The c.-190 C>A transversion in promoter region of protamine 1 gene as a genetic risk factor in Egyptian men with idiopathic infertility.

Protamines are considered the most important structure in the sperm nucleus, and they are proteins with a significantly large amount of amino acids carrying a positive charge, which allows the formation of the tight package of the genomic DNA in the spermatozoa. Many authors studied the abnormalities in the protamine 1 (PRM1) and/or protamine 2 (PRM2) genes and reported their possible association with male infertility. The chromosome 16 (16p13.2) carries these genes containing multiple undiscovered single nucleotide polymorphisms. The aim of the present study was to investigate the association of c.-190 C>A transversions that occur in PRM1 with idiopathic infertility in a sample of Egyptian men. It was a case-control study, and blood samples were collected from sixty male patients complaining of idiopathic infertility and forty healthy fertile males. The c.-190 C>A transversion in promotor region protamine 1 gene (rs2301365) was assessed by 5' nuclease assay, using Rotor-Gene Q real-time PCR system. The results of the present study revealed that CA and AA genotypes in PRM1 gene were associated significantly with low sperm concentration and decreased sperm motility (p = 0.001). Cases carrying A allele had a 6.05-fold increased risk for idiopathic infertility than cases carrying the C allele (OR: 6.05, 95% CI: 2.038-17.98 p statistically significant ≤0.05). Analysis of the results revealed that the c.-190 C>A transversion may be involved in the development of male infertility.

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