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Showing 43 results for Polymorphism
Mahdi Safarpour , Ahmad Ebrahimi , Maryam Sadat Daneshpour ,
Volume 73, Issue 9 (12-2015)
Volume 73, Issue 9 (12-2015)
Abstract
Despite the valuable results achieved in identification of genes and genetic changes associated with type 2 diabetes (T2D), lack of consistency and reproducibility of these results in different populations is one of the challenges lie ahead in introduction of T2D candidate genes. Therefore, the present review article aimed to provide an overview of the most important genes and genetic variations associated with development of T2D based on a systematic search in well-known genetic databases. For this purpose, the National Center for Biotechnology Information, Database of Genotypes and Phenotypes (NCBI dbGaP) and Human Genome Epidemiology Network (HuGENet) database were searched to find the most important genes associated with T2D. In addition, a gray literature search was conducted to collect any available information released by laboratories offering genetic tests such as deCODE genetics and 23andMe. Candidate genes were selected among the results of all databases based on the highest level of similarity. Subsequently, without any time restriction, PubMed, Scopus and Google scholar databases were searched using relevant Medical Subject Headings (MeSH) terms to access related articles. The relevant articles were screened to make a conclusion about the genes and genetic variations associated with T2D. The results revealed that four selected candidate genes, in order of importance, were TCF7L2, CDKAL1, KCNJ11, and FTO. The most significant single nucleotide polymorphism (SNP) associated with T2D in the TCF7L2 gene was rs7903146 however, the results showed a wide range of variation from slight association in the Amish (P= 5.0×10-2) to strong association in European descent populations (P= 2.0×10-51). Then, rs10440833 mapping to the intronic region of the CDKAL1 gene showed significant association with T2D (P= 2.0×10-22). In the KCNJ11 gene, a missense variation (rs5215) in exon one was found to have the highest association with T2D compared with other SNPs discovered in this gene (P= 5.0×10-11). Finally, rs8050136 located in the first intron of the FTO gene had the strongest association with T2D (P= 2.0×10-17). On the basis of these results, it can be concluded that the current study can be introduced as a model for achieving well-documented results among spectrum of information available in genetic databases based on a systematic search strategy. The candidate genes and genetic variations presented in this review article might be applied for early diagnosis, prevention, and treatment of T2D.
Vahid Moslehizadeh , Farzam Ajamian , Ahmad Ebrahimi , Hossein Delshad Siahkali ,
Volume 73, Issue 12 (3-2016)
Volume 73, Issue 12 (3-2016)
Abstract
Background: The major issue to address in obesity etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of obesity. Among all obesity susceptibility genes studied before, convincing association has been found with variants in the FABP2 gene and this disease; however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether a missense variation (rs1799883) in this gene is associated with obesity in the Tehran Lipid and Glucose Study (TLGS) population.
Methods: A case–control study was designed to determine the possible association between rs1799883 and occurrence of obesity “in phase IV of the study between the years of 2008 to 2011”. The study group consisted of 217 subjects with body mass index (BMI, kg/m2) greater than 30 as cases and 159 healthy individual as control group (18
Results: The results showed no significant differences between case and control groups in terms of allele frequency (P=0.61). According to the findings, the presence of T allele as the risk allele was not associated with increased risk of obesity in carriers of this allele compared to individuals carrying the normal allele (OR=1.17; CI%95= 0.62-2.19, P=0.61).
Conclusion: The results did not support the previous findings of an association between genetic polymorphism in the FABP2 gene and risk of obesity. However, a number of replicated studies with other ethnicity are suggested to make a conclusion about the role of this genetic polymorphisms and susceptibility to obesity in Iranian population.
Mehrnoosh Ramezani, Mehdi Hedayati , Saeed Hoseini Asl , Meraj Tabatabaei , Mohammad Mazani , Shirzad Nasiri ,
Volume 74, Issue 4 (7-2016)
Volume 74, Issue 4 (7-2016)
Abstract
Background: Thyroid cancer is the most common endocrine malignancy. Accounting for approximately 1-2% of all cancers. Thyroid cancers have been divided into four main types: papillary, follicular, medullary and anaplastic. The active form of vitamin D (1,25- (OH) 2-vitamin D3) by binding to its receptor, using genomic and non-genomic mechanisms inhibits the proliferative effect of TSH on thyroid cells. Therefore, vitamin D may have a role in regulating of thyroid gland cell proliferation. Many studies have shown anti-cancer effects of vitamin D in cancers. Polymorphisms of Vitamin D receptor can influence the prevalence to various cancers. In the present study, serum level of vitamin D and FokI, BsmI and Tru9I polymorphism of vitamin D receptor was investigated.
Methods: This case-control study was performed in the summer of 2015 in Endocrinology and Metabolism Center of Shahid Beheshti University of Medical Sciences, Tehran, Iran. Forty medullary thyroid cancer patients and 40 healthy controls were investigated. Genomic DNA of subjects was extracted with saturated salt/proteinase K and polymorphisms of vitamin D receptor gene investigated by polymerase chain reaction-sequencing. Serum level of vitamin D evaluated by ELISA technique. The results were analyzed by SPSS, ver. 20 (Chicago, IL, USA) and GraphPad Prism, ver. 5 (GraphPad, Inc., CA, USA) softwares.
Results: Genotypic and allelic abundance of FokI and BsmI polymorphisms between test and control groups have not shown significant different. In Tru9I polymorphism, Tt genotype abundance in test group were 45 percent and in control group were 17.5 percent and t allelic abundance in test group were 25 percent and in control group were 8.7 percent which this different were significant. Average serum level of vitamin D in test group was 23.32 ng/ml and in control group was 18.95 ng/ml which was statistically significant.
