Li Tianjun, Ding Xianping, Chen Lin, Li Lingxiao, Zhang Xiaohui
Bio-resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing; Institute of Medical Genetics, College of Life Science, Sichuan University, Chengdu, Sichuan 610064, P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):69-73. doi: 10.3760/cma.j.issn.1003-9406.2014.01.016.
To assess the association of single nucleotide polymorphisms (SNPs) in exons of H2BFWT gene with male infertility in southwest China.
Three hundred and twelve infertile men and 211 fertile men were recruited. PCR was employed to amplify the target fragments of H2BFWT, and PCR products were sequenced. Prevalence of SNPs in the two groups was analyzed by statistical method.
The detected SNPs have mainly distributed in the first exon of the H2BFWT gene. The ratios of 368G/A (rs553509) and -9C/T (rs7885967) were significantly higher in infertile group than fertile group. Additionally, a context-dependent effect was observed between 368G/A and -9C/T which the allele 368G combined with allele -9T will considerably increase the risk of male infertility.
The present study has revealed that the SNPs in H2BFWT are associated with male infertility, and may increase the susceptibility of male infertility in southwest China.
评估中国西南地区H2BFWT基因外显子单核苷酸多态性（SNP）与男性不育症之间的关联。
招募312例不育男性和211例生育男性。采用聚合酶链反应（PCR）扩增H2BFWT的目标片段，并对PCR产物进行测序。用统计学方法分析两组中SNP的发生率。
检测到的SNP主要分布在H2BFWT基因的第一个外显子中。不育组中368G/A（rs553509）和-9C/T（rs7885967）的比例显著高于生育组。此外，观察到368G/A和-9C/T之间存在上下文依赖效应，即等位基因368G与等位基因-9T结合会显著增加男性不育的风险。
本研究表明，H2BFWT中的SNP与男性不育症相关，可能会增加中国西南地区男性不育的易感性。
