Association of UHRF1 gene polymorphisms with oligospermia in Chinese males
Association of UHRF1 gene polymorphisms with oligospermia in Chinese males
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UHRF1基因多态性与中国男性少精症的关系
DOI：
10.1007/s10815-019-01614-7
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发表时间：
2019-12
影响因子：
3.1
通讯作者：
Runsheng Li
中科院分区：
文献类型：
--
作者：
Weiqiang Zhu;Jing Du;Qing Chen;Zhaofeng Zhang;Bin Wu;Jianhua Xu;Tianqi Li;Yuan Bi;Huijuan Shi;Runsheng Li
背景：在精子发生过程中，duhrf1在维持DNA甲基化模式中发挥重要作用。本研究旨在评估中国人群中UHRF1基因变异与少精症男性不育之间的关系。方法对735名中国男性进行病例对照研究，采用直接测序法评估UHRF1基因单核苷酸多态性（SNP）基因型和等位基因。利用双荧光素酶报告基因试验研究了突变对UHRF1转录的影响。结果共鉴定出24个snp，其中9个snp位于启动子区，3个位于5 '非翻译区，5个位于内含子，7个位于外显子。有趣的是，SNP rs2656927基因型频率（P= 0.014）和rs8103849基因型频率（P< 0.001）在病例组1少精症男性和正常精子症男性之间差异显著。此外，仅在患者组中检测到四个变体（其中三个是新的），其中两个在内含子中，其他在启动子区域中。荧光素酶测定结果表明，与-1615C>T-T和-1562A>G-A等位基因相比，-1615C>T-T和-1562A>G-G等位基因相比，-1615C>T-C和-1562A>G-G等位基因的荧光素酶活性增加。结论在UHRF1基因中检测到2个snp，与对照组有显著性差异。筛选的两个snp影响UHRF1启动子活性，提高了对少精症病理生理的认识。
BackgroundUHRF1 plays an important role in maintaining DNA methylation patterns during spermatogenesis. This study was performed to evaluate the association between UHRF1 gene variations and infertility in males with oligozoospermia in a Chinese population.MethodsIn this case-control study of 735 Chinese men, single-nucleotide polymorphism (SNP) genotypes and alleles in the UHRF1 gene were assessed by direct sequencing. The effects of the mutations on UHRF1 transcription were investigated using a dual-luciferase reporter gene assay.ResultsWe identified 24 SNPs, including nine SNPs in the promoter region, three in the 5′ untranslated region, five in introns, and seven in exons. Interestingly, the genotype frequencies of SNP rs2656927 (P= 0.014) and rs8103849 (P< 0.001) significantly differed between men with oligozoospermia in case group 1 and normozoospermic men. Moreover, four variants (three were novel) were detected only in the patient group, with two in introns and the others in the promoter region. The results of the luciferase assay showed that the -1615C>T-C and -1562A>G-A alleles increased luciferase activity compared with the -1615C>T-T and -1562A>G-G alleles.ConclusionsWe detected two SNPs in the UHRF1 gene showing a significant difference between the case and control groups. Two screened SNPs affected UHRF1 promoter activity, improving the understanding of the pathophysiology of oligozoospermia.
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