H2BFWT基因单核苷酸多态性与西南地区男性不育相关性研究

Association of single nucleotide polymorphisms in H2BFWT with male infertility in southwest China

目的探讨位于X染色体上的H2BFwT基因外显子中单核苷酸多态性（ single nucleotide polymorphism, SNP）与西南地区男性不育发病风险的关系。方法PCR扩增H2BFWT基因外显子并测序，分析来自西南地区的312例男性不育患者及211名正常男性标本，对所发现的SNP位点在病例组及正常组中的分布频率进行统计学分析。结果检测到的SNP位点主要分布在H2BFWT基因的第1外显子中；SNP位点368G／A（rs553509）与～9C／T（rs7885967）在病例组中的分布频率均高于正常对照组，且差异具有统计学意义。联合368G／A及-9C／T两位点进行分析发现，368G与-9T两个等位基因的同时出现将增加男性不育的发病风险。结论H2BFWT基因中368G／A与-9C／T两个SNP位点与西南地区男性不育的发生具有一定的相关性，可能是导致西南地区男性不育的基因易感性因素之一。

Objective To assess the association of single nucleotide polymorphisms （SNPs） in exons of H2BFWT gene with male infertility in southwest China. Methods 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. Results 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. Conclusion 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.