Conclusion: Unexpectedly, serum levels of vitamin D in test group were higher than control group. Tru9I polymorphism is significantly correlated to medullary thyroid carcinoma prevalence.
Ehsan Sarraf Kazerooni , Ehteramolsadat Hosseini , Zohreh Sharifi , Azita Azarkeivan , Mehran Ghasemzadeh ,
Volume 74, Issue 5 (8-2016)
Volume 74, Issue 5 (8-2016)
Abstract
Background: Human leukocyte antigen E is a member of non-classical HLA class I. Interaction between HLA-E molecule on the target cells and inhibitory CD94/NKG2A receptor on the cell surface of natural killer (NK) cells has an important role in the regulation of immune system against pathogens; therefore different cell surface expression of HLA-E molecule plays an important role in host resistance against viral infections as well as host response to treatment. Considering this fact, we analyzed the frequency of different HLA-E genotypes (HLA-E*01010101, HLA-E*01030103, HLA-E*01010103) in major thalassemic patients who underwent frequent transfusion therapy and are thus more susceptible to infectious diseases.
Methods: This study was a cross-sectional study of 104 major thalassemic patients who referred to Tehran Thalassemia Clinic between the years 2015 to 2016. Blood DNA was extracted and proliferated by sequence-specific primer polymerase chain reaction (SSP PCR). The PCR product was subjected to electrophoresis on 1.5 percent agarose gel then DNA fragment bands on the gel were detected by exposing to UV light. Furthermore, PCR products were also subjected to sequencing analysis for further confirmation.
Results: From 104 patients in this study, 49 (47.1%) were man and 55 (52.9%) were women. These patients were in the age range of 16 to 43 years (mean+SD; 31.03±4.7 year). The frequency of HLA-E*01010103 genotype (64.4 percent) was significantly (P= 0.001) higher than the genotypes of HLA-E*01010101 (15.4%) and HLA-E*01030103 (20.2%) whereas there was no difference between the frequency of HLA-E*0103 allele (52.4%) and HLA-E*0101 (47.6%).
Conclusion: This is the first study that examined the HLA-E polymorphisms in Iranian thalassemic patients referred to Tehran Thalassemia Clinic. This study has shown that the frequency of HLA-E*01010103 genotype was significantly higher than other genotypes of HLA-E whereas there was no difference between the frequency of HLA-E*0103 allele and HLA-E*0101 allele. Whether different frequencies of HLA-E genotype may affect thalassemic patients’ susceptibility to blood-borne infections will be of interest for future studies.
Zahra Asghari Lalami, Ahmad Ebrahimi, Maryam-Sadat Daneshpour,
Volume 74, Issue 6 (9-2016)
Volume 74, Issue 6 (9-2016)
Abstract
Background: Obesity is one of the most important problems in developed countries and cause cardiovascular diseases, diabetes and hypertension. The complex phenotype influenced by both genetic and the environment factors. One of the most important genes which is effective in this phenotype is peroxisome proliferator-activated receptor gamma (PPAR-γ). This study was carried out of investigate the association of Pro12Ala (rs1801282) polymorphism in mentioned gene with obesity in Tehran Lipid and Glucose Study (TLGS).
Methods: The present study done in September 2014 in Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences. For the present case-control study 239 subjects with excess weight and body mass index more than 30 kg/m2 as a case and 240 subjects with normal weight and body mass index less than 25 kg/m2 as a control were selected. The rs1801282 was proliferated, detected and genotyped using tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method.
Results: The results indicated that there was significant association between the presence of risk allele G of rs1801282 and obesity disease in the TLGS population (P=0.000). Genotype and allelic frequencies of rs1801282 in patient and healthy group were: 55.2% and 23.8% for GG, 24.3% and 30.4% for GC, 20.5% and 45.8% for CC, 67% and 39% for G, 33% and 61% for C, respectively.
Conclusion: The results of study indicated that the presence of G allele could be increase 1.7 the risk of obesity. These differences in patient and healthy group lead us to select this marker as a genetic marker to predict the risk of obesity. There are statistical differences between the distribution of mentioned polymorphism in Tehranian population and other populations. However, replicating the study in a larger population of Tehranian people with more affected cases is suggested to generalize the results of this study.
Roya Mahdavi, Mitra Jamali, Mehdi Rostami, Amin Safa, Abdollah Jafarzadeh, Mohsen Naseri,
Volume 74, Issue 6 (9-2016)
Volume 74, Issue 6 (9-2016)
Abstract
Background: Multiple sclerosis (MS) is a chronic inflammatory disorder of the CNS characterized by destruction of the myelin sheath, gliosis and progressive neurological dysfunction. The regulatory T (Treg) cells play a major role in the control of the autoimmunity and inflammation. The forkhead box p3 (FOXP3) is a central molecule in the function of Treg cells that play an important role in the immunoregulation. The aim of this study was to investigation single nucleotide polymorphism (SNP), rs2232365, in FOXP3 gene in patients with multiple sclerosis.
Methods: In a case-control study, peripheral blood samples were collected from 90 patients with MS (46 men and 94 women with different patterns of disease) from January 2014 to April 2015 in the Afzalipoor Hospital, Kerman (a city located in the southeast of Iran). In a total, 90 healthy subjects were also enrolled into the investigation as a control group. The healthy subjects were recruited among blood donations of the Kerman Transfusion Organization and interviewed regarding CNS disease, and none of them had any history of CNS diseases or other relevant disorders. The SNP rs2232365 in FOXP3 gene was assessed by single specific primer-polymerase chain reaction (SSP-PCR) method. Finally, statistical analysis was performed using SPSS version 22 (Chicago, IL, USA).
