An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population

Purpose To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China. Methods Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) analysis. Furthermore, nucleotide sequences were sequenced. Results SNP5 (rs28368082) in the exon7 of SPO11 was identified to be associated with idiopathic male infertility (P=0.037 for differences across genotypes). A transversion (C5679T) was detected in eight patients (11.0%), which led arginine change into tryptophan. And this variant was not found in the remaining patients and controls. Conclusion A SPO11 SNP was associated with idiopathic male reproduction, suggested that SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction. Further research on this issue is still necessary.