Wang JM, Liu DW, Yan J, Tian QB.

Do men who carry mutations in USP26 have an increased risk of infertility? The association between mutations in USP26 gene and male infertility has been studied intensively. However, the results from different groups are controversial. In particular, biological function of the mutant proteins remains to be elucidated. In this study, we conducted a USP cleavage assay and a meta-analysis of the published literature (up to 31 May 2013) to evaluate the impact of five frequent mutations (NM_031907.1: c.363_364insACA, c.494T>C, c.1423C>T, c.1090C>T, c.1737G>A) on enzymatic activity of the USP26 and to assess the strength of the association between those mutations and male infertility. The USP cleavage assay showed that those mutations do not affect USP26 enzymatic activity. Moreover, the results of meta-analysis of ten case-control studies (in total 1716 patients and 2597 controls) revealed no significant association (P > 0.05) between USP26 mutations and male infertility. The pooled ORs were 1.58 (95% CI: 0.81, 3.10) for cluster mutations (c.363_364insACA, c.494T>C, c.1423C>T), 1.60 (95% CI: 0.93, 2.74) for c.1090 C>T and 2.64 (95% CI: 0.97, 7.20) for c.1737 G>A. Evidence from both enzymatic and meta-analyses does not support a direct association between USP26 variants and male infertility. Further research is necessary to study the biological function of USP26, which may provide clues as to the regulation of androgen receptor signalling. CI - © 2015 American Society of Andrology and European Academy of Andrology. FAU - Zhang, W AU - Zhang W AD - Department of Pathology, Hebei Medical University, Shijiazhuang, China. FAU - Liu, T AU - Liu T FAU - Mi, Y-J AU - Mi YJ FAU - Yue, L-D AU - Yue LD FAU - Wang, J-M AU - Wang JM FAU - Liu, D-W AU - Liu DW FAU - Yan, J AU - Yan J