Results: In both patients and healthy control groups, there was significant difference among subjects with GG, AG, and AA genotypes at rs2232365 in FOXP3 gene. The frequencies of AA and AG genotypes at rs2232365 in the FOXP3 gene were significantly higher in MS group as compared with healthy subjects (P<0.002). Moreover, the frequency of GG genotype was significantly lower in the MS group in comparison with healthy control subjects (P<0.002). The frequency of A allele was significantly higher whereas the frequency of G allele was significantly lower in MS patients as compared with healthy subjects (P<0.001).
Conclusion: The results of the present study suggest that SNP rs2232365 may influence the susceptibility to multiple sclerosis. Therefore, SNP rs3761548 may directly or indirectly alter the level of the FOXP3 protein expression in Treg cells.
Association between 497A>G polymorphism in FCGR2A gene with recurrent miscarriage in infertile women
Zahra Mofidimanesh , Khadijeh Onsory , Anahita Mohseni Meybodi ,
Volume 74, Issue 11 (2-2017)
Volume 74, Issue 11 (2-2017)
Abstract
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Background: The results indicated that the immunologic and genetic factors play a key role in the susceptibility to this syndrome compared to other risk factors. Immunoglobulin G, representing approximately 80% of Immunoglobulins in humans and the only way that IgG2 can be passed from mother to fetus blood circulation is binding to Fcgamma receptor (FcγR) classes which have been coded by Fcgamma receptor (FcγRIIA) gene. Any changes in the FcγRIIA gene structure such as mutations or polymorphisms can be considered as risk factors on the incidence of abortion through causing the inflammation or decreasing fetus safety. This receptor is the only which can have an interaction with IgG2 antibody and the Therefore, the current study was carried out to assess the association between R/H131 polymorphism in the FcγRIIA gene and susceptibility to recurrent abortions in Iranian women. Methods: For this reason, a case-control study was confirmed to compare the frequency of FCGR2A gene R/H131 polymorphism in 150 women with recurrent miscarriage history having normal karyotype and 150 healthy women with no abortion history as control which were collected in March 2014 up to September 2015, from Royan Institute for Reproductive, Tehran, Iran. The genomic DNA was extracted from peripheral blood leukocytes and genotyping was performed using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results: The frequency of AA, AG, and GG genotypes in case and control groups were 31.3%, 54.7%, 14% and 27.3%, 49.2%, 23.5% respectively. According to the findings, the presence of the risk allele was not associated with increased risk of recurrent miscarriage compared with individuals lacking the risk allele and it statistically was significant (P= 0.11). No significant association was found between the age of participants and risk of abortion in Iranian studied population (P= 0.083). Conclusion: The results of present study do not support the previous findings of an association between R/H131 polymorphism in FCGR2A gene and recurrent miscarriage. |
Sadegh Baniaghil, Gholamreza Nikbakht Borujeni , Hassan Tajbakhsh, Atefeh Esmailnejad, Ali Akbar Amirzargar ,
Volume 75, Issue 3 (6-2017)
Volume 75, Issue 3 (6-2017)
Abstract
Background: HLA disease association was investigated in several autoimmune, cancer and infectious diseases. The outcome of tuberculosis (TB) infection may be influenced by host genetic factors like MMP-1, MCP-1, IL-10, IL-12, TNF-α, IFN-γ and human leukocyte antigen (HLA). Given the paucity of information with regard to the association between the human leukocyte antigens (HLA) and TB infection among Iranians, we aimed to identify HLA polymorphisms that might confer susceptibility or protect against TB.
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Methods: In this case-control study, to investigate the association between the HLA-DRB1 and DQB1 alleles and TB, 50 patients with tuberculosis were selected from Sistani population in Golstan University of Medical Sciences, Golestan Province, North East of Iran, from September 2015 to February 2016. Allele frequencies in patients were compared with a 100 aged and sex match control group from healthy blood donor of that ethnic population. HLA-DRB1 and -DQB1 alleles were determined using polymerase chain reaction based on sequence specific primer (PCR-SSP) method by low to intermediate resolution kits supplied by CTS (Collaborative Transplant Study, Heidelber University, Germany). Using EPI-info statistical software Chi-square test and fisher exact test, 95% confidence interval and odd ratio were calculated and allele frequencies in patients and control subjects were compared. P-value less than 0.05 were considering statistically significant. |
Results: The results of this study showed a significant increase and positive association with -DRB1*04:03 (OR=3.13, CI 95% (2.47-3.96), -DRB1*14:04 (OR=3.13, CI 95% (2.47-3.96), -DQB1*0201 (OR=2.67, CI 95% (1.18-6.04), -DQB1*0601 (OR=3.16, CI 95% (1.36-7.73) ,while the frequency of -DRB1*07 (OR=0.16, CI 95% (0.05-0.52) were lower in patients than control group and shows negative association.
