Single nucleotide polymorphisms in protamine 2 genes in fertile and infertile human males in Southwest, Nigeria

Abstract

It is reported that variations in the nucleotide sequence of protamine genes play contributory role in men’s fertility. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) in protamine 2 genes (PRM2) of infertile and fertile men in Southwest, Nigeria. In this cross-sectional study, 92 volunteers (57 infertile men and 35 fertile men) age 30-59 years who visited fertility clinics at the time of this study were recruited after thorough evaluation of their clinical fertility histories and confirmation of their fertility statuses, aided by Computer Assisted Semen Analyzer and WHO guidelines for semen analysis. Polymerase chain reaction analysis of SNPs in PRM2 in the semen samples was determined. BLAST results of the 5’-UTR of PRM2, identified 16 novel SNPs in total, in the infertile and fertile men. Out of the 16 SNPs discovered, 15 SNPs were found in the infertile men, randomly distributed and 7 SNPs were discovered in the fertile men. However, there were six SNPs which were common between the infertile and fertile men. The common SNPs occurred at one or more loci in the PRM2 in the infertile men than in the fertile men. We found one variant rs2069880799 (16C>T) present in the fertile men but missing in the infertile men. In general, the SNPs in PRM2 were statistically different between the infertile and fertile men when compared. All the SNPs discovered, according to NCBI database were clinically non pathological.