Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia

Abstract Background: Single nucleotide polymorphisms (SNPs) in some genes which are involving in sperm maturation, are considered as one of the main reason for male infertility. Any changes in protamine genes may cause abnormal histone-protamine replacement during spermiogenesis and have been indicated to cause sperm DNA damage and infertility. Objective: The aim of present case-control study was to evaluate the frequency of SNPs in protamine1 (PRM1) and protamine2 (PRM2) genes sequences in idiopathic teratozoospermia in comparison with normal individuals. Materials and Methods: In this study, several SNPs in PRM1 (c.49 C>T, c.102 G>T and c.230A>C) and PRM2 (rs545828790, rs115686767, rs201933708, rs2070923 and rs1646022) were investigated in 30 idiopathic infertile men with teratospermia (case group) in comparison to 35 normal men (controls). Analysis of SNPs were performed using PCR-direct sequencing. Results: In PRM1 gene c.230A>C, as a synonymous polymorphism, was detected in teratozoospermic men (heterozygous n=26; homozygous minor n=1) and controls (heterozygous n=15; homozygous minor n=4). All case group and controls were determined normally for a missense polymorphism of rs545828790 in PRM2 as well as rs115686767 and rs201933708, as a synonymous mutation. The findings showed an intronic variant of rs2070923 in PRM2 among two groups. Also, rs1646022, as a missense polymorphism, occurred in teratozoospermic men (heterozygous n=10; homozygous minor n=5) and controls (heterozygous n=13; homozygous minor n=2). However, there were no significant differences in evaluated SNPs of PRM1 and PRM2 between the groups, except for c.230A>C that frequency of altered CA genotype was significant in infertile men with teratozoospermia (p=0.001). Conclusion: In conclusion, it was demonstrated that PRM2 G398C and A473C polymorphisms were associated with the teratozoospermia and its genetic variation was in relation to semen quality, sperm apoptosis, and morphology in Iranian population. This study is a preliminary study and is presenting data for future comprehensive study for making a clinical conclusion that this gene polymorphisms are a biomarkers for susceptibility to teratozoospermia.