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Conclusion: The results of this study confirmed some of the previous positive and/or negative association, however it is suggested that HLA-DRB1*04:03, -DRB1*14:04, -DQB1*0201, -DQB1*0601- have an important role in susceptibility to tuberculosis infection and -DRB1*07 was associated with protection in Iranian Sistani population. Larger case-control sample size studies may be helpful to confirm our investigation. In addition population-specific studies is needed for evaluation of the role of HLA polymorphisms in tuberculosis in different ethnic groups. |
Amir Tajbakhsh, Fahimeh Afzal Javan , Mostafa Fazeli, Mahdi Rivandi, Mohammad Mahdi Kushyar, Mohammadreza Nassiri, Alireza Pasdar,
Volume 75, Issue 5 (8-2017)
Volume 75, Issue 5 (8-2017)
Abstract
Breast carcinoma is the most common cause of cancer mortality among women globally. Primary and secondary prevention through avoiding known risk factors, screening for early detection of tumors with different methods as well as timely treatment, can be effective in reduction of the burden of this devastating disease. This can in turn prevent death and also increase survival in patients with breast cancer. Both environmental and genetic factors are involved in the pathogenesis of breast cancer. Multiple genetic factors can influence the risk and development of breast cancer. Identification of genetic variants including single nucleotide polymorphisms (SNPs), which are associated with the risk of breast cancer development, are mostly done through genetic association studies. It is demonstrated that SNP allele frequencies vary amongst different populations. It has been shown that genetic risk factors like variations in TOX high mobility group box family member 3 (TOX3), which affect the liability for neoplasm, play an important role in the development of breast cancer. Although TOX3 is expressed mainly in the brain, its expression in other tissues especially breast has also been reported. TOX3 maps to chromosome 16q12 and encodes the nuclear high-mobility group (HMG)-box. It has calcium (Ca2+)-dependent transcriptional activities and is a co-factor of cAMP response element (CRE)-binding protein (CREB) and CREB-binding protein (CBP). TOX3, activated with Ca2+, is related with activation of the promoter of some other genes including BCL2 and C3 complement and also CITED1 gene expression. It also induces activation of the c-fos promoter and therefore its expression. Genome-wide association studies (GWAS) in different populations including European, Asian and African-American have demonstrated that a SNP near its 5ʹ end and the promoter of TOX3 gene appears to be significantly associated with breast cancer susceptibility. Furthermore, breast cancer–associated SNPs lead to enhanced FOXA1 bindings and in turn, a reduction in TOX3 gene expression. This review has highlighted the importance of TOX3 function, SNPs and its association with breast cancer risk and also its potential effects on breast cancer treatment; TOX3 plays dual and somehow conflicting roles in cancer initiation and progression which remains to be further investigated.
Neda Norouzi , Mortaza Bonyadi , Esmaeil Babaei , Mohammad Hossein Jabbarpour Bonyadi ,
Volume 75, Issue 5 (8-2017)
Volume 75, Issue 5 (8-2017)
Abstract
Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and is characterized by progressive degeneration of the retinal pigment epithelium and secondary photoreceptor loss, resulting in visual loss. Etiological research suggests that age related macular degeneration is a complex disease, caused by the interactions of several genetic and environmental factors. Polymorphisms in genes encoding the alternative complement pathway, complement factor I (CFI), are associated with the risk for age related macular degeneration. The purpose of this investigation was studying of complement factor I p.Gly119Arg (C.355G>A) polymorphism with age related macular degeneration in the population living in Tehran, Iran.
Methods: This case-control study was conducted at Tabriz University from June 2015 to June 2016. In this study the association of p.Gly119Arg polymorphism in complement factor I gene was investigated in 150 patients suffering from age-related macular degeneration and 150 healthy age, sex and ethnicity matched unrelated people as control group. Both of the case and control groups were originated from the population living in Tehran. Genotypes of both groups were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and data was analyzed the Chi-square test in 2x2.Contingency table.
Methods: This case-control study was conducted at Tabriz University from June 2015 to June 2016. In this study the association of p.Gly119Arg polymorphism in complement factor I gene was investigated in 150 patients suffering from age-related macular degeneration and 150 healthy age, sex and ethnicity matched unrelated people as control group. Both of the case and control groups were originated from the population living in Tehran. Genotypes of both groups were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and data was analyzed the Chi-square test in 2x2.Contingency table.
| Results: Investigation of the association of p.Gly119Arg polymorphism in complement factor I gene with age related macular degeneration showed that there are statistically significant differences between patients and controls in genotype and allele frequencies of this polymorphism (P=0.005 and OR=6.68 in TT, P=0.04 and OR=0.61 in CC, P=0.03 and OR=1.76 in T, P=0.04 and OR=0.56 in C). Therefore CC, TT genotypes and C, T alleles were significantly associated with age related macular degeneration. |
Conclusion: This study showed a significant association between this polymorphism p.Gly119Arg (C.355G>A) complement factor I gene and age related macular degeneration disease in the population living in Tehran (P<0.05). Our data suggests that this locus polymorphism is not as rare in our studied population as previously reported from different population.
Esmat Abdi , Saeid Latifi-Navid , Hamid Latifi-Navid , Saber Zahri, Abbas Yazdanbod ,
Volume 76, Issue 6 (9-2018)
Volume 76, Issue 6 (9-2018)
Abstract
Gastric cancer (GC) is the second leading cause of cancer-related deaths worldwide. It has been proposed that the specific genotypes of Helicobacter pylori (H. pylori) are the causative agents in the development of gastroduodenal diseases, such as chronic atrophic gastritis, peptic ulcerations, and GC. However, disease progression to GC occurs in only a small proportion of infected patients. Recently, we identified a novel polymorphic site in the 3ʹ-end region of H. pylori vacA gene. The vacA c1 genotype increased the risk of GC. This association was independent of and larger than the associations of the m-, i-, and d-type of vacA or cagA status with GC. Therefore, treatment of H. pylori infection may be an effective way to prevent GC. Expression of cytokines and their associations with inflammatory responses has been shown. Several cytokine polymorphisms, such as IL-1B, IL-8, IL-10, and TNF-α have been considered as risk factors for GC. It has been shown that the interaction of bacterial genotypes and host factors plays an essential role in developing GC. Several altered molecular pathways are involved in the pathogenesis of GC. Micro-RNAs are small, non-coding RNAs of 18-25 nucleotides in length that regulate the expression of target mRNAs. Expression pattern of cancer cells is different compared with the normal cells. Micro-RNAs plays a critical role in apoptosis and classified in two groups: pro- and anti-apoptotic agents. Recent studies have confirmed the oncogenic or tumor suppression role of micro-RNAs in cancer cells. They play a significant role in the GC cell physiology and tumor progression, by translational suppression of target genes. These small RNAs have therefore emerged as a new type of GC biomarker with immeasurable clinical potential. Generally, a variety of micro-RNAs involved in different stages of cancer, including tumorigenesis, angiogenesis, and metastasis. Considering to this issue more than 50% of cancers can be cured, if they were diagnosed in the early stages. Hence, identifying the biomarkers of GC could play an important role in prevention, early diagnosis and rapid treatment of patients. In this review article, we have reviewed the latest findings about bacterial and tissue biomarkers of GC
Mitra Jamali , Mehdi Rostami Rad , Gholamreza Anani Sarab , Roya Mahdavi ,
Volume 76, Issue 7 (10-2018)
Volume 76, Issue 7 (10-2018)
Abstract
Background: Multiple sclerosis is the most common autoimmune demyelinating disease of the central nervous system (CNS). Interleukin-33 (IL-33) is a cytokine with both pro-inflammatory and anti-inflammatory activities that implicated in the pathogenesis of some autoimmune diseases. The aim of this study was to determine single nucleotide polymorphism (SNP) of IL-33, rs1929992, in patient’s gene with multiple sclerosis (MS) and investigation of this polymorphism with susceptibility to MS.
