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The association between mutations in ubiquitin-specific protease 26 (USP26) and male infertility: a systematic review
Qin-Yu Li1, Yu-Cong Zhang2, Chao Wei1
1Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Abstract:
During recent decades, the association between mutations in ubiquitin-specific protease 26 (USP26) and male infertility remains doubtful. We conducted this meta-analysis to evaluate the association between mutations in USP26 and male infertility according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. It was registered in the International Prospective Register of Systematic Reviews (PROSPERO; CRD42021225251). PubMed, Web of Science, and Scopus were systematically searched for comparative clinical studies, which were written in English and provided eligible data. Studies were included when they compared USP26 mutations in azoospermic, oligozoospermic, and asthenozoospermic patients with controls with normal sperm parameter values or whose partners had experienced spontaneous pregnancy. Pooled odds ratio (OR) with 95% confidence interval (CI) was calculated with random effect models. Overall, twelve studies with 3927 infertility patients and 4648 healthy controls were included. The association between overall USP26 mutations and infertility was not significant (OR = 1.60, 95% CI: 0.51-5.01). For specific mutations, the pooled ORs were 1.65 (95% CI: 1.02-2.69) for cluster mutation (including 370-371insACA, 494T>C, and 1423C>T), 1.80 (95% CI: 0.35-9.15) for c.576G>A, 1.43 (95% CI: 0.79-2.56) for c.1090C>T, and 3.59 (95% CI: 2.30-5.59) for c.1737G>A. Our results suggest that several mutations (cluster mutation, c.1737G>A) may play roles in male infertility, while others (c.576G>A and c.1090C>T) do not show notable associations with male infertility. More high-quality clinical researches are needed for validation.
Insights
This meta-analysis found that while overall mutations in ubiquitin-specific protease 26 (USP26) are not significantly linked to male infertility, specific mutations like cluster mutations and c.1737G>A show a potential association. Further research is needed to confirm these findings.
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Medicine
Background:
- The role of ubiquitin-specific protease 26 (USP26) mutations in male infertility has been debated.
- Understanding genetic factors is crucial for diagnosing and treating male factor infertility.
Purpose of the Study:
- To systematically evaluate the association between USP26 gene mutations and male infertility using a meta-analysis.
- To identify specific USP26 mutations potentially linked to various forms of male infertility.
Main Methods:
- A meta-analysis was conducted following PRISMA 2020 guidelines.
- Searched PubMed, Web of Science, and Scopus for relevant comparative clinical studies.
- Included studies comparing USP26 mutations in infertile men (azoospermia, oligospermia, asthenospermia) with controls.
Main Results:
- Twelve studies involving 3927 infertile patients and 4648 controls were analyzed.
- Overall USP26 mutations showed no significant association with male infertility (OR = 1.60).
- Specific mutations, including cluster mutations (OR = 1.65) and c.1737G>A (OR = 3.59), indicated a potential role in male infertility.
Conclusions:
- Certain USP26 mutations, specifically cluster mutations and c.1737G>A, may contribute to male infertility.
- Mutations c.576G>A and c.1090C>T did not demonstrate a significant association.
- High-quality clinical research is required to validate these findings and clarify the role of USP26 in male infertility.
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