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Background and Aim: Age-related hearing loss (ARHL) is thought to be linked to an increase in oxidative stress in the cochlea. Glutathione S-transferase enzymes (GSTs) play a crucial role as antioxidant enzymes in the cochlea. The aim of this study was to evaluate the association between the rs4891 polymorphism in the GSTP1 gene and the risk of ARHL. Methods: This case-control study involved the examination of 90 individuals with ARHL and 100 healthy individuals. Genomic DNA was extracted from blood samples, and the PCR-RFLP technique was used to determine the genotypes of the GSTP1-rs4891 polymorphism. Logistic regression analysis was conducted to investigate the relationship between genotypes and the risk of ARHL. The odds ratio and 95% confidence interval were calculated. Results: The results showed that the TC and CC genotypes were not found to be associated with the risk of ARHL. However, analysis using the dominant model revealed that C allele carriers were at a higher risk of ARHL (P=0.032, 95% CI=0.94-3.23, OR=1.882). Allelic analysis also indicated an association between the C allele and ARHL (P=0.019, 95% CI=1.09-2.65, OR=1.700). Moreover, the CT (P=0.0181, 95% CI=7.8927-1.2127, OR=3.0938) and CC (P=0.0029, 95% CI=64.6308-2.3695, OR=12.3750) mutant genotypes were associated with an increased risk of ARHL with increasing age. Conclusion: The findings suggest that the GSTP1-rs4891 polymorphism may serve as a molecular risk factor for ARHL, particularly in older individuals. However, further studies with larger sample sizes are warranted to validate these findings.

Genetic diversity in cytokines such as interleukin α1 and interleukin 1β is involved in altering the immune response in inflammatory diseases such as chronic periodontitis and changes the risk of this disease. The aim of this study was to investigate the association of genetic polymorphisms 4845G> T interleukin 1α and 3954C> T interleukin 1β with the risk of chronic periodontitis.Materials & Methods:Participants including 133 healthy individuals and 133 individuals with chronic periodontitis referred to Isfahan Dental School, were included in the study. The genotype of blood samples at the site of the above polymorphism was determined by PCR-RFLP method. The relationship between the studied polymorphisms and chronic periodontitis was calculated by logistic regression test. Statistical analyzes were performed by SPSS software. The p value level < 0.05 was statistically significant.Results:Data analysis showed a significant relationship between CT and TT genotypes and T allele of polymorphism 3954C> T interleukin 1β and increased risk of chronic periodontitis and no significant relationship between polymorphism 4845G> T of interleukin 1α and the risk of Showed chronic periodontitis.Conclusion:Based on the above data, T> 3954C polymorphism is a risk factor for chronic periodontitis and serves as a potential biomarker for screening people prone to this disease.

Background: lumbar disc degeneration is a multifactorial degenerative disease which is affected by genetic inheritance and environmental factors. Type XI collagen is important for organization of the extracellular matrix and cartilage collagen construction. Rs1676486 is a SNP that causes the conversion of C-T, resulting in a change in the expression of the collagen 11 alpha chain. The T allele reduces the alpha 1 chain transcription of collagen 11 and ultimately leads to an imbalance in gene expression. Methods: This study aims to determine the genetic variant of alpha1 type11 collagen is associated with the progress of intervertebral disc degeneration. All patients were selected from the AL-Zahra Hospital of medical university of Isfahan, Iran, between April 2016 and September 2017. SNP rs1676486 of alpha1 type11 collagen was genotyped in 100 patients and 100 healthy controls. The inclusion criteria for patients were: individuals who had typical clinical and imaging symptoms and signs of intervertebral disc degeneration. Exclusion criteria were: patients with trauma, metabolic and neuromuscular diseases, and congenital disorder of the spine. The Genomic DNA was extracted from peripheral blood samples by a Whole Blood Genomic DNA Extraction Kit. The chi-square test and fisher’s exact test were evaluated to determine differences of genotype and allele distributions between intervertebral disc degeneration patients and healthy controls. To compare the relationship between genotypes and clinical features the Mann-Whitney U test was used. Results: The mean age was 39.54±9.52 years for the patients and 28.14±5.32 years for the controls, respectively. The mean BMI were 26.3±3.18 kg/m2 and 27.3±3.52 kg/m2 for the patients and the controls, respectively. In addition, the results showed that the prevalence of surgical disc in patients with L4-L5 levels was 52.1% and L5-S1, with 31.1%. This study showed, rs1676486 in alpha1 type11 collagen gene was associated with modified intervertebral disc degeneration at age ≤50 years and this gene increases intervertebral disc degeneration risk at age >50 years. SNP rs1676486 had the significant association with the intervertebral disc degeneration (P=0.019), and patients were found to have higher frequency of AA than the controls. Conclusion: This observation shows that type XI collagen is related to age and genetic factor in intervertebral disc degeneration disease.

Background: Multiple sclerosis (MS) is a common disease of the central nervous system, and the incidence of this disease in women is twice that of men. Considering the importance of miRNA polymorphisms in the expression and function of mRNAs as well as the risk of disease, this study investigated the association of rs6977848 polymorphism (a genetic variant in 19-nucleotide downstream of miR-148a coding gene) with the risk of MS disease in Isfahan City population in Iran, for the first time. Methods: In this case-control study, a population of 95 healthy individuals and 99 patients were assayed. The genotype of the individuals for the polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). To confirm the results, a number of samples were sequenced. Then, the frequency of genotypes and alleles were evaluated. Findings: Considering the total dominance of T allele, the total TT and TG genotypes significantly increased the susceptibility to MS disease compared with the GG reference genotype [odds ratio (OR) = 2.27, P = 0.043); while considering the genotype GG as reference genotype, there was a significant difference between the TG and the reference genotypes in this population with a risk of disease (P < 0.050). However, no significant difference was observed between genotype TT and GG genotype as reference genotype. Conclusion: Findings indicate that rs6977848 polymorphism in miR-148a coding gene downstream may be effective in influencing the performance of this miRNA as well as its expression level. Moreover, the incidence of the ability of individuals to affect this disease is not significantly related to the incidence of disease in the studied populations.

