Study on the association of USP8 gene polymorphisms with male infertility in ethnic Han Chinese from Sichuan.
- Author:
Min DING
1
;
Lingxiao LI
;
Xianping DING
;
Huaying REN
;
Rong ZHONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; 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
- From: Chinese Journal of Medical Genetics 2015;32(2):269-273
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the association of single nucleotide polymorphisms (SNPs) of ubiquitin-specific protease 8 gene (USP8) with male infertility among ethnic Han Chinese from Sichuan.
METHODSA 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.
RESULTSNo 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).
CONCLUSIONThe 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.
