Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis

Abstract

Purpose A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.

Methods A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.

Results According to codominant (Pcodom = 0.048, ORcodom = 0.57, 95%CI 0.35–0.92) and overdominant (Poverdom = 0.017, ORoverdom = 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (Pcodom = 0.038, ORcodom = 0.47, 95%CI 0.26–0.85; Pdom = 0.031, ORdom = 0.53, 95%CI 0.30–0.94; Poverdom = 0.016, ORoverdom = 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (P = 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.

Conclusion Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.