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:lumbar disc degeneration is a multi factorial degenerative disease which is affected by genetic inheritance and environmental factors. Type XI collagen is important for organization of the extracellular matrix and cartilage collagen construction. Rs1676486 is a SNP that causes the conversion of C-T, resulting in a change in the expression of the collagen 11 alpha chain. The T allele reduces the alpha 1 chain transcription of collagen 11 and ultimately leads to an imbalance in gene expression.Methods:This study aims to determine the genetic variant of alpha1 type11 collagen is associated with the progress of intervertebral disc degeneration.All patients were selected from the AL-Zahra Hospital of medical university of Isfahan, Iran, between April 2016 and September 2017. SNP rs1676486 of alpha1 type11 collagen was genotyped in 100 patients and 100 healthy controls.The inclusion criteria for patients were: individuals who had typical clinical and imaging symptoms and signs of inter vertebral disc degeneration. Exclusion criteria were: patients with trauma, metabolic and neuro muscular diseases, and congenital disorder of the spine. The Genomic DNA was extracted from peripheral blood samples by a Whole Blood Genomic DNA Extraction Kit.The chi-square test and fisher’s exact test were evaluated to determine differences of genotype and allele distributions between inter vertebral disc degeneration patients and healthy controls. To compare the relationship between genotypes and clinical features the Mann-Whitney U test was used. Results:The mean age was 39.54±9.52 years for the patients and 28.14±5.32 years for the controls, respectively. The mean BMI were 26.3±3.18 kg/m² and 27.3±3.52kg/m² for the patients and the controls, respectively. In addition, the results showed that the prevalence of surgical disc in patients with L4-L5 levels was 52.1% and L5-S1, with 31.1%. This study showed, rs1676486 in alpha1 type11 collagen gene was associated with modified inter vertebral disc degeneration at age ≤50 years and this gene increases inter vertebral disc degeneration risk at age >50 years. SNP rs1676486 had the significant association with the inter vertebral disc degeneration (P=0.019), and patients were found to have higher frequency of AA than the controls. Conclusion: This observation shows that type XI collagen is related to age and genetic factor in intervertebral disc degeneration disease. [ABSTRACT FROM AUTHOR]

Background: Genetic variants affect the expression of microRNAs (miRNA) resulted in changes in the expression levels of the miRNA target genes that may lead to the increased risk of cancer. The aim of the current study was to investigate the association between the common single-nucleotide gene polymorphism T < C (rs11614913) in MIR196A2 and the risk of developing prostate cancer (PCa) in Chahar Mahal and Bakhtiari Province, Iran. Methods: In this case-control study, 99 patients were enrolled in the case group and 100 healthy controls in the control group. From all participants, 5 ml venous blood sample was collected and DNA was extracted by phenol-chloroform extraction. Specific primers were designed for rs11614913 polymorphism, and this polymorphism was genotyped using High Resolution Melt (HRM) analysis. Hardy-Weinberg equilibrium for the genotypes was tested by chi-squared test. The association between different genotypes and the risk of prostate cancer was investigated by logistic regression analysis. Findings: Among 99 patients, 68 had prostate cancer and 31 had benign prostatic hyperplasia (BPH). Logistic regression analysis showed that those cases with CC genotype had a higher risk of developing prostate cancer [Odds ratio (OR) = 1.08] than T (TT+CT) carriers. Allele frequency analysis revealed that the C allele increased the risk of developing prostate cancer and BPH 1.3 more than T allele. Conclusion: The C allele in rs11614913 polymorphism increases the risk of prostate cancer. Because this polymorphism is present in MIR196A2 gene, evaluation of expression of the miRNA gene and its target genes in patients with prostate cancer could be valuable.

Background: Systemic lupus erythematous (SLE) is a chronic disease with unknown etiology which can involve different body organs. Polymorphism in Fcγ receptors have been identified as a genetic susceptibility factor to SLE and other autoimmune diseases. This study aimed to identify FcγRIIB genotype in rs10550501 and FcγRIIIA genotype in rs396991, as well as their association with SLE Disease Activity Index (SLEDAI). Methods: Eighty clinically diagnosed patients with SLE based on the American College of Rheumatology (ACR) criteria were included. High-resolution melt-polymerase chain reaction (HRM-PCR) method was used to detect FcγRIIB and FcγRIIIA polymorphism. Disease activity was assessed using SLEDAI. Data were analyzed using SPSS software. Findings: Of the eighty patients, 90% were women, and 10% were men. Minimum and maximum SLEDAI scores were 0 and 51, respectively, with a mean of 21.1. Among the patients with SLE, FcγRIIB frequency was 37.5 % for TT genotype and 31.25% for CT and CC genotypes. There was no significant association between FcγRIIB genotype and SLEDAI (P = 0.557). FcγRIIIA frequency was 47.5% for TT, 31.25% for CT, and 21.25 for GG genotype. There was a significant association between FcγRIIIA polymorphism and SLEDAI (P = 0.029). Conclusion: The genotypes in rs1050501 position do not have any effect on SLE disease severity. TG genotype in rs396991 has a protective effect in SLE.

