Many authors studied the abnormalities in the protamine 1 (PRM1) and/or protamine 2 (PRM2) genes and reported their possible association with male infertility.
In our study, we examined, for the first time in a Turkish population, the association between protamine gene alleles (PRM1 c.-190C>A, PRM1 c.197G>T, and PRM2 c.248C>T), and YBX2 (c.187T>C and c.1095 + 16A>G) and male infertility.
Our data showed that rs737008 and rs2301365 in <i>PRM1,</i> and rs1646022 in <i>PRM2,</i> were significantly associated with male infertility and that gene-gene interaction played a role in male infertility.
These data suggest that the decreasing amount of Prm1 and, as a consequence, the aberrant Prm1:Prm2 mRNA ratio plays an important role for male infertility and may serve as a possible predictive factor for the outcome of ICSI.
Although the PRM1 and PRM2 genes are highly conserved, the single SNP in the PRM2 gene that induces translation termination may result in male infertility due to haploinsufficiency of PRM2.