Methods: In this case-control study, peripheral blood samples were collected from 140 MS patients (patients in the Afzalipur Hospital in Kerman) and blood sample of 140 healthy subjects (people referred to the Blood Transfusion Organization) as a control group from March 2016 to January 2018. SNP at rs1929992 was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
Results: There was significant difference between healthy control group and patient with multiple sclerosis in the frequency of genotypes. The frequency of AA genotype at rs1929992 was significantly higher in the MS group in comparison with healthy control subjects (P= 0.0001), whereas frequency of AG genotype was significantly higher in the control group as compared with MS group (P= 0.02). There was no significant difference between the MS patients and healthy control group in GG genotype. Moreover, the frequencies of AA genotype at SNP rs1929992 were significantly higher in patients with secondary progressive MS (SP-MS) and primary progressive MS (PP-MS) as compared with control group (P= 0.03). However, the frequencies of AG genotype was significantly lower in patients with relapsing-remitting MS (RRMS) in comparison to the healthy group (P= 0.01). In patients with RR-MS, PP-MS and SP-MS patterns, the frequencies of A allele was significantly higher than that in control group (P= 0.03, P= 0.01, P= 0.001). In patients with RR-MS, PP-MS and SP-MS pattern, the frequency of G allele was significantly lower than control group (P= 0.03, P= 0.01, P= 0.001).
Conclusion: The results of this study suggest that the SNP rs1929992 in IL-33 gene, may be associated with different pattern of MS susceptibility.
Methods: In this case-control study, peripheral blood samples were collected from 140 MS patients (patients in the Afzalipur Hospital in Kerman) and blood sample of 140 healthy subjects (people referred to the Blood Transfusion Organization) as a control group from March 2016 to January 2018. SNP at rs1929992 was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
Results: There was significant difference between healthy control group and patient with multiple sclerosis in the frequency of genotypes. The frequency of AA genotype at rs1929992 was significantly higher in the MS group in comparison with healthy control subjects (P= 0.0001), whereas frequency of AG genotype was significantly higher in the control group as compared with MS group (P= 0.02). There was no significant difference between the MS patients and healthy control group in GG genotype. Moreover, the frequencies of AA genotype at SNP rs1929992 were significantly higher in patients with secondary progressive MS (SP-MS) and primary progressive MS (PP-MS) as compared with control group (P= 0.03). However, the frequencies of AG genotype was significantly lower in patients with relapsing-remitting MS (RRMS) in comparison to the healthy group (P= 0.01). In patients with RR-MS, PP-MS and SP-MS patterns, the frequencies of A allele was significantly higher than that in control group (P= 0.03, P= 0.01, P= 0.001). In patients with RR-MS, PP-MS and SP-MS pattern, the frequency of G allele was significantly lower than control group (P= 0.03, P= 0.01, P= 0.001).
Conclusion: The results of this study suggest that the SNP rs1929992 in IL-33 gene, may be associated with different pattern of MS susceptibility.
Farideh Zafari Zangeneh , Masoumeh Masoumi , Elahe Seyed Aboutorabi ,
Volume 76, Issue 9 (12-2018)
Volume 76, Issue 9 (12-2018)
Abstract
Background: Genetic polymorphism is responsible for variations and individual differences. Polymorphism is a major factor of complex diseases with unknown etiology and cancer. Inconsistency in the symptoms of polycystic ovary syndrome (monthly disorder, hirsutism, obesity, diabetes, infertility) is one of the major pathological complications of this syndrome. The present study was conducted to evaluate the polymorphism gene β2 and β3 adrenergic receptors in women with polycystic ovary syndrome.
Methods: This cross-sectional study was performed on 200 patients with polycystic ovary syndrome (PCOS) in Imam Khomeini Hospital, Vali-e-Asr Infertile Clinic in Tehran, Iran, from March 2016 to April 2017. Blood samples in two groups (study and control) were obtained for genomics approved by the DNA Company based on the gene bank. Polymerase chain reaction (PCR) samples were extracted and then the primer design was performed by using Primer Express software, version 3.0 (Applied Biosystems, Foster City, CA, USA) and confirmed by using of the primer blast tool at the NCBI site in terms of compliance with the beta 3 adrenergic receptor gene. Analysis of protein changes was performed by using CLUSTALW (https://www.genome.jp/tools-bin/clustalw). Polymorphism was investigated on codons 16, 27, 113 and 164 from the beta2 adrenoceptor gene and codon 64 of the beta3 adrenergic receptor gene.
Results: The study of the codon beta2 of adrenoceptors showed that only codon 164 (Thr164Ile) polymorphism (44.4%) was significant (P<0/002) in study group. Homozygote and heterozygote ratios also show a significant difference between the study and control groups (P<0/004). Polymorphism exon 1 in codon 64 of beta3 adrenoceptor; which codes the amino acid tryptophan, indicates that the nucleotide T has changed to C. This finding confirms that mutagenic genotype can raise chance of getting to the polycystic ovary syndrome in women. OR: 2.546 (95% CI: 1.02-5.367) (P=0.012).
