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

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.