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Showing 13 results for Polymorphism
Kazemi Arababadi M (phd), Pourfathollah Aa (phd), Jafarzadeh A (phd), Hassanshahi Gh (phd), Daneshmandi S (msc), Afrooz Mr (bsc), Haddadian M (bsc), Mohammadizadeh F (bsc),
Volume 12, Issue 1 (3-2010)
Abstract
Background and Objective: Occult hepatitis B infection is a form of hepatitis in which despite of absence of detectable HBsAg, HBV-DNA is present in peripheral blood of patients. The mechanisms which are responsible for progression of OBI yet to be clarified but some investigators believed that the genetics and immunological parameters may are different in resistant individuals and patients. Cytokine network system could be leading alteration in viral immune response. The aim of this study was to investigate the relation between polymorphisms +874 region of IFN-Gama with occult hepatitis B infection. Materials and Methods: In this study, the plasma samples of 3700 blood donors were tested for HBsAg and anti-HBs by ELISA. The HBsAg negative and anti-HBc positive samples were selected and screened for HBV-DNA by PCR. HBV-DNA positive samples assigned as occult hepatitis B infection cases and ARMS-PCR technique were performed to examine the present polymorphisms in +874 region of IFN-Gama genes of patients with occult hepatitis B infection. Results: 352 (9.51%) out of 3700 blood samples were negative for HBsAg and positive for anti-HBc antibody. HBV-DNA was detected in 57 (16.1%) of HBsAg negative and anti-HBc positive samples. Our results showed that there was not any significant difference between patients and control group in polymorphisms in +874 region of IFN-Gama genes. Conclusion: This study showed that there is not any significant difference between polymorphisms in +874 region with IFN-Gama occult hepatitis B infection.
Ahmadpour E, Mazloumi-Gavgani As , Bazmani A, Kazemi Ah, Babaloo Z,
Volume 13, Issue 1 (3-2011)
Abstract
protozoan of Leishmania genus and in Iran by Leishmania infantum. The protective immune response against VL is cellular immunity through Th1 CD4+, which dominant chemokiens are IL12, IFN- γ and IL18 and lead to Th1 response. Single nucleotide polymorphism (SNP) on IL-18 gene and its relation to IL18 levels in blood and IL18 function have been studied in many inflammatory diseases such as Behcect’s disease and tuberculosis. According to the important role of IL-18 in immunity against visceral leishmaniasis, this study was conducted to demonstrate the prevalence of genotypes on -607A/C in promoter region of IL-18 gene.
Materials and Methods: This descriptive and cross-sectional study was done on 91 pateints with confirmed VL, 105 healthy sero-negative controls and 78 seropositive controls during 1999-2009. Salting out method was used to extract DNA and ARMS-PCR was used to determine the genotype of -607A/C allele of individuals. Statistical analysis of genotypes was performed using Chi-Square test.
Results: According to the results, -607C/C was the dominant genotype among the groups (35.8%). Distribution of genotypes among groups had not any significant difference. The lowest genotype among healthy sero-positive and patients were -607A/C and -607A/A, respectively. Statistical analysis of distribution of genotypes, did not reveal any significant difference among groups.
Conclusion: The dominant genotypes of VL patients, healthy sero-negatives and healthy sero-positives were -607C/C (38.5%), -607A/C (37.1%) and -607C/C (35.9%) respectively.
Davoodi H, Hashemi Sr, Seow Hf,
Volume 15, Issue 2 (7-2013)
Abstract
Background and Objective: Toll-like receptors (TLRs) have been discovered as the most important receptors in innate immunity. One of the most important TLRs is TLR4, the key receptor for the LPS component of gram-negative bacteria. Two polymorphisms, D299G (rs4986790) and T399I (rs4986791), in TLR4 gene are associated with a decreased response to LPS. This study was done to estimate the expression of different polymorphisms of TLR4 gene in colorectal cancer cell line by flowcytometery. Materials and Methods: In this laboratory study, the HCT116 cells were transfected with plasmids containing different variants of TLR4 gene including Flag-tagged-TLR4 wild type, flag-tagged D299G and T399I Using TurboFect transfection reagent. Transfection efficiency was evaluated by GFP plasmid. Expression of different variants of TLR4 was assessed in transfected cells by flowcytometery. Data were analyzed using SPSS-11.5 and chi-square test. Results: TLR4 was detected on HT29 and CaCo2 cell lines at low levels. HCT116 cells did not express detectable amounts of TLR4 by flowcytometery prior to transfection. Gene transfer efficiency for GFP plasmid was about 80% in HCT116 cells by flowcytometery and microscopic analysis. TLR4 expression and LPS responsiveness significantly was higher in HCT116 cells which were transfected with wild type TLR4 gene compared to non-transfected and mutant transfected cells (P<0.05). Conclusion: Lower expression of TLR4 on cells with mutant TLR4 showed that these polymorphisms affect on expression patterns of TLR4 on colon cancer cells.
