Association study of rs7192 polymorphism of HLA-DRA gene with male infertility occurrence in Isfahan province of Iran

Background and aims: One third of male factors related to infertilities are basically unknown and it has been predicted to be most of the unknown infertilities based on genetic abnormalities. On the other hands, the effect of HLA-DRA genes on spermatogenesis has been shown recently. So, this study was aimed to assess the association of rs7192 polymorphic site of HLA-DRA gene on male infertility in Isfahan province of Iran. Methods: 100 infertile men with azoospermia or severe oligozoospermia as case group and equal numbers of fertile men as control individuals were selected. Genomic DNA of peripheral blood was extracted after the written consent was taken. rs7192 polymorphic site has been analyzed by ARMS-PCR method in the case and control groups. Results: According to the results, the frequency of G allele was higher in infertile men than the T allele; but, allele frequency differences was not significant between the case and control groups (OR=0.86, P=0.47). However, it has been shown that GG homozygous in comparison to TT homozygous show an increased risk of male infertility but it was not statistically significant (OR=1.47, P=0.4). In parallel, comparison of GG + GT genotypes to TT ones was not also statistically significant between infertile and fertile men (OR=1.43, P=0.4). Conclusion: Association study of polymorphic rs7192 did not show any significant relationship among men infertile with azoospermia or severe oligozoospermia in Isfahan province of Iran

Hsa-miR-27a-3p overexpression in men with nonobstructive azoospermia: A case-control study

Background: The role of KDM3A and its downstream genes in male fertility has been approved in animal models. Additionally, the expression shrinkage of KDM3A is significantly correlated with human azoospermia phenotype. Aberrant expression of micro-RNAs could mislead spermatogenesis and mostly lead to diverse phenotypes of male infertility. Objective: The aim of this study was to evaluate the expression level of hsa-miR-27a- 3p in azoospermic men to reveal its possible association with infertility. Materials and Methods: This case-control study was conducted on 30 azoospermic men, of whom, 19 had non obstructive azoospermia (NOA) and 11 obstructive azoospermia (OA) according to the pathological examinations. Comprehensive bioinformatics investigations were performed securely and hsa-miR-27a-3p was selected afterward. Reverse Transcriptase-quantitative polymerase chain reaction (RTqPCR) method was used and statistical analysis was performed to compare the expression level of hsa-miR-27a-3p in both OA and NOA individuals. Results: In silico analysis suggested hsa-miR-27a-3p, with its potential binding ability to target KDM3A transcripts. The expression analysis of candidate hsa-miR-27a-3p indicated its significant overexpression in NOA men. Conclusion: The hsa-miR-27a-3p was overexpressed in NOA men compared to OA-control individuals. As a consequence, the overexpressed micro-RNA could downregulate directly KDM3A and indirectly TNP1 and PRM1. Therefore, spermatogenesis could be misled and male infertility could be developed. Key words: hsa-miR-27a-3p, Male infertility, KDM3A

Overexpression of hsa-miR-30a-5p and nonobstructive azoospermia: A case-control study

Background: Some previous human and animal studies have supported the idea that KDM3A down-regulation might be the main cause of male infertility, especially in nonobstructive azoospermia (NOA). The regulatory role of micro-RNAs (miRNA) has been investigated in the development of male infertility. Objective: The expression level of hsa-miR-30a-5p in azoospermia was evaluated to reveal its possible association with the etiology of male infertility. Materials and Methods: In this case-control study, 30 men with azoospermia (19 of whom had NOA) were selected as the case individuals, and 11 men with obstructive azoospermia (OA) were selected as control individuals. The best miRNA with the strongest ability to target the KDM3A gene was detected via comprehensive bioinformatics analysis. Reverse transcriptase quantitative polymerase chain reaction was used to assess the expression level of hsa-miR-30a-5p. After analyzing the data, the expression level of hsa-miR-30a-5p was compared between men with NOA and men with OA. Results: The findings supported the idea that hsa-miR-30a-5p is the miRNA with the best ability to target the KDM3A transcript. The expression analysis of hsa-miR-30a-5p indicated a significant overexpression (p = 0.04) in men with NOA compared to in men with OA. Conclusion: Hsa-miR-30a-5p was overexpressed in men with NOA compared to in control individuals. Hsa-miR-30a-5p could target the KDM3A transcript and may suppress its expression. Key words: Hsa-miR-30a-5p, Male infertility, KDM3A, Azoospermia, miRNA

