title: [Study on the association of USP8 gene polymorphisms with male infertility in ethnic Han Chinese from Sichuan].
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors: Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu,Sichuan 610064, P.R. China. Brainding@scu.edu.cn.
authors: Min
authors: M
authors: Ding
authors: Lingxiao
authors: L
authors: Li
authors: Xianping
authors: X
authors: Ding
authors: Huaying
authors: H
authors: Ren
authors: Rong
authors: R
authors: Zhong
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D010450:Endopeptidases / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; D010450:Endopeptidases; C541534:USP8 protein, human; D043222:Ubiquitin Thiolesterase