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.

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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