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

AbstractOBJECTIVE:
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.
AuthorsMin Ding, Lingxiao Li, Xianping Ding, Huaying Ren, Rong Zhong
JournalZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 32 Issue 2 Pg. 269-73 (Apr 2015) ISSN: 1003-9406 [Print] China
PMID25863102 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Endosomal Sorting Complexes Required for Transport
  • Endopeptidases
  • USP8 protein, human
  • Ubiquitin Thiolesterase
Topics
  • Adult
  • Asian People (ethnology, genetics)
  • Azoospermia (genetics)
  • Base Sequence
  • Case-Control Studies
  • China (ethnology)
  • Endopeptidases (genetics)
  • Endosomal Sorting Complexes Required for Transport (genetics)
  • Genetic Predisposition to Disease (ethnology)
  • Genotype
  • Humans
  • Infertility, Male (ethnology, genetics)
  • Male
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide
  • Ubiquitin Thiolesterase (genetics)

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