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Background and Objectives Regular blood donors may experience iron deficiency due to repeated blood donation. Genetic differences might have an impact on iron deficiency in regular blood donors. Some of these genes include those involved in activities related to iron absorption and transfer in blood. In this study, the association of the rs855791 single nucleotide polymorphism in TMPRSS6 gene with iron levels in male regular blood donors was investigated. Materials and Methods In this cross-sectional study, 130 male regular blood donors participated. CBC tests, serum iron, ferritin, and Total Iron Binding Capacity (TIBC) were performed on their blood samples. The genotypes of the target polymorphisms were determined using the allele-specific PCR method. All collected data were analyzed using R software for statistical analysis. Results The average age of the regular male blood donors was 45 years with a standard deviation of 10.5. Among the 130 regular blood donors, 28 individuals (21.54%) were homozygous for the T/T allele, 29 individuals (22.31%) were homozygous for the C/C allele, and 73 individuals were heterozygous for the C/T allele. No significant association was observed between the rs855791 single nucleotide polymorphism and iron assessment indicators. Conclusions Single nucleotide polymorphism of TMPRSS6 gene (rs855791 v736A) was not associated with iron level and related quantities in regular blood donors. [ABSTRACT FROM AUTHOR]

Background and Objectives HIV virus and its subsequent disease is one of the most important challenges of the world health system. Although antiretroviral therapy (ART) is a breakthrough in patients’ life quality, it has complications like side effects. The side effect causes are diverse. One of the factors considered about side effects is genes polymorphism. This study investigates the relationship between rs2712816 and rs949096 polymorphisms on SLCO2B1 gene which is one of the most important antiretroviral drugs transporters. Materials and Methods In this Cross-sectional study, the two variants, rs2712816 and rs949096 were genotyped on 161 samples of HIV-1 infected patients. Consequently, the records of patients in Imam Khomeini Behavioral Diseases Center were reviewed and necessary data were collected. Statistical analysis was done by chi-square, exact Fisher test, and Mann Whitney U test using SPSS 26.0. Results The results show that there is a significant relationship between AA genotype in rs949069 polymorphism and dizziness and urticaria in patients (p< 0.05). The rs2712816 polymorphism and side effects did not show any significant relationship. Conclusions There are different factors involved in antiretroviral therapy side effects. According to the results of this study, the rs949069 is one of the factors. [ABSTRACT FROM AUTHOR]

Background and Objectives The HLA-G antigen is a non-classical HLA class-I with limited polymorphism. Several studies have indicated the role of a 14 bp Indel polymorphism rs371194629 in the 3'-UTR region of the HLA-G in acquisition of HTLV-1 infection. In this study, we investigated the correlation between the genotypes of this polymorphism and HTLV-1 infection in blood donors of Khorasan Razavi province. Materials and Methods In this analytical study, a total of 131 healthy individuals and 131 HTLV-1 positive patients were analyzed. After DNA extraction, the genotypes of the polymorphism were determined by PCR-SSP method. Statistical analysis was performed with chi-squared test using SPSS version 23 software. Results The DI was the most frequent genotype in both groups (49.6% of controls and 40.3% of patients). The DD genotype was associated with increased risk of HTLV-1 infection (OR=1.89, 95% CI=1.14-3.11, p=0.03). There was no significant difference between the frequency of D and I alleles in both groups. Conclusions Our findings confirm previous results about the significance of HLA-G polymorphisms in susceptibility to infectious diseases including HTLV-1. Further investigations could reveal the underlying mechanisms. [ABSTRACT FROM AUTHOR]

Background and Objectives Human T-cell lymphotropic virus type 1 (HTLV-1) requires cell-to-cell communication to cause infection. The increase in the number of cells infected with virus in turn increases the likelihood of virus transmission and progression of disease. Host immune system responses and genetics factors can affect the susceptibility to virus. Thus, in this study, for the first time the polymorphism in PD-1 gene promoter, which is involved in the negative regulation of immune responses, was evaluated in the HTLV-1 asymptomatic carriers and the healthy controls in the Iranian population in 2020. Materials and Methods In this case-control study, genomic DNAs of 81 HTLV-1 asymptomatic carrier blood donors and 162 healthy blood donors in Khorasan Razavi province were extracted and the rs36084323 polymorphisms were genotyped with PCR- RFLP method. To confirm the genotyping results, PCR products were sequenced. The results were analyzed using SPSS-22 statistical software based on chi-square test. Results The frequencies of G and A alleles of rs36084323 polymorphism were 75% and 25% in the control group and 79.6% and 20.4% in the case group, respectively. Considering the G allele as a reference there was no significant difference between the case and control groups (p = 0.256). Conclusions The results of this study showed that there is no association between G/A in single nucleotide polymorphism of rs36084323 with susceptibility to HTLV-1 virus infection in the Iranian population. [ABSTRACT FROM AUTHOR]

Background and Objectives The FUT3 gene regulates the expression of Lewis blood group antigens mainly Lea and Leb. The Lewis negative phenotype, is the result of an inactivated FUT3 enzyme that lacks glycosidase activity. Several single nucleotide polymorphisms (SNPs) may cause enzyme inactivation with different racial distribution. This study aimed to determine the frequency of these SNPs in Iranian blood donors. Materials and Methods In this cross sectional descriptive study, one hundred blood donors from Tehran Blood Transfusion Center were analyzed. Genomic DNA was extracted and the coding sequence of FUT3 gene was amplified with specific primers. PCR products were directly sequenced. Haplotypes were inferred by SNP Analyzer software. Results A total of 15 SNPs including 10 nonsense SNPs were recognized. The frequency of most common SNPs was detected as 39%(202T>C), 37%(314C>T), 20%(59T>G), 9%(508G>A), and 8%(47G>C). Haplotype analysis revealed 13 haplotypes. The frequency of major haplotypes was detected as 66.2%(Le), 17.5%(le202,314), 4.3 %(le47,202,314), 4.1 %(le59), and 3.4%(le59,508). Conclusions Our findings indicate that 202T > C, 59T > G and 508G > A are useful as major SNPs for detection of Lewis-negative alleles in genotyping of Lewis blood groups; they can also play an effective role in large-scale studies associated with diseases in our population. [ABSTRACT FROM AUTHOR]

Background and Objectives In Iran, Khorasan province is an endemic area for HTLV-1 virus. Considering the inability of serological tests to determine HTLV-1 in window period, their failure to confirm the indetermination results of western blot, and given the probability for HTLV-1 transfusion transmission, a SYBR green-based Real Time PCR was set to measure the HTLV-1 proviral load. Materials and Methods In this experimental study, using a cloning method and drawing a standard curve, the Real - Time PCR test was run to determine the HTLV-1 proviral load. At first, genomic DNA was extracted from peripheral blood mononuclear cells. Then, the PCR product of the Tax gene was placed in a cloning vector and recombinant plasmid was diluted by drawing a standard curve and a real-time PCR test was conducted using SYBR Green method. Results Cloning was performed using PCR product for tax gene, pTZ57/T vector, and E. coli (TG1 strain). Cloning accuracy was confirmed with Colony PCR and sequencing and used as the Real-Time PCR test standard. The standard curve was drawn with serial dilutions of recombinant plasmid containing Tax-1 gene. The slope of the standard curve was 3.3 and R2 = 0.99 which indicates the linearity and efficiency of the test reaction. Conclusions Real - Time PCR method is an appropriate method to measure HTLV-1 proviral load. [ABSTRACT FROM AUTHOR]