Association of single nucleotide polymorphisms in H2BFWT with male infertility in southwest China / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of single nucleotide polymorphisms (SNPs) in exons of H2BFWT gene with male infertility in southwest China.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>