ABSTRACT
Single nucleotide polymorphisms [SNPs] in a number of genes involved in sperm maturation are considered as one of the main factors for male infertility. The aim of the present case-control study was to examine the association of SNPs in protamine1 [PRM1] and protamine2 [PRM2] genes with idiopathic teratozoospermia. In this case-control study, some 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 teratozoospermia [case group] in comparison with 35 fertile men [controls]. Genotyping of SNPs was undertaken using polymerase chain reaction [PCR]-direct sequencing. For PRM1, c.230A>C, as a synonymous polymorphism, was detected in both teratozoo- spermic men [heterozygous n=26, homozygous minor n=1] allele frequency C[48] A[52] and controls [heterozygous n=15, homozygous minor n=4]. All cases and controls were genotyped for rs545828790 in PRM2, a missense poly- morphism, as well as rs115686767 and rs201933708, both of which synonymous variants. The findings showed an intronic variant in PRM2 [rs2070923] was also present in both groups. Also, rs1646022, 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 SNPs of PRM1 and PRM2 between the two groups, however, for c.230A>C, the frequency of the CA genotype was significantly higher in infertile men with teratozoospermia [P=0.001]. We demonstrate 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 the Iranian population. This study is a preliminary study and presenting data as part of a future comprehensive study to clinically establish whether these gene polymorphisms are biomarkers for susceptibility to teratozoospermia
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
ABSTRACT
Background: Endometriosis is a disease that affects women of reproductive age. This disease is characterized by the presence of endometrial-like tissues [endometrial or stromal glands] outside the uterus and shows significantly elevated prevalence in industrial regions. Additionally, an interaction between genetics and environmental factors is assumed for the disease. Enzymes belonging to the cytochrome P450 [CYP] family are participated in detoxi?cation process of a wide range of environmental toxins and carcinogens. Thereby, they are good link for the interaction. CYP1A1 which belong to cytochrome P450 [CYPs] superfamily, is a very important gene for the metabolism of carcinogens
Objective: The aim of this study was to analyze the frequency of the MspI polymorphism of CYP1A1 gene and its relation to endometriosis
Materials and Methods: Genomic DNA was isolated from 93 endometriosis women and 139 healthy controls. Genotyping was performed using polymerase chain reaction followed by restriction fragment length polymorphism analysis
Results: Frequencies of the TT, TC, and CC genotype of CYP1A1 gene polymorphism in patients were 73.1 percent, 22.6 percent, and 4.3 percent, while frequencies in controls were 74.1 percent, 22.3 percent, and 3.6 percent, respectively. So there was no significant differences between the genotypes in two groups [p=0.961]
Conclusion: According to our study, MspI polymorphism of CYP1A1 gene appears to be not associated with the risk of endometriosis in the studied population. However, additional studies, especially with larger sample size are needed to validate these findings