Background: The injuries in osteoarthritis are mediated by various cytokines, growth factors, and inflammatory factors and the importance of the interleukin 17 family in this disease is increasingly evident. The aim of this study was to investigate the association between interleukin 17F rs763780 gene variation and the risk of knee osteoarthritis. Materials and Methods: In this case-control study, 200 participants including 100 healthy individuals and 100 patients with knee osteoarthritis referred to Shahid Beheshti hospital were enrolled. The blood samples of the participants were collected and genotypes of the samples in the polymorphic region were detected by PCR-RFLP. Results: Results showed that there was a significant association between the genotype AG and an increased risk of knee osteoarthritis (OR=3.49, 95%CI=1.48-8.25, P

Background: Migraine is a common neurodegenerative disorder, and the loss of the function of several genes in the serotonergic system is involved in the susceptibility to this disease. In this study, the association of the functional polymorphism of A1438G single nucleotide in the promoter of the 5-HT2A receptor gene with migraine susceptibility was studied. Methods: Genomic DNA was extracted from blood samples of 109 patients with migraine and 107 healthy individuals. Then, the fragment of the promoter of the HTR2A gene, which contained A1438G polymorphism, was amplified using polymerase chain reaction (PCR) technique. To determine the genotype of each individual, the product of polymerase chain reaction was digested with MspI enzyme. Findings: Genotype AA increased the risk of migraine disease by two folds (P = 0.03). Moreover, allele A increased the risk of migraine significantly (P = 0.01). Conclusion: Based on the results of this study, it is suggested that the genotype AA in the A1438G single nucleotide of the HTR2A receptor gene can increase the risk of migraine disease, which may be due to the effect of allele A on enhancement of promoter activity, receptor expression, and consequently, the effect of it on the contraction of the vessels that is present in migraine headaches.

Background and purpose: Gastric cancer is the second most common cause of cancer worldwide and despite huge advances in treatments, the chance of survival is very low even in surgery cases. Having a genetic predisposition plays an important role in cancer development. Polymorphisms in the NQO1(NAD(P)H Quinone dehydrogenase 1) gene could affect the activity of the gene and also the susceptibility to gastric cancer. The aim of this study was to evaluate the effect of the polymorphism of NQO1 gene on gastric cancer. Materials and methods: This case-control study was performed in 100 patients with gastric cancer and 100 healthy individuals as benchmarks. Genomic DNA was extracted from peripheral blood leukocytes. Then, genotyping for detecting NQO1 -609 C>T promoter gene polymorphism was carried out using PCR-RFLP. Data analysis was performed in MedCalc V9. Results: NQO1 rs1800566 allelic and genotypic frequencies were not significantly different between the patients and controls (P= 0.14، χ2= 2.16( Conclusion: Screening of -609C>T NQO1 polymorphism was not found as a useful marker in detecting personal sensitivity to gastric cancer, therefore, would not be helpful in gastric cancer prevention and treatment processes.

Background: The CYBA (Cytochrome B-245 Alpha Chain; p22phox) gene encodes an essential subunit of NADH/NADPH-oxidase This enzyme expressed in smooth muscle cells of arterieswhich produces the active oxygen species. On the other hand oxidative stress has a significant role in the pathogenesis of coronary artery disease (CAD). The aim of this study was to investigate the association of rs7195830 (c.*49T>C) and rs9932581 (c.-930G>A) polymorphisms in CYBA gene with coronary artery disease in an Iranian population. Materials and Methods: In this case-control study, citrated blood samples were obtained from 180 subjects including 85 patient with CAD and 95 healthy people. The fragments containing rs7195830 and rs9932581 of CYBA gene from extracted genome were amplified by polymerase chain reaction. Then the genotype of samples was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genetic association analysis was assessed by logistic regression test. Results: Data analysis of c.-930G>A polymorphism revealed a significant association between AA genotype and risk of CAD (OR: 2.71, 95%CI: 1.04-7.06, p= 0.041). Also, allelic analysis revealed that there was a significant association between A allele and CAD risk (OR: 1.65, 95%CI: 1.05-2.57, p=0.029), while there was no significant association between c.*49T>C polymorphism and risk of CAD. Conclusion: Findings showed that, the c.-930G>A polymorphism may have some role in the susceptibility to CAD. which it can consider as a potential biomarker in further researches.

Introduction: ApoAI, is the main protein of HDL and its gene is a member of apoAI-CIII-AIV gene cluster on chromosome 11q23-q24. In some studies, association of PstI polymorphism with dyslipidemia has been reported. This study was designed to investigate the frequency of rare allele (P2) of apoAI gene PstI polymorphism and its association with serum lipids levels in an Iranian population (Semnan city). Materials and Methods: In a case-control study genomic DNA was extracted from whole blood of 76 Iranian hyperlipidemic patients [total cholesterol (TC) > 200 mg/dL, triglyceride (TG) > 150 mg/dL] and 75 healthy control subjects (TC < 200 mg/dL and TG < 150 mg/dL) The PstI polymorphism was analyzed by PCR-RFLP. Results: The frequencies of the PstI polymorphism minor allele (P2) were 22.14 and 14.7 in the case and control groups respectively (P>0.05). In the case group, patients with P2P2 genotype had lower serum HDL-c and apoAI, compared those with P1P1and P1P2 genotypes (P> 0.05). Conclusion: Considerably, the presence of the rare P2 allele was not associated with lipid levels in the studied population. The association between the polymorphisms and dyslipidemia is quite complicated. We propose evaluation of PstI polymorphism with other polymorphic sites in the apoAI-CIII-AIV gene cluster

Background: Breast cancer is the most common malignancy in women and is the first cause of death among the women in the world. Disruption of gene expression of src family members has been observed in many cancers. Repeated sequences in introns influence gene expression, splicing or change the structure of product. In the present study, the association between CA polymorphism in intron 2 of the src gene and the risk of breast cancer was investigated. Methods: This was a cohort study on 119 patients with breast cancer and 145 healthy people. Genomic DNAs were extracted from white blood cells. CA dinucleotide region of the src gene was amplified via polymerase chain reaction (PCR) technique and the number of CA repeats was determined using polyacrylamide gel electrophoresis. Findings: Distribution of the CA repeats in src gene in the target population was between 14-27 repeats. The most common allele in two groups was 21. The frequency of the allele 22 in patients was significantly higher than healthy group. 26 genotypes were identified and the genotype 21/21 was the most common one among the two groups. The genotype 22/22 was more frequent in patients than in healthy group. Chi-square test and odds ratio (OR) showed that women with allele 22 were exposed more to breast cancer. Women with genotype 22/22 had a higher risk of developing breast cancer. Conclusion: it can be concluded that the allele 22 can have a role in developing breast cancer.

