Abstract | OBJECTIVE: 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.
|
Authors | Min Ding, Lingxiao Li, Xianping Ding, Huaying Ren, Rong Zhong |
Journal | Zhonghua 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 |
PMID | 25863102
(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)
|