Ramazi Sh , Khazraei Hr, Motovalibashi M, Iziy E, Hashemzade Chaleshtori M , Abolhassani M,
Volume 17, Issue 2 (7-2015)
Abstract
Background and Objective: The interleukin-18 (IL-18) gene on chromosome 11 has been suggested as a susceptibility factor for allergies. It is a member of the IL-1 family that was originally described as interferon (IFN-γ)–inducing factor. IL-18 might initiate Th2 responses with production of IgE via the stimulation of IL-4 and IL-13 synthesis in mast cells and in basophil and eosinophil recruitment, such as allergic inflammation. This study was done to assess the association of Interleukin-18 gene polymorphism -137G/C with allergic rhinitis. Methods: This case-control study was performed on 293 allergic rhinitis patients and 218 healthy control volunteers .The IL-18 polymorphism was analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The frequency of the GG, GC and CC genotypes were 64.2%, 32.1% and 3.7% in healthy controls and 60.1%, 35.5% and 4.4% in allergic rhinitis patients, respectively. This diference was not significant. Conclusion: This study suggests that IL-18 polymorphism gene -137G/C may not be participated as a risk factor in the pathogenesis of allergic rhinitis.
Yousefi M, Salehi Z, Mashayekhi F, Bahadori Mh,
Volume 17, Issue 2 (7-2015)
Abstract
Background and Objective: Despite enormous progress in the understanding of human reproductive physiology, the underlying cause of male infertility remains undefined in about 50.0% of cases, which are referred to as idiopathic infertility and affects about 5.0-7.0% of the general male population. Human apurinic/apyrimidinic endonuclease (ApE1) is a multifunctional protein that has an important role in the base excision repair (BER) pathway. ApE1 SNP T>G found in exon 5 led to substitution of Asp>Glu at codon 148. This study was done to evaluate the association of ApE1 Asp148Glu polymorphism and the risk of idiopathic male infertility. Methods: In this case-control study, blood samples were collected from 90 patients diagnosed with idiopathic male infertility and 90 healthy men, genotyped by Allele-Specific PCR (AS-PCR) method by using specific primers that were designed and the association between genotype and allele frequencies in cases and controls were estimated. Results: There was no significant association between ApE1 gene polymorphism at codon 148 in case and control groups. Conclusion: No significant association was found between the Asp148Glu polymorphism and idiopathic male infertility.
Heydari Ashrafi M , Onsory Kh , Naseh V,
Volume 18, Issue 1 (3-2016)
Abstract
Background and Objective: Ovarian cancer is the second most common gynecological malignancy. One of the most important genes in Wnt signaling pathway is E-cadherin (CDH1), which is involved in epithelial cell-cell interaction and plays an important role in the establishment and maintenance of intercellular adhesion, cell polarity and tissue architecture. E-cadherin codes a group of connector proteins which caused to intercellular adhesion. It has an important role in adhesion of blastomere and ability to bind fetal tissues. Nucleotide change in the coding region of this gene may lead to develop ovarian cancer. This study was conducted to evaluate the association of +54C/T (Rs1801026) 3΄UTR of E-cadherin gene polymorphism with ovarian cancer risk. Methods: This case-control study was done on 100 tissue samples of patients with ovarian cancer as cases and 100 age-matched healthy women as control in Imam Khomeini Hospital, Tehran, Iran. The E-cadherin gene polymorphism was determined by using the PCR-RFLP method. Results: There was no association between CT (95% CI: 0.81-4.31; OR=1.87; P<0.14) and TT (95% CI: 0.73-2.38; OR=1.44; P<0.29) genotypes and ovarian cancer. No association was found between genotypes with grade and stage of cancer. Conclusion: There is no correlation between +54C/T (Rs1801026) 3΄UTR of E-cadherin gene polymorphism with ovarian cancer.