Conclusion: These results show that polymorphisms of codon 164 (Thr164Ile) of beta2 receptor gene and beta3 adrenergic receptor gene polymorphism Thr164Ile (rs 4994) associate with polycystic ovary syndrome and the risk of PCOS are significantly increased in mutation genotype women.
Methods: This cross-sectional study was performed on 200 patients with polycystic ovary syndrome (PCOS) in Imam Khomeini Hospital, Vali-e-Asr Infertile Clinic in Tehran, Iran, from March 2016 to April 2017. Blood samples in two groups (study and control) were obtained for genomics approved by the DNA Company based on the gene bank. Polymerase chain reaction (PCR) samples were extracted and then the primer design was performed by using Primer Express software, version 3.0 (Applied Biosystems, Foster City, CA, USA) and confirmed by using of the primer blast tool at the NCBI site in terms of compliance with the beta 3 adrenergic receptor gene. Analysis of protein changes was performed by using CLUSTALW (https://www.genome.jp/tools-bin/clustalw). Polymorphism was investigated on codons 16, 27, 113 and 164 from the beta2 adrenoceptor gene and codon 64 of the beta3 adrenergic receptor gene.
Results: The study of the codon beta2 of adrenoceptors showed that only codon 164 (Thr164Ile) polymorphism (44.4%) was significant (P<0/002) in study group. Homozygote and heterozygote ratios also show a significant difference between the study and control groups (P<0/004). Polymorphism exon 1 in codon 64 of beta3 adrenoceptor; which codes the amino acid tryptophan, indicates that the nucleotide T has changed to C. This finding confirms that mutagenic genotype can raise chance of getting to the polycystic ovary syndrome in women. OR: 2.546 (95% CI: 1.02-5.367) (P=0.012).
Conclusion: These results show that polymorphisms of codon 164 (Thr164Ile) of beta2 receptor gene and beta3 adrenergic receptor gene polymorphism Thr164Ile (rs 4994) associate with polycystic ovary syndrome and the risk of PCOS are significantly increased in mutation genotype women.
Glareh Koochakpoor, Firoozeh Hosseini-Esfahani , Maryam Sadat Daneshpour , Parvin Mirmiran , Fereidoun Azizi ,
Volume 76, Issue 10 (1-2019)
Volume 76, Issue 10 (1-2019)
Abstract
Background: There are contradictions in the role of genetic variations and food group intake on metabolic syndrome (MetS). This study was aimed at examining the interaction between food groups and CCND2 rs11063069, ZNT8 rs13266634 and MC4R rs12970134 polymorphisms, regarding MetS and its components.
Methods: In this matched nested case-control study (2006-2014), the data of 1634 (817 pairs) case and controls were selected among participants of the Tehran Lipid and Glucose Study (TLGS). The cases and controls were matched by age, sex and number of follow-up years. Dietary intakes were assessed using a valid and reliable food frequency questionnaire. Polymorphisms were genotyped.
Results: A significant interaction was observed between rs12970134 and green vegetable, read meat, and soft drink, in relation to the risk of low high density lipoprotein cholesterol (HDL-C), high triglyceride (TG) and high fasting blood glucose (FBG), respectively (P<0.05). The consumption of vegetables altered the effect of rs11063069 on MetS. Among G allele carriers, being in the highest quartiles of vegetables intake had a decrease risk of MetS, compared to those in the lowest quartile (P=0.007), but this trend was not observed in AA genotype carrier. There was also a significant interaction between rs13266634 and salty snack and fish intakes, in relation to the risk of abdominal obesity (P<0.05). Increasing salty meals by CT+TT genotypes carriers increased the odds ratio of abdominal obesity, while in the CC genotype, this increase was not observed. A significant interaction was also observed between rs11063069 with other vegetables, red-yellow vegetable and fruit intake respectively, regarding the risk of high FBG, low HDL-C and high blood pressure (P<0.05).
Conclusion: The present study demonstrates the interaction between food groups and MC4R, ZNT8 and CCND2 polymorphisms. To reduce the risk of MetS, high risk allele carriers of rs12970134 must avoid meat consumption, while in high risk allele carriers of rs11063069 and rs13266634, vegetables and fish should be consumed.
Methods: In this matched nested case-control study (2006-2014), the data of 1634 (817 pairs) case and controls were selected among participants of the Tehran Lipid and Glucose Study (TLGS). The cases and controls were matched by age, sex and number of follow-up years. Dietary intakes were assessed using a valid and reliable food frequency questionnaire. Polymorphisms were genotyped.
Results: A significant interaction was observed between rs12970134 and green vegetable, read meat, and soft drink, in relation to the risk of low high density lipoprotein cholesterol (HDL-C), high triglyceride (TG) and high fasting blood glucose (FBG), respectively (P<0.05). The consumption of vegetables altered the effect of rs11063069 on MetS. Among G allele carriers, being in the highest quartiles of vegetables intake had a decrease risk of MetS, compared to those in the lowest quartile (P=0.007), but this trend was not observed in AA genotype carrier. There was also a significant interaction between rs13266634 and salty snack and fish intakes, in relation to the risk of abdominal obesity (P<0.05). Increasing salty meals by CT+TT genotypes carriers increased the odds ratio of abdominal obesity, while in the CC genotype, this increase was not observed. A significant interaction was also observed between rs11063069 with other vegetables, red-yellow vegetable and fruit intake respectively, regarding the risk of high FBG, low HDL-C and high blood pressure (P<0.05).