Background: Red Blood Cell's (RBC)’s folate may be related to decreased risk of colorectal adenoma. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate metabolism. The MTHFR C677T polymorphism is located in the Exon 4 region and is associated with the change of folate level. This study evaluated the associations between RBC’s Folate levels and colorectal adenoma risk, taking into account whether this associations is modified by MTHFR Polymorphism. Methods: In a case-control study conducted from January to October 2007 in Endoscopy-Colonoscopy ward of Shahid Faghihi Hospital, Shiraz. Participants were 177 case of colorectal adenoma who had pathologic-confirmed adenomatous polyps in full colonoscopy examination and 366 controls without polyps in full colonoscopy. Fasting venous blood were drawn from patients in order to determine RBC’s folate and to identify the MTHFR polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Gender Distribution in the patient group were 57.6% male and 42.3% female and control group consisted of 55.1% male and 43.9% female. 50.2% of cases and 49.2% of controls were in the age group “45 years and above”. The T allele frequency was 56.6% in control group and 34.4% in colorectal adenoma patients. There was a significant association between T allele in -677 position of MTHFR gene and colorectal adenoma susceptibility (OR: 1.85, 95% CI: 0.76-4.24, P0.05) but mean concentration of RBC’s folate was the lowest in TT genotype compare with two other genotype. Odd's Ratio for low (

Background and purpose: Gastric cancer is the second most common cause of cancer worldwide and despite huge advances in treatments, the chance of survival is very low even in surgery cases. Having a genetic predisposition plays an important role in cancer development. Polymorphisms in the NQO1(NAD(P)H Quinone dehydrogenase 1) gene could affect the activity of the gene and also the susceptibility to gastric cancer. The aim of this study was to evaluate the effect of the polymorphism of NQO1 gene on gastric cancer. Materials and methods: This case-control study was performed in 100 patients with gastric cancer and 100 healthy individuals as benchmarks. Genomic DNA was extracted from peripheral blood leukocytes. Then, genotyping for detecting NQO1 -609 C>T promoter gene polymorphism was carried out using PCR-RFLP. Data analysis was performed in MedCalc V9. Results: NQO1 rs1800566 allelic and genotypic frequencies were not significantly different between the patients and controls (P= 0.14 ،χ2= 2.16) Conclusion: Screening of -609C>T NQO1 polymorphism was not found as a useful marker in detecting personal sensitivity to gastric cancer, therefore, would not be helpful in gastric cancer prevention and treatment processes. [ABSTRACT FROM AUTHOR]

Background: The CYBA (Cytochrome B-245 Alpha Chain; p22phox) gene encodes an essential subunit of NADH/NADPH-oxidase This enzyme expressed in smooth muscle cells of arterieswhich produces the active oxygen species. On the other hand oxidative stress has a significant role in the pathogenesis of coronary artery disease (CAD). The aim of this study was to investigate the association of rs7195830 (c.*49T>C) and rs9932581 (c.-930G>A) polymorphisms in CYBA gene with coronary artery disease in an Iranian population. Materials and Methods: In this case-control study, citrated blood samples were obtained from 180 subjects including 85 patient with CAD and 95 healthy people. The fragments containing rs7195830 and rs9932581 of CYBA gene from extracted genome were amplified by polymerase chain reaction. Then the genotype of samples was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genetic association analysis was assessed by logistic regression test. Results: Data analysis of c.-930G>A polymorphism revealed a significant association between AA genotype and risk of CAD (OR: 2.71, 95%CI: 1.04-7.06, p= 0.041). Also, allelic analysis revealed that there was a significant association between A allele and CAD risk (OR: 1.65, 95%CI: 1.05-2.57, p=0.029), while there was no significant association between c.*49T>C polymorphism and risk of CAD. Conclusion: Findings showed that, the c.-930G>A polymorphism may have some role in the susceptibility to CAD. which it can consider as a potential biomarker in further researches. [ABSTRACT FROM AUTHOR]

Background & Objectives: Visceral thrombosis especially hepatic vein thrombosis deteriorates the disease in cirrhotic patients. Thrombophilic genotypes are seen in most cirrhotic patients with portal vein thrombosis. The aim of this study is the comparison of thrombophilic genes frequency in cirrhotic patients with splanchnic veins thrombosis versus cirrhotic patients without thrombosis. Materials & Methods: In a case - control study, we studied 100 patients with hepatic cirrhosis in Tabriz Imam Reza hospital after achieving inclusion criteria in the form of two groups (with and without visceral veins thrombosis). The frequency of genetic polymorphism of thrombophilia in two groups of cirrhotic patients was assessed. Results: The mean age of the patients was 48.1±18.1 years which were in the range of 15 to 85 years. 51 (51%) of patients were male and 49 (49%) were female. Thrombosis was present in portal vein in 24% of patients, in superior mesenteric vein in 7% of patients, in splenic vein in 14% and in 5% of patients in potal and splenic veins. There was no significant difference between two groups in G20210A, C677T, A1298C and PAI-I genes polymorphism (P=0.82, P=0.70, P=0.78 respectively). Conclusion: With regard to the non-significant difference in frequency of thrombophilic gene polymorphism in two groups, we cannot assume prophylactic actions in cirrhotic patients for visceral vein thrombosis but we recommend more multicentric studies with more number of cases for clarifying the topic. [ABSTRACT FROM AUTHOR]

Background& Objective: Host resistance towards Leishmania infection is mediated by cellular immune responses leading to macrophage activation and parasite killing. According to the important role of IL-13 in the defense against visceral leishmaniasis (VL) and the known effect of the IL-13 gene polymorphisms on its production, the aim of this study was to investigate the probable relationship between IL-13 gene polymorphisms and susceptibility to VL. Materials & Methods: The patient group included 52 patients who had suffered from VL infection and the control group consisted of 104 non-relative healthy people from the same endemic areas the patients were from (southern part of Fars Province). IL-13 (position -1512 A/C) gene polymorphism was determined by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP). Results: There was no significant association between the frequencies of IL-13 (-1512) alleles and genotypes in the patients with VL compared to the thenormal population. Conclusion: This study indicated that the IL-13 (position -1512 A/C) genotypes cannot be considered as a genetic susceptibility factor for leishmaniasis.