H Karimi-Rouzbahani , F Mashayekhi , H Saeedi-Saedi ,
Volume 18, Issue 4 (12-2016)
Abstract
Background and Objective: Breast cancer is a cancer in women with high prevalancy worldwide. Vascular endothelial growth factor (VEGF) is one of the most important Pro-angiogenic factors. +405C/G is one of the common VEGF polymorphism which may have an impact on the level of gene expression and over loading of gene products. This study was done to evaluate the association between VEGF +405C/G gene polymorphism and breast cancer risk in north of Iran.
Methods: This case-control study was carried out on 50 patients with breast cancer and 50 normal aged-matched controls in north of Iran. Genomic DNA was extracted from peripheral blood cells. To determine the genotype of +405 C/G VEGF gene polymorphism, PCR-RFLP method was used.
Results: The prevalence of genotypic frequencies of GG, GC and CC in controls were 42%, 48% and 10%, respectively and in patients were 22%, 46% and 32%, respectively (P<0.05). The +405C allele was considered as a risk factor in breast cancer (P<0.05).
Conclusion: It seems +405 C/G VEGF gene polymorphism may be associated with the breast cancer in northern Iran.
M Khodabandeh, M Tahmaseb,
Volume 19, Issue 1 (3-2017)
Abstract
Background and Objective: Micro RNAs (or miRNAs) control gene regulation and different biological processes in various tissues and therefore play an important role in various diseases. In some cases, either a single nucleotide polymorphisms (SNPs) in miRNAs or in complementary sequences in their target mRNAs play significant role in human diseases. In this study, the relationship between rs531564 G>C in mir-124-1 with the susceptibility to type 2 diabetes in the Iranian population was examined.
Methods: In this case-control study, 173 individuals affected with type 2 diabetes and 162 healthy individuals were selected. Extracted DNA from peripheral blood was amplified by a pair of relevant primers and then digested by BsmAI restriction enzymes. The obtained electrophoretic patterns were used for genotyping.
Results: The genotype frequencies of GG, GC and CC for rs531564 in the patient group were 0.92, 0.06 and 0.02 respectively, 0.96, 0.04 and 0.00 in the controls. Statistical analysis showed no significant difference between the two groups regarding the genotype frequencies, however the allelic frequencies were significantly different between those groups (P<0.05).
Conclusion: There was no genotype difference between diabetes and healthy individuals, but the allelic C is related with type 2 diabetes among Iranian population.
Z Bagheri, P Mohamadynejad, M Moghanibashi,
Volume 19, Issue 3 (10-2017)
Abstract
Background and Objective: Gastric cancer is the most common cancers worldwide. The survivin gene which encodes an apoptosis protein inhibitor plays an important role in maintenance and integrity of the gastric mucosa. The gene is necessary for the normal physiologic function of the stomach, but its expression increases in gastric cancer. Regarding with the role of polymorphisms of the promoter region in genes expression, this study was done to determine the association of single- nucleotide polymorphism (rs9904341) -31C/G in promoter survivin gene with risk of gastric cancers.
Methods: In this case-control study, 101 patients with gastric cancer and 101 matched age and gender healthy subjects as the control were examined by PCR-RFLP technique.
Results: Genotype CC was significantly increased the risk of gastric cancer up to 2.4 folds (95% CI=1.03–5.61, P<0.04) and allele C, as risk allele, significantly increased the risk of gastric cancer up to 1.5 folds (95% CI=1.02–2.30, P<0.03). Also, CC + GC genotypes significantly increased the risk of diffuse type of gastric cancer by 4.4-fold (95% CI=1.30-15.10, OR=4.4, P<0.01).
Conclusion: This study showed that single- nucleotide polymorphism (rs9904341) -31C/G in promoter survivin gene significantly increase the risk of gastric cancers.
Yousef Khanjari , Alijan Tabarraei , Morteza Oladnabi, Nafiseh Abdolahi ,
Volume 20, Issue 1 (3-2018)
Abstract
Background and Objective: Single Nucleotide Polymorphisms in programmed cell death which expressed at high level in T cells, plays an important role in the development and cause autoimmune disorders. This study was done to evaluate the frequncy of rs11568821 polymorphism in patients with systemic lupus erythematosus (SLE).