Conclusion: The present study demonstrates the interaction between food groups and MC4R, ZNT8 and CCND2 polymorphisms. To reduce the risk of MetS, high risk allele carriers of rs12970134 must avoid meat consumption, while in high risk allele carriers of rs11063069 and rs13266634, vegetables and fish should be consumed.
Milad Pezeshki , Jamshid Ansari ,
Volume 76, Issue 10 (1-2019)
Volume 76, Issue 10 (1-2019)
Abstract
Background: Breast cancer is one of the most common worldwide malignancies among women. Biological data suggest that damage induced by endogenous and exogenous factors affects the integrity of DNA and associated with susceptibility to breast cancer. Single nucleotide polymorphisms (SNPs) in DNA repair genes can associated with differences in the repair efficiency of DNA damage and may affect breast cancer. The XRCC3 protein participates in DNA double-strand breaks and recombinational repair, in other words the product of XRCC3 gene, plays a key role in homologous recombination repair of DNA double-strand breaks. The polymorphism of FokI plays critical roles in breast cancer development. The aim of the present study was to evaluate associations between the risk of breast cancer and FokI polymorphism in the XRCC3 gene.
Methods: This case-control study was carried out on the women with breast cancer and healthy women located in Markazi province at Arak University Research, Iran, from October 2016 to March 2017. In the present study, the association of FokI polymorphisms and the risk of breast cancer was assessed by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. In this method, genomic DNA was extracted from blood samples using the kit procedure. Then, PCR was performed and the SNP-containing DNA amplicons were subjected to digestion of enzymes. Following digestion, each sample was immediately analyzed by 3% agarose gel electrophoresis. Statistical analysis was done using SPSS and SNP Analyzer softwares and the final results were determined.
Results: No statistically significant difference was observed between the two groups of patients and controls for three genotypes the site rs1799794 (P=0.435). Genotype AG (P=0.384, OR=0.614, CI=95%, 0.205-1.840) and GG (P=0.867, OR=0.911, CI=95%; 0.308-2.699) had no significant associations with risk of breast cancer.
Conclusion: There was no significant association between FokI polymorphisms of the XRCC3 and risk of susceptibility to breast cancer, which was in accordance to some researchers. FokI polymorphisms of XRCC3 gene cannot be used as a biomarker in clinical predictive studies in relation to risk of breast cancer.
Methods: This case-control study was carried out on the women with breast cancer and healthy women located in Markazi province at Arak University Research, Iran, from October 2016 to March 2017. In the present study, the association of FokI polymorphisms and the risk of breast cancer was assessed by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. In this method, genomic DNA was extracted from blood samples using the kit procedure. Then, PCR was performed and the SNP-containing DNA amplicons were subjected to digestion of enzymes. Following digestion, each sample was immediately analyzed by 3% agarose gel electrophoresis. Statistical analysis was done using SPSS and SNP Analyzer softwares and the final results were determined.
Results: No statistically significant difference was observed between the two groups of patients and controls for three genotypes the site rs1799794 (P=0.435). Genotype AG (P=0.384, OR=0.614, CI=95%, 0.205-1.840) and GG (P=0.867, OR=0.911, CI=95%; 0.308-2.699) had no significant associations with risk of breast cancer.
Conclusion: There was no significant association between FokI polymorphisms of the XRCC3 and risk of susceptibility to breast cancer, which was in accordance to some researchers. FokI polymorphisms of XRCC3 gene cannot be used as a biomarker in clinical predictive studies in relation to risk of breast cancer.
Azim Adibmanesh , Narges Mohammad Taghvaei , Mehrnoosh Zakerkish , Hamid Yaghooti ,
Volume 77, Issue 12 (3-2020)
Volume 77, Issue 12 (3-2020)
Abstract
Background: Nitric oxide (NO) produced by endothelial NO synthase (eNOS) mediates a large range of processes, and abnormality in the production of NO has been implicated in diabetic complications including diabetic nephropathy (DN). G894T polymorphism in the eNOS gene has been shown to decreased activity the NO levels of plasma. The association between eNOS Glu298Asp gene polymorphism and DN risk is still controversial. The present study investigated the effect of eNOS gene G894T polymorphism on susceptibility to type 2 diabetes (T2D) and DN and measures of kidney function in a population with and without diabetes.
Methods: This case-control study was carried out at the diabetes specialist clinic of Golestan Hospital of Ahvaz Jundishapur University of Medical Sciences, Iran, from September 2016 to December 2017. The study comprised 132 patients with T2D (with and without nephropathy). They were compared to 66 normal subjects. The subjects were genotyped for the eNOS G894T polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Blood glucose, HbA1c, BUN, creatinine and urinary albumin were evaluated by a biochemistry analyzer.
Results: Higher prevalence of the mutant T allele and homozygous TT genotypes and biochemical parameters) like FBS, TG, and BUN) were seen in T2D patients compared to healthy subjects. For T2DM, the odds ratios (ORs) for the TT genotype and the T allele carrier were 3.1 (P=0.0001) and 2.6 (P=0.0001), respectively. In contrast to the significant association between the eNOS G894T polymorphism and T2D, we could not find a significant correlation to the DN. For DN, the ORs for the TT genotype and the T allele carrier were 1.1 (P=0.76) and 0.8 (P=0.6). For decreased epidermal growth factor receptor (EGFR) below 60 ml/min/ 1.73 m2 in diabetic patients, the OR for TT was 0.8 (P=0.7).
Conclusion: Our results confirm that the risk of T allele and TT genotype of the eNOS G894T polymorphism were significantly associated with T2D, The TT genotype of this polymorphism also conferred the risk of developing T2D, but they were not correlated with DN and decreased eGFR.