Vitamin D receptor gene variants in Parkinson’s disease patients

Background: Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator. Accumulating data provide evidences that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson’s disease (PD).Aim: To find out whether the risk of the development of sporadic PD might be influenced by VDR gene polymorphisms in an Iranian population or not.Subjects and methods: A genetic study was conducted to investigate the relationship between VDR gene polymorphisms and the severity of PD. Fifty-nine PD patients and 53 matchedhealthy controls were genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) analysis. For this purpose, four single nucleotide polymorphisms (SNPs) in VDR gene including FokI T > C (rs 10735810), BsmI A > G (rs 1544410), ApaI A >C (rs 7975232), and TaqI C> T (rs 731236) have been evaluated.Results: Our genotyping studies revealed that holding ApaI a allele and FokI f allele could significantly increase the risk of developing Parkinson’s disease 1.85 and 2.46 times, respectively (p= 0.023 and 0.008). Moreover, Aa heterozygous of ApaI also shows a significantly elevated risk of developing PD when compared to AA homozygous (OR = 7.44, p= 0.005). For BsmI and TaqI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls. Moreover, in this study, no significant association was found between different genotypes and Hoehn & Yahr staging and Unified Parkinson Disease Rating Stage (UPDRS) rating scale.Conclusion: This study demonstrates a possible association between the VDR FokI and ApaI polymorphism and PD, indicating that VDR polymorphisms may change genetic susceptibility to sporadic PD in the Iranian population

Studying the Serum Factors Involved in the Metabolism of Vitamin D and Polymorphic Loci of VDR Gene on the Incidence of Parkinson's Disease in Isfahan Population

Abstract Background: Vitamin D was recognized with protective effects on nerve cells of Parkinson’s patients. The relationship between several VDR gene polymorphisms and age and risk of the disease was determined. Also, the relationship between VDR gene FOKI genotypes and PD was specified. The main goal of this study is to evaluate the relationship between polymorphic loci of FokI, TaqI, BsmI, ApaI and serum factor related to vitamin D metabolism in Isfahan population. Materials and Methods: Case- control study of 125 Parkinson’s patients with their matched control individuals has been investigated based on Parkinson's disease brain bank criteria of Great Britain. After receiving consent, serum levels were measured. The genetic material was isolated by Miller protocol and polymorphisms has been analyzed and confirmed by repeated PCR-RFLP. Results: Comparing the five serum factors between healthy subjects and patients with Parkinson's disease, we have shown a significant reduction in the levels of calcium, ALP and PTH (p<0.01). However, none of the levels of vitamin D and phosphate show any kind of significant relationship between patients and control subjects. Concentration of blood serumic factors including calcium and PTH showed p-values less than 0.01 between Parkinson's patients and control subjects according to different genotypes containing FokI-F allele,ApaI-A allele and BsmI-b allele . Conclusion: The result of this study showed that each of FokI and ApaI recessive alleles can influence serum calcium and parathyroid hormone between healthy individuals and Parkinson's patients significantly

Overexpression of Hsa-miR-30a-5p and Nonobstructive Azoospermia: A Case-control Study

Background: Some previous human and animal studies have supported the idea that KDM3A down-regulation might be the main cause of male infertility, especially in nonobstructive azoospermia (NOA). The regulatory role of micro-RNAs (miRNA) has been investigated in the development of male infertility. Objective: The expression level of hsa-miR-30a-5p in azoospermia was evaluated to reveal its possible association with the etiology of male infertility. Materials and Methods: In this case-control study, 30 men with azoospermia (19 of whom had NOA) were selected as the case individuals, and 11 men with obstructive azoospermia (OA) were selected as control individuals. The best miRNA with the strongest ability to target the KDM3A gene was detected via comprehensive bioinformatics analysis. Reverse transcriptase quantitative polymerase chain reaction was used to assess the expression level of hsa-miR-30a-5p. After analyzing the data, the expression level of hsa-miR-30a-5p was compared between men with NOA and men with OA. Results: The findings supported the idea that hsa-miR-30a-5p is the miRNA with the best ability to target the KDM3A transcript. The expression analysis of hsa-miR-30a-5p indicated a significant overexpression (p = 0.04) in men with NOA compared to in men with OA. Conclusion: Hsa-miR-30a-5p was overexpressed in men with NOA compared to in control individuals. Hsa-miR-30a-5p could target the KDM3A transcript and may suppress its expression. Key words: Hsa-miR-30a-5p, Male infertility, KDM3A, Azoospermia, miRNA