Methods: This case-control study was done on 76 patients with SLE and 56 healthy controls. After DNA extraction, frequncy of polymorphisms PDCD1.3 by polymerase chain reaction and sequencing methods in subjects were determined.
Results: There was a significant diference between frequency of allele and genotype at rs11568821 Polymorphism in region of intron 4 of PDCD1.3 gene in case and control groups (P<0.05). A allele and AG genotype was significantly higher in patients than healthy controls (9.5% vs 0.09%, P<0.05). There was no significant association between clinical and laboratory findings with genotype frequencies.
Conclusion: rs11568821 single nucleotide polymorphism in intron 4 gene region PDCD1 can be used as a genetic factor to be involved the SLE susceptibility.
Nasimeh Mahmoodi , Maryam Peymani , Seyed Morteza Javadirad ,
Volume 21, Issue 3 (10-2019)
Abstract
Background and Objective: Rheumatoid arthritis (RA) is the most common systemic inflammatory disease. The FOXP3 gene is an agent that activates during the course of the disease and accumulates in the sinus arthritis of the inflamed joints, resulting in persistent inflammation and ultimately tissue damage. Regarding the role of polymorphism in promoter regions in gene expression, this study was conducted to determine the association of rs2232365 polymorphism in promoter of FOXP3 gene with the incidence of rheumatoid arthritis in Iranian population.
Methods: In this case-control study, in order to investigate the relationship between FOXP3 gene rs2232365 polymorphism and rheumatoid arthritis, 77 patients and 67 healthy subjects were evaluated. The genotype of individuals for polymorphism rs2232365 was determined by PCR-RFLP method.
Results: The highest genotypic frequency was related to CC genotype with 89% frequency in two healthy and diseased populations and no difference was observed in genotypic and allelic abundance in healthy and patient populations. Different genotypes of this polymorphism did not have a significant relation with the risk of RA, while it had a significant correlation with the level of CCP factor and CC genotype was associated with the progression of RA disease by increasing the level of CCP (P<0.05).
Conclusion: This study showed that there is no correlation between polymorphism rs2232365 in promoter of FOXP3 gene with Rheumatoid arthritis in Iranian population.
Rasoul Nasiri Kalmarzi , Hossein Mohammadzadea, Fatemeh Keshavarzi ,
Volume 23, Issue 1 (3-2021)
Abstract
Background and Objective: Type II diabetes is a major globle health problem that can lead to disability and early death. This study was performed to evaluate the association of TCF7L2 (rs7903146) polymorphism with type II diabetes.
Methods: This case - control study was done on 100 patients with type II diabetes and 100 healthy subjects. Following DNA extraction, TCF7L2 (rs7903146) genotype was determined and compared between two groups by Tetra-Arms PCR method.
Results: The frequency of CT genotype was 25% and 56% in healthy subjects and patients, respectively (P<0.05). The frequency of TT genotype was 2% and 6% in control and patient groups, respectively. In the co-dominant model, rs7903146 was dependent on type II diabetes.
Conclusion: Human heterozygote for Lucos TCF7L2 (rs7903146), which contains T alleles, are high risk for developing diabetes mellitus.
Golnoosh Tolue , Seyed Abdolhamid Angaji , Behnaz Beikzadeh , Hengameh Alibeik , Raheleh Roudi, Behzad Narouie ,
Volume 25, Issue 3 (10-2023)
Abstract
Background and Objective: Prostate cancer is a malignancy affecting men. Identifying risk factors for prostate cancer is crucial for the potential development of interventions and expanding our biological understanding of this disease. The present study investigated the association of rs1800896 and rs1800896 with prostate adenocarcinoma.
Methods: This case-control study was conducted on 176 men, including 78 patients with prostate adenocarcinoma (case group) and 98 men with benign prostatic hyperplasia (control group), who visited the Labafinejad Educational and Treatment Center in Tehran, Iran. Genotyping was performed using the Tetra ARMS-PCR (amplification refractory mutation system-polymerase chain reaction) method.
Results: There was no statistically significant difference between the case and control groups in the genotype frequency of rs1800896 and rs1465618. However, the rs1800896 polymorphism was associated with PSA levels less than or equal to 4 ng/mL (P<0.05). Significant associations were found between rs1800896 and rs1465618 polymorphisms and clinical features, such as perineural invasion (P<0.05).
Conclusion: The rs1800896 and rs1465618 polymorphisms were not associated with the risk of prostate adenocarcinoma.
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