Polymorphisms in protamine 1 and 2 genes in asthenozoospermic men: A case-control study

Abstract

Background:Asthenozoospermia is one of the etiologies for male factor infertility. It was shown that any abnormality in protamines genes, reduction of protamines transcript and protamines deficiency may play a key role in asthenozoospermia.Objective:The aim of the current study was the evaluation of protamine-1 and 2 genes (PRM1 and PRM2) polymorphisms in asthenozoospermic men.Materials and Methods: In this case-control study, the samples were corresponded to asthenozoospermic specimens of infertile men. The normozoospermic samples were considered as the control group. DNA sequence amplification was performed using four PRM1 and PRM2 primers, designed from 5' to 3' flank regions. The human PRM1 and PRM2 gene sequences were screened in search of potential mutations in highly prevalent polymorphism regions in asthenozoospermia versus normozoospermia.Results: Totally, nine highly prevalent polymorphism regions between the forward and reverse primers were screened. Three of them corresponded to PRM1 and six to PRM2. The most prevalent polymorphism regions in PRM1 were related to 102G>T (rs35576928), 49C>T (rs140477029) and 139C>A (rs737008). In the PRM2, 6 highly prevalent polymorphisms regions were screened, including 248C>T (rs779337774), 401G>A (rs545828790), 288C>T (rs115686767), 288G>C (rs201933708), 373C>A (rs2070923), and 298G>C (rs1646022). The allele frequencies of three upper mentioned single nucleotide polymorphisms in asthenozoospermic men including 373C>A, 298G>C and 139C>A was higher than the control group.Conclusion:Our findings indicated that the frequency of some altered genotypes in asthenozospermia was slightly higher than control group. We proposed more extensive studies to be sure that; these genotypes can precisely be related to diagnosis of asthenozoospermia, as the molecular markers.

Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: a systematic review, meta-analysis, and meta-regression

“…Table 1 presentations the features of studies entered to the meta-analysis. The studies [23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] were published from 2003 to 2019. Twelve studies 23,[26][27][28][29][30][31]33,35,[37][38][39] were reported in Caucasian, four studies 24,32,34,36 in Asian, and one 25 in mixed ethnicities.…”

“…The studies [23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] were published from 2003 to 2019. Twelve studies 23,[26][27][28][29][30][31]33,35,[37][38][39] were reported in Caucasian, four studies 24,32,34,36 in Asian, and one 25 in mixed ethnicities. The genotyping method was PCR-based in fourteen studies [23][24][25][26][27][28][29][30][31]33,35,[37][38][39] and Mass ARRAY in three studies 32,34,36…”

“…Twelve studies 23,[26][27][28][29][30][31]33,35,[37][38][39] were reported in Caucasian, four studies 24,32,34,36 in Asian, and one 25 in mixed ethnicities. The genotyping method was PCR-based in fourteen studies [23][24][25][26][27][28][29][30][31]33,35,[37][38][39] and Mass ARRAY in three studies 32,34,36 . The source of controls was hospital-based in ten studies 25,[31][32][33]33,34,[36][37][38][39] and populationbased in seven studies 24,[26][27][28][29][30]…”

“…The genotyping method was PCR-based in fourteen studies [23][24][25][26][27][28][29][30][31]33,35,[37][38][39] and Mass ARRAY in three studies 32,34,36 . The source of controls was hospital-based in ten studies 25,[31][32][33]33,34,[36][37][38][39] and populationbased in seven studies 24,[26][27][28][29][30]35 . Tables 2 and 3 show the prevalence of the genotypes and alleles of PRM1 and PRM2 polymorphisms.…”

“…We excluded the studies with a deviation of HWE in the controls, including two studies 30,33 for polymorphism of PRM1 rs737008, six 25,29,30,36,38,39 for PRM2 rs1646022, and four 25,30,32,38 for PRM2 rs2070923. The results after excluding are presented in Table 6.…”