Introduction: Survivin gene, as an apoptosis inhibitor, plays an important role in development of breast cancer. The differential expression of survivin in cancer versus normal adult cells as well as an association between high expression of survivin and aggressive tumors has led to use of survivin as a molecular marker for diagnosis and prognosis of tumors. The underlying mechanism of survivin over expression in cancers is not recognized yet. There is a probability that some polymorphisms in this gene can result in uncontrolled manner of this gene. The C-31G, a widely studied polymorphism in the survivin promoter, could de-repress the cell cycle- dependent transcription of survivin gene, resulting in over expression of survivin. In this hospital- based, case- control study, we aimed to investigate the correlation between the genetic polymorphism of -31G/C, surviving promoter, and breast cancer (BC) in North West of Iran. Methods: In this case–control study, the -31G/C single nucleotide polymorphism (SNP) of survivin promoter in peripheral blood samples was collected from 94 breast cancer patients with pathologically confirmed BC and 82 healthy subjects. The data were analyzed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and gene sequencing. Results: Statistical analysis showed that within breast cancer patients, genotype frequencies were 50%, 46.8% and 3.2% for -31G/G, -31G/C and -31C/C genotypes respectively, whereas they were 50%, 45.1% and 4.9 % for -31G/G, -31G/C and -31C/C genotypes in healthy individuals. Also the frequencies for -31 C allele were 26% and 27% in the cases and controls respectively. No statistically significant association was found between breast cancer and the variant genotypes (CC and CG). Conclusion: It seems that there was no significant association between -31G/C polymorphism, BC, and clinicopathological characteristics in the population of our study.

BACKGROUND AND OBJECTIVE: The bioavailability of IGF1 is regulated by the insulin-like growth factor binding protein 3 (IGFBP3). IGFBP3 is an inhibitor of IGF1 and inhibits growth cell and induces apoptosis by joining to it. Some studies have shown that reduction of IGFBP3 level cause to increase risk of colorectal cancer (CRC). The purpose of this study was to investigate incidence of mutant allele of IGFBP3 polymorphism rs2854744 in Iranian community and to examine the association of genetic variants in IGFBP3 (rs2854744) with risk of colorectal cancer.METHODS: In this case-control study, genotyping of IGFBP3 gene were determined in series of 120 colorectal cancer patients (with positive result for colonoscopy and pathology) and 120 controls (with negative result for colonoscopy and pathology ) by using polymerase chain reaction and restriction fragment length polymorphism genotyping assay (PCR-RFLP) and compared.FINDINGS: Frequency of CC, CA and AA genotype in patients in IGFBP32854744 was 33.3%, 47.5% and 19.2%, and frequency for controls was 34.2%, 45.8%, and 20%, respectively. Frequency of C allele in patients was 0.57% and for A allele was 0.42%. Also frequency of C allele in controls 0.57% and in A allele was 0.42% that no significant difference was seen. CONCLUSION: These findings suggest that polymorphism IGFBP3 rs 2854744, is not associated with increased risk of CRC.

BACKGROUND AND OBJECTIVE: Breast cancer is most common cancer among women in the world and one third women affected by this cancer. P53 gene is one of the most important tumor suppressor genes. Investigations show G to C polymorphism at codon 72 of p53 gene, is associated with the increasing of cancer, and perhaps it can be regarded as a predisposing marker for breast cancer. This study was done to assess the association of p53 Arg/Pro polymorphism at codon 72 with risk of breast cancer in women.METHODS: This case-control study was conducted on 126 patients with invasive and insitu, as well as 99 control individuals as controls from Tabriz hospitals, DNA extraction was conducted using proteinase K method, different genotype of codon 72 of gene p53 were determined using allele-specific polymerase chain reaction (PCR) and direct DNA sequencing and compared. FINDINGS: In the control group, the genotype distribution of p53 polymorphism, showed 30.3%, 50.5% and 19.2% for the Arg/Arg, Arg/Pro, Pro/Pro Genotypes, respectively. In the cancer group, the distribution was 44.4%, 34.9% and 20.6% for the Arg/Arg, Arg/Pro and Pro/Pro genotypes, respectively. Distribution differences in the p53 codon 72 polymorphism between the cases and controls were statistically significant (p

Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal" mso-tstyle-rowband-size:0 mso-tstyle-colband-size:0 mso-style-noshow:yes mso-style-priority:99 mso-style-qformat:yes mso-style-parent:"" mso-padding-alt:0cm 5.4pt 0cm 5.4pt mso-para-margin:0cm mso-para-margin-bottom:.0001pt mso-pagination:widow-orphan font-size:11.0pt font-family:"Calibri","sans-serif" mso-ascii-font-family:Calibri mso-ascii-theme-font:minor-latin mso-fareast-font-family:"Times New Roman" mso-fareast-theme-font:minor-fareast mso-hansi-font-family:Calibri mso-hansi-theme-font:minor-latin mso-bidi-font-family:Arial mso-bidi-theme-font:minor-bidi} Background: Gastric cancer is one of the most common diseases of digestive system with a low 5-year survival rate and metastasis is the main cause of death. Multi-factors, such as changes in molecular pathways and deregulation of cells are involved in the disease development. Epidermal growth factor receptor pathway (EGFR) which is associated with cell proliferation and survival can influence cancer development. EGFR function is governed by its genetic polymorphism thus, we aimed to study the tyrosine kinase domain gene mutations of the receptor in patients with gastric cancer.Methods : In this experimental study, 123 subjects (83 patients with gastric cancer and 40 normal subjects) were investigated in north of Iran for EGFR gene polymorphisms during 1 year. Genomic DNA was extracted by DNA extraction kit according to the manufacture's protocol. Polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) and silver staining were performed for investigating EGFR gene polymorphisms. Results : The participants included 72 men and 44 women. Gene polymorphism in exon 18 was present in 10% of the study population but SSCP pattern in exon 19 did not show different migrate bands neither in patients nor in normal subjects.Conclusion: It seems that screening for tyrosine kinas gene polymorphism of epidermal growth factor receptor in patients with gastric cancer and use of tyrosine kinas inhibitors could be useful in the prevention of disease progress and improvement of treatment process for a better quality of life in these patients.

"nBackground: Pi-GST and Mu-GST are subclasses of glutathione S-transferase that present on human sperm surface and play an important role against oxidative stress. Therefore, any defects in the enzyme activity may be associated with male infertility.In this study the polymorphisms of GSTM1 and GSTP1 in association with enzyme activity and sperm parameters were studied. "nMethods: This case-control study involved 95 men with oligoastenoteratozoospermia and 26 controls with normozoospermia. Semen analyses were carried out according to WHO guidelines. Blood DNA was extracted using salting out procedures. GSTM1 and GSTP1 polymorphisms gene were determined through PCR-RFLP and multiplex PCR, respectively. Finally, Glutathione S-transferase activity was measured. "nResults: Frequencies of GSTM1 null genotype in oligoastenoteratospermic and normospermic groups were 52.1% and 53.8% respectively. There were no statistically significant differences in sperm parameters and enzyme activity between GSTM1 null and positive genotypes in two groups. There were no statistically significant differences in glutathione S-transferase activity between oligoastenoteratospermia and normospermic groups (p>0.05). All the 121 men in this study had Ile/Ile genotypes at 105 codon of GSTP1. Frequency of normal homozygote (114Ala/Ala), heterozygote (114Ala/Val) and mutant homozygote (114Val/Val) genotypes in oligoastenoteratospermic group were 81.1%, 17.9% and 1.1% respectively but in the control group they were 88.5%, 11.5% and null. "nConclusions: Total glutathione S-transferase activity and sperm parameters were not affected by deficient Glutathione S-transferase activity in GSTM1 null genotype. Compensate activity of other sperm surface glutathione S-transferase isozymes, like GSTP1, may justify the cause.

Background: Brucella spp. is the causative agent of brucellosis. It was clarified that type-1 immunity is important in controlling Brucella infection. In this regard, macrophages have critical roles. Interleukin-10 (IL-10) which is a Th2-type cytokine that inhibits macrophage activation has been inversely associated with the disease severity in human. It is known that production of IL-10 is affected by its gene promoter polymorphisms. In this study, we investigated the relationship between IL-10 gene promoter polymorphisms and susceptibility to brucellosis. Methods: A total of 190 patients with brucellosis and 81 healthy subjects who owned infected animals and consumed their contaminated dairy products were included in this study. All individuals were genotyped for three bi-allelic IL-10 gene promoter polymorphisms at positions -1082(G/A), -819(T/C), and -592(A/C) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The distribution of CC genotypes and C alleles at positions -592 and -819 of IL-10 were significantly higher in patients than in the healthy subjects (P=0.034 and P=0.0086, respectively). IL-10 ATA single and double haplotypes were significantly higher in controls, compared to the patients (P= 0.0278 and P=0.013, respectively). Conclusion: Higher frequency of C alleles at positions -592 and -819 of IL-10 and lower frequency of ATA/ATA haplotype in patients can be considered as genetic factors for susceptibility to brucellosis.

Background & Objectives: Osteoporosis along with decreased bone density can lead to bone structure loss which increases the risk of fractures. Recent identification of genetic factors impels researchers to assess association of genetic variations with osteoporosis. The aim of this study was to evaluate the relationship between FokI and ApaI polymorphisms of vitamin D receptor (VDR) gene and serum calcium level, serum 25-OH vitamin D level and osteoporosis in Iranian postmenopausal women. Materials and Methods: In this study, we included 194 over 50 years old postmenopausal women with osteoporosis and osteopenia and 50 over 50 years old healthy postmenopausal women as the control group. To study the polymorphisms, genomic DNA was extracted from blood samples containing EDTA anticoagulant. Genotyping of FokI and ApaI polymorphisms of VDR gene was performed using PCR-RFLP method. Results: Weight, height, age, serum 25-OH vitamin D, and calcium level were compared in three groups of control, osteopenia, and osteoporosis. The mean of serum calcium level was not significantly different but the means of age, weight, height, and serum 25-OH vitamin D level were significantly different between the patients and control group. Also, the differences in the distribution of FokI and ApaI genotypes were not statistically significant among the patients with osteopenia, osteoporosis and the control group. Conclusion: It seems that there is no association between FokI and ApaI polymorphisms of VDR gene and osteoporosis. [ABSTRACT FROM AUTHOR]

