PRMT6, PEX10 and SOX5 genetic variants were identified as male
infertility-associated loci in a genome-wide association study and further
validated in various populations. Still, the results of previous
case-control studies varied, which could be due to differences in
participants? ethnic backgrounds. The main purpose of the present study was
to evaluate the supposed association of these variants with idiopathic male
infertility in North Macedonian population. Furthermore, we aimed to conduct
the systematic quantitative data synthesis which includes the results of
previous studies on the same issue in other European and non-European
populations. A total of 137 men from North Macedonia diagnosed with
idiopathic infertility and 130 age-matched fertile controls were included in
the present case-control study. PCR-RFLP method was used for genotyping.
Meta-analysis was performed by OpenMeta-analyst statistical software.
Variants rs10842262 in SOX5, rs2477686 in PEX10 and rs12097821 in PRMT6
showed the lack of statistically significant differences in genotype
distributions between men diagnosed with idiopathic infertility and the
control group. Still, rs10842262 allele G frequency was significantly
increased in men with poor sperm concentration (P= 0.024, OR = 2.10, 95%CI
1.08-4.06). Meta-analysis further showed the association of rs10842262 and
rs12097821 with the risk of idiopathic male infertility. Our results
obtained in North Macedonian population supported the previous reports on
the involvement of rs10842262 in the genetic basis of male infertility. The
meta-analysis confirmed the association of rs10842262 and rs12097821 with
male infertility occurrence. Still, additional studies are needed to support
the present findings.