o:30221 Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis Asocijacija varijanti u genima PRMT6, PEX10 i SOX5 sa idiopatskim muškim sterilitetom: Dokazi iz populacije Severne Makedonije i ažurirana meta-analiza en ABSTRACT 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. male infertility, rs10842262, rs12097821, rs2477686, meta-analysis 1552099 10.2298/GENSR2301355R 2023-06-19T13:40:45.264Z 44 yes 46 Srećko Rajovski Private healthcare institution Clinical Hospital "Acibadem Sistina", Skoplje, North Macedonia Nemanja Vučić University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Serbia person Jelena Karanović University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Serbia person Suzana Matijašević University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Serbia person Dušanka Savić-Pavićević University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Serbia person Zorana Dobrijević University of Belgrade, Institute for the Application of Nuclear Energy INEP, Serbia doktor nauka-biološke nauke person 0000-0002-4652-7719 Goran Brajušković University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Serbia person application/pdf 1125521 https://phaidrabg.bg.ac.rs/o:30221 no yes 16 70 92000001 11A02 11A29 11A2905 Genetika 55 1 355 372 Društvo genetičara Srbije 2023