Background and Objectives Beta thalassemia is an autosomal recessive disease. The synthesis of HbF in patients with β-thalassemia seems to ameliorate the severity of symptoms. Materials and Methods In this case control study, 150 β-thalassemia major patients, 34 thalassemia intermedia patients, and 50 healthy individuals as the control were studied. HindIIIG polymorphism in IVSII-I Gγ gene was determined using RFLP-PCR method. HbF levels with electrophoresis method were taken from clinical files. Then, the linkage disequilibrium of this polymorphism with XmnI polymorphism in 5' Gγ gene was determined by D' Power Marker software. Results After data analysis, an association was observed between the A allele and thalassemia intermedia. In the dominant effect of the A allele (comparison between AA+AC vs. CC), AA+AC genotypes associates with intermedia thalassemia (p = 0.014, OR = 9.30, CI(95%) = 1.14-75.9) but there is no association with major thalassemia (p = 0.1, OR = 1, CI(95%) = 0.41-1.19). The means of HbF levels in β-thalassemia major and thalassemia intermedia patients were 94.3 g/dl and 84.4 g/dl, respectively. High linkage disequilibrium was seen between the two polymorphisms. Conclusions It is concluded that A allele may act as a dominant allele and increase disease amelioration. It showed that A allele of HindIIIG polymorphism has a positive effect on HbF level. Furthermore, the A allele of HindIIIG polymorphism is strongly correlated with T allele of XmII polymorphism in thalassemia intermedia patients and C allele of HindIIIG polymorphism is strongly correlated with C allele of XmnI polymorphism in β-thalassemia major. [ABSTRACT FROM AUTHOR]

Background: Red Blood Cell's (RBC)'s folate may be related to decreased risk of colorectal adenoma. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate metabolism. The MTHFR C677T polymorphism is located in the Exon 4 region and is associated with the change of folate level. This study evaluated the associations between RBC's Folate levels and colorectal adenoma risk, taking into account whether this associations is modified by MTHFR Polymorphism. Methods: In a case-control study conducted from January to October 2007 in Endoscopy-Colonoscopy ward of Shahid Faghihi Hospital, Shiraz. Participants were 177 case of colorectal adenoma who had pathologic-confirmed adenomatous polyps in full colonoscopy examination and 366 controls without polyps in full colonoscopy. Fasting venous blood were drawn from patients in order to determine RBC's folate and to identify the MTHFR polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Gender Distribution in the patient group were 57.6% male and 42.3% female and control group consisted of 55.1% male and 43.9% female. 50.2% of cases and 49.2% of controls were in the age group “45 years and above”. The T allele frequency was 56.6% in control group and 34.4% in colorectal adenoma patients. There was a significant association between T allele in -677 position of MTHFR gene and colorectal adenoma susceptibility (OR: 1.85, 95% CI: 0.76-4.24, P<0.001). Mean concentration of RBC's folate was not statistically significant among three groups with TT genotype (mutation homozygote), CT genotype (heterozygote), and CC genotype (wild-type homozygote) (P>0.05) but mean concentration of RBC's folate was the lowest in TT genotype compare with two other genotype. Odd's Ratio for low (<140ng/ml) versus high level of RBC's folate in participants with TT genotype was (OR: 2.08, 95% CI: 0.10-2.19, P<0.05) as compare with the CC ones. Conclusion: The result of this study suggested an inverse association between RBC's folate concentration and colorectal adenomas risk, which may be more relevant for those with the MTHFR TT genotype. [ABSTRACT FROM AUTHOR]

Background: Nitric oxide is synthesized in endothelial cells by eNOS and acts as a pleiotropic regulator involved in carcinogenesis. Most gastric cancers develop from stomach epithelial cells therefore, NO may play a role in their development. Polymorphisms of eNOS have been shown to be associated with cancer susceptibility. In the present study, we investigated the association of the eNOS genotypes with gastric cancer risk in Guilan Population. Materials and Methods: In this case-control study, we analyzed the Glu298Asp polymorphism of eNOS in 87 patients with gastric cancer and 90 healthy controls. The genotyping of eNOS polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism assays. All statistical analyses were conducted by the MedCalc statistical software. Results: No association between the eNOS genotypes and gastric cancer risk was found. Among the 87 patients, 45 had Glu/Glu, 38 were Glu/Asp, and 4 were Asp/Asp. In the control group, 44 had Glu/Glu, 40 were Glu/Asp, and 6 were Asp/Asp. We found no significant differences in allele and genotype frequencies between control and patient specimens. Conclusion: We found that there was no association between this polymorphism and gastric cancer risk. Results suggest that eNOS polymorphism may play a role in inhibition of gastric cancer. However, larger population-based studies are needed for clarifying the role of eNOS polymorphism in gastric cancer. [ABSTRACT FROM AUTHOR]

Background and Objectives Fibrinogen, coagulation factor 1, is a soluble plasma glycoprotein which converts thrombin to fibrin fibers in the coagulation cascade. Various polymorphisms located on beta chain gene, FGB, have been studied. The promoter - G455A (rs1800790) polymorphism had been shown to be significantly associated with fibrinogen plasma levels. In this study, the frequency of rs1800790 polymorphism has been assessed and the correlation was evaluated between this variant and fibrinogen plasma levels. Materials and Methods Whole blood samples were collected for DNA isolation. To perform rs1800790 genotyping, the region encompassing the HaeIII restriction site was amplified using specific primers. The plasma levels of fibrinogen were measured and the obtained data were analyzed by SPSS software. Results The levels of plasma fibrinogen has shown a significant correlation with FGBrs1800790 genotype (p-value = 0.021 ; CI = 0. 347- 3.253). Minor allele frequency was estimated to be 0.28 which was consistent with the predicted value. Conclusions The significant correlation between fibrinogen and FGBrs1800790 genotype emphasizes the importance of this variant in the modulation of fibrinogen plasma concentrations. Since FGBrs1800790 contributes to the gene expression and environmental risk factors, it is important to be noticed in the cardiovascular disease. [ABSTRACT FROM AUTHOR]

