Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese...

The aim of this study was to explore the association between the SNP rs4045481 in RNF212 gene, rs1050482 and rs11531577 in STAG3 gene as well as rs2288846 in RFX2 gene and male infertility with azoospermia in Chinese population.

Two hundreds and twenty infertile patients with azoospermia and 248 fertile men were recruited in the present study. The four SNPs investigated were genotyped using polymerase chain reaction and restriction fragment length polymorphism assay. The differences in allelic and genotypic frequencies between patients and controls were evaluated by chi-square test.

No significant differences in allele and genotype frequencies of SNP rs1050482 and rs11531577 in STAG3 gene as well as rs2288846 in RFX2 gene between patients with azoospermia and controls were observed. However, the frequencies of allele C(43.6% vs. 34.1%, P = 0.003, OR = 1.498, 95% CI 1.150-1.192) and genotype CC (24.6% vs. 12.0%, P = 0.001, OR = 2.346, 95% CI 1.448-3.858) were significantly higher in patients with azoospermia than those in controls at the rs4045481 locus in RNF212 gene.

The polymorphism of SNP rs4045481 in RNF212 gene might be associated with azoospermia and genotype CC of this SNP may be a risk factor of azoospermia.