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聚(ADP - 核糖)聚合酶1基因(PARP1)常见单核苷酸多态性rs1136410与男性少精子症不育易感性的关联。

Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia.

作者信息

Chen Hui, Pu Xiao-Ying, Zhang Ruo-Peng, A Zhou-Cun

机构信息

Department of Genetics, College of Agriculture and Biology, Dali University, Dali, Yunnan, 671003, China.

出版信息

J Assist Reprod Genet. 2014 Oct;31(10):1391-5. doi: 10.1007/s10815-014-0311-3. Epub 2014 Aug 10.

Abstract

PURPOSE

This study aims to explore possible associations between polymorphisms of common SNP rs1136410 and rS1805405 in PARP1 gene and male infertility with spermatogenesis impairment.

METHODS

The polymorphic distributions of SNP rs1136410 and rS1805405 were investigated by polymerase chain reaction and restriction fragment length polymorphism analysis in a Chinese cohort including 371 infertile patients with idiopathic azoospermia or oligospermia and 231 controls.

RESULTS

Significant differences in the frequencies of allele and genotype of SNP rs1136410 were observed between patients with oligospermia and controls. The allele C (46.3 % vs. 36.4 %, P = 0.003) and genotype CC (22.6 % vs. 13.4 %, P = 0.014) significantly increased, whereas genotype TT (30 % vs. 40.7 %, P = 0.021) significantly decreased in patients with oligospermia compared with controls at this SNP locus.

CONCLUSIONS

These results indicated that genotype CC of SNP rs1136410 may increase the risk of oligosoermia and genotype TT of rs1136410 may have some protective effect from oligospermia, suggesting that the polymorphism of SNP rs1136410 in PARP1 gene may modify the susceptibility to male infertility with oligospermia.

摘要

目的

本研究旨在探讨聚(ADP - 核糖)聚合酶1(PARP1)基因常见单核苷酸多态性(SNP)rs1136410和rS1805405的多态性与男性不育伴生精功能障碍之间可能存在的关联。

方法

采用聚合酶链反应和限制性片段长度多态性分析方法,对一个中国队列中的371例特发性无精子症或少精子症不育患者和231例对照者进行SNP rs1136410和rS1805405的多态性分布研究。

结果

少精子症患者与对照者之间,SNP rs1136410的等位基因和基因型频率存在显著差异。在该SNP位点,少精子症患者的等位基因C(46.3%对36.4%,P = 0.003)和基因型CC(22.6%对13.4%,P = 0.014)显著增加,而基因型TT(30%对40.7%,P = 0.021)显著减少。

结论

这些结果表明,SNP rs1136410的基因型CC可能增加少精子症的风险,而rs1136410的基因型TT可能对少精子症有一定的保护作用,提示PARP1基因中SNP rs1136410的多态性可能改变男性少精子症不育的易感性。

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Polymorphism in DNMT1 may modify the susceptibility to oligospermia.DNMT1 多态性可能会改变少精子症的易感性。
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本文引用的文献

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Genetic causes of spermatogenic failure.生精障碍的遗传学病因。
Asian J Androl. 2012 Jan;14(1):40-8. doi: 10.1038/aja.2011.67. Epub 2011 Dec 5.

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