Background: Multidrug resistance is the main reason of unsuccessful chemotherapy. The most important cause of drug resistance is ATP dependent pumps such as MDR1 that extrude drugs from the cell. MDR1 gene is highly polymorphic and it seems that these polymorphisms influence the gene expression and response to treatment. The aim of this study was to investigate MDR1 gene C1236T polymorphism and it's association with response to treatment in children with acute lymphoblastic leukemia. Materials & Methods: In this descriptive analytical study, MDR1 gene C1236T polymorphism was investigated in 44 children with acute lymphoblastic leukemia and 40 healthy individuals by ARMS-PCR technique. Association of this polymorphism with response to treatment was also evaluated. Data were analyzed by SPSS software using Chi-square test and p value < 0.05 was considered statistically significant. Results: There was no significant difference in frequencies of C1236T polymorphism between patients and healthy group (p=0.876). Also there was not significant difference about frequency of polymorphism between responders and non responders (p=0.304). Conclusion: It seems that there is no correlation between C1236T polymorphism of MDR1 gene and response to treatment, and the role of this polymorphism in MDR1 gene expression in children with acute lymphoblastic leukemia and response to treatment is still controversial. [ABSTRACT FROM AUTHOR]

Introduction: Periodontal diseases are multifactorial conditions that are induced in the presence of bacteria and under the influence of environmental and genetic factors. Management of environmental factors might help prevent such diseases. The aim of this study was to investigate the relationship between interleukin-1α, β gene polymorphism and chronic periodontitis (CP). Materials and Methods: This case-control study included 36 subjects with chronic periodontitis referred to Periodontology Department of Khorasgan Dental School and 36 periodontally healthy controls, with an ethnic origin of Isfahani Iranian race. Extracted DNA from peripheral blood was used to evaluate interleukin-1α, β gene polymorphism. Data were analyzed using chi-squared and Fisher’s exact tests (α=0.05). Results: There was a significant association between IL-1α -889, 2/2 genotype and CP and between IL-1α -889 allele and periodontal health (p value = 0.03). There was no significant association between IL-1β +3954 genotype and CP (p value = 0.14). There was no significant association between IL-1β +3954 alleles and CP (p value = 0.06). Conclusion: Based on the results of the present study, association between IL-1α -889 polymorphism in the population presented here confirms this gene as a risk factor for CP. However, the lack of any association between IL-1β +3954 polymorphism and CP makes it dubious to use this gene as a marker of susceptibility to CP. [ABSTRACT FROM AUTHOR]

Background and purpose: Gastric cancer is one of the most prevalent cancers with a low-five year survival rate. Some factors such as molecular pathway are associated with the development of disease and metastasis is the most important factor for death. Caspase 9 is initiator CASP of internal apoptosis pathway and have important role in cancer development. Polymorphism of CASP 9 gene promoter could influence the gene activity and cause sensitivity to cancer. Materials and methods: In this case-control study, 100 patients with gastric cancer and 100 normal subjects were considered for caspase 9 promoter gene polymorphism. DNA extraction was performed from white blood cells according to manufacturer protocol. PCR-RFLP was carried out to detect -712 C>T gene polymorphism. Data was analyzed using SPSS V.18 and P<0.05 was considered significant. Results: In the present study 200 subjects including 143 men and 57 women were studied. All subject were well matched for geographic area and race. The results showed a relationship between increase in allele T and gastric cancer (P= 0.095 r=0.0224). Conclusion: Screening of -712C>T caspase 9 polymorphism could be a marker in personal sensitivity to gastric cancer and useful in cancer treatment and prevention process. [ABSTRACT FROM AUTHOR]

Background: Migraine is considered the end phenotype of a number of polygenic disorders reflecting the influence of several genetic loci modulating different pathophysiological processes. It has been shown that the 677T allele in methylenetetrahydrofolate reductase (MTHFR) gene is directly correlated with decreased enzymatic activity, and the T/T genotype is indirectly associated with mild hyperhomocysteinaemia which possibly leads to vascular disease. In this case-control study we investigated the association between C677T MTHFR polymorphisms and migraine in an Iranian population. Methods: A total of 205 cases and controls were enrolled to the study. The MTHFR C677T variant was genotyped in 102 unrelated migraine cases and 103 controls by HRM-PCR technique. Findings: There was no significant association between C677T MTHFR polymorphism and migraine in our study. The frequency of TT genotype was not higher in case group compared with the controls (OR = 0.667, 95% CI: 0.188-2.362, P = 0.530). Conclusion: The C677T variant in the MTHFR gene did not influence susceptibility to migraine in our study population. A more reliable conclusion may be drawn from investigations with larger sample size and separated migraine groups, with and without aura. [ABSTRACT FROM AUTHOR]

Background: Gastric cancer is one of the most common diseases of digestive system with a low 5-year survival rate and metastasis is the main cause of death. Multi-factors, such as changes in molecular pathways and deregulation of cells are involved in the disease development. Epidermal growth factor receptor pathway (EGFR) which is associated with cell proliferation and survival can influence cancer development. EGFR function is governed by its genetic polymorphism; thus, we aimed to study the tyrosine kinase domain gene mutations of the receptor in patients with gastric cancer. Methods: In this experimental study, 123 subjects (83 patients with gastric cancer and 40 normal subjects) were investigated in north of Iran for EGFR gene polymorphisms during 1 year. Genomic DNA was extracted by DNA extraction kit according to the manufacture's protocol. Polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) and silver staining were performed for investigating EGFR gene polymorphisms. Results: The participants included 72 men and 44 women. Gene polymorphism in exon 18 was present in 10% of the study population but SSCP pattern in exon 19 did not show different migrate bands neither in patients nor in normal subjects. Conclusion: It seems that screening for tyrosine kinas gene polymorphism of epidermal growth factor receptor in patients with gastric cancer and use of tyrosine kinas inhibitors could be useful in the prevention of disease progress and improvement of treatment process for a better quality of life in these patients. [ABSTRACT FROM AUTHOR]