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The association of four SNPs in DNA mismatch repair genes with idiopathic male infertility in northwest China
International Journal of Immunogenetics ( IF 2.2 ) Pub Date : 2019-07-24 , DOI: 10.1111/iji.12448
Xinyan Zhao 1, 2, 3 , Chunlan Mu 1, 2, 3 , Jia Ma 1, 2, 3 , Xiaojing Dai 4 , Haiyan Jiao 1, 2, 3
Affiliation  

DNA mismatch repair (MMR) plays a critical role in the maintenance of genetic integrity. The failure of MMR in sperm DNA was found in male infertility. However, its aetiology in idiopathic male infertility (IMI) remains unknown. The present study was to investigate whether the four SNPs (rs26279 in MSH3, rs1800734 and rs4647269 in MLH1 and rs175080 in MLH3) in MMR genes were associated with IMI or not. The interactions of the SNPs were also performed to clarify its genetic aetiology. In the present study, 209 clinically diagnosed IMI men and 201 fertile men were recruited. Four SNPs were genotyped by DNA sequencing. It was the first time to investigate the association between rs26279 in MSH3 and IMI. The genotype frequency distribution of rs26279 (A>G) in MSH3 was found to be significantly different between IMI and control (p < 0.05), as well as azoospermia. The rs1800734 and rs4647269 in MLH1 were found to be significantly different between severe oligozoospermia and control groups (p < 0.05). However, rs175080 in MLH3 was not significantly different between IMI and control (p > 0.05). Multifactor dimensionality reduction (MDR) for detecting interactions showed that there were no interactions among the four SNPs on IMI.

中文翻译:

西北地区DNA错配修复基因4个SNP与特发性男性不育的相关性

DNA 错配修复 (MMR) 在维持遗传完整性方面起着关键作用。在男性不育症中发现了精子 DNA 中 MMR 的失败。然而,其在特发性男性不育症 (IMI) 中的病因仍然未知。本研究旨在探讨MMR基因中的4个SNP(MSH3中的rs26279、MLH1中的rs1800734和rs4647269以及MLH3中的rs175080)是否与IMI相关。还进行了 SNP 的相互作用以阐明其遗传病因。在本研究中,招募了 209 名临床诊断为 IMI 的男性和 201 名可育男性。通过 DNA 测序对四个 SNP 进行基因分型。这是第一次研究MSH3中rs26279与IMI之间的关联。发现 MSH3 中 rs26279 (A>G) 的基因型频率分布在 IMI 和对照之间存在显着差异(p < 0.05),以及无精子症。发现 MLH1 中的 rs1800734 和 rs4647269 在严重少精子症和对照组之间存在显着差异(p < 0.05)。然而,MLH3 中的 rs175080 在 IMI 和对照之间没有显着差异(p > 0.05)。用于检测相互作用的多因素降维 (MDR) 表明,IMI 上的四个 SNP 之间没有相互作用。
更新日期:2019-07-24
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