Methods: This case-control study was carried out at the diabetes specialist clinic of Golestan Hospital of Ahvaz Jundishapur University of Medical Sciences, Iran, from September 2016 to December 2017. The study comprised 132 patients with T2D (with and without nephropathy). They were compared to 66 normal subjects. The subjects were genotyped for the eNOS G894T polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Blood glucose, HbA1c, BUN, creatinine and urinary albumin were evaluated by a biochemistry analyzer.
Results: Higher prevalence of the mutant T allele and homozygous TT genotypes and biochemical parameters) like FBS, TG, and BUN) were seen in T2D patients compared to healthy subjects. For T2DM, the odds ratios (ORs) for the TT genotype and the T allele carrier were 3.1 (P=0.0001) and 2.6 (P=0.0001), respectively. In contrast to the significant association between the eNOS G894T polymorphism and T2D, we could not find a significant correlation to the DN. For DN, the ORs for the TT genotype and the T allele carrier were 1.1 (P=0.76) and 0.8 (P=0.6). For decreased epidermal growth factor receptor (EGFR) below 60 ml/min/ 1.73 m2 in diabetic patients, the OR for TT was 0.8 (P=0.7).
Conclusion: Our results confirm that the risk of T allele and TT genotype of the eNOS G894T polymorphism were significantly associated with T2D, The TT genotype of this polymorphism also conferred the risk of developing T2D, but they were not correlated with DN and decreased eGFR.
Zeynab Mahmoodian, Siros Naeimi , Mohammad Mahdi Moghanibashi, Khalil Khashei Varnamkhasti , Marzieh Alipour,
Volume 79, Issue 1 (4-2021)
Volume 79, Issue 1 (4-2021)
Abstract
Background: Despite years of continuous research, maternal mortality due to preeclampsia is still a serious threat. Researchers believe that preeclampsia is a multifactorial disease and proposed many risk factors including immunological factors for it. Given the description of preeclampsia as an excessive response of the immune system, the relationship between preeclampsia and immunological changes is of particular importance. Genetic polymorphisms are considered to be one of the causes of immunological defects. Due to the role of immunologic and inflammatory factors in the etiology of preeclampsia, in the present study, the association of rs1028181-513T/C polymorphism of interleukin 19 gene with preeclampsia in the patient and control groups who were referred to Valiasr hospital in Kazerun, was compared.
Methods: The present case-control study was conducted at Islamic Azad University of Kazerun from December 2016 to May 2017. 150 preeclampsia patients and 150 healthy pregnant women who were referred to Valiasr hospital in Kazerun, were enrolled. Genotypes of participants for the -513T/C (rs1028181) variant were determined by the Tetra Primer ARMS-PCR method. SPSS software and Chi-square statistical test were used for data analysis.
Methods: The present case-control study was conducted at Islamic Azad University of Kazerun from December 2016 to May 2017. 150 preeclampsia patients and 150 healthy pregnant women who were referred to Valiasr hospital in Kazerun, were enrolled. Genotypes of participants for the -513T/C (rs1028181) variant were determined by the Tetra Primer ARMS-PCR method. SPSS software and Chi-square statistical test were used for data analysis.
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Results: In the position of the -513T/C (rs1028181) polymorphism, a significant difference in frequency of all genotypes (CC, CT and TT) (P=0.001) and both alleles (C and T) (P=0.002) between preeclampsia pregnant women and healthy pregnant women was observed. There was no significant relationship between the other parameters of the study with the mentioned polymorphism in the patient and control groups.
Conclusion: Due to the significant relationship between (rs1028181) -513T/C polymorphism and the occurrence of preeclampsia, which emphasizes the role of genetic predisposition in the development of preeclampsia disease, the presence of this polymorphism can be considered as a predictor of preeclampsia and concluded that polymorphic genetic markers are good predictive strategies for early detection of preeclampsia before the twentieth week of pregnancy. |
Homayoun Tabesh, Azadeh Keivani Borojeni , Mohammad Bagher Sadeghi , Maedeh Rouigari, Mohammad Hesamian, Bahram Aminmansour, Hamidreza Khani ,
Volume 79, Issue 4 (7-2021)
Volume 79, Issue 4 (7-2021)
Abstract
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.
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.
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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. |
Mahnaz Safari, Pooneh Rahimi, Akram Sadat Tabatabaee Bafroee,
Volume 81, Issue 8 (11-2023)
Volume 81, Issue 8 (11-2023)
Abstract
Background: Understanding the complex processes of the immune system in dealing with the covid-19 infection, which is probably related to polymorphisms in cytokine and chemokine genes, can explain the pro-inflammatory condition of patients. Accordingly, in the present study, the correlation between the frequency of single nucleotide polymorphisms in the pro-inflammatory IFNAR2 gene and the severity of the disease of COVID-19 was investigated.
Methods: This research was reviewed by the ethics committee of the Pasteur Institute of Iran and was approved by this committee with the ethics code IR.PII.REC.1400.042. and continued from December 2021 to November 2022. This study was conducted on 954 patients with COVID-19, who were divided into two groups: those who recovered and those who died. COVID-19 infection in all 954 volunteers has been confirmed through rtReal Time-PCR of oropharyngeal or nasopharyngeal swabs.After taking blood samples from patients and extracting DNA, IFNAR2 gene was amplified using specific primers. Then RFPL method and Cac8I restriction enzyme were used to investigate rs2236757 polymorphisms in IFNAR2 gene. Genotype of people was determined according to the pattern of formed bands. The results were statistically analyzed using SPSS software.
Methods: This research was reviewed by the ethics committee of the Pasteur Institute of Iran and was approved by this committee with the ethics code IR.PII.REC.1400.042. and continued from December 2021 to November 2022. This study was conducted on 954 patients with COVID-19, who were divided into two groups: those who recovered and those who died. COVID-19 infection in all 954 volunteers has been confirmed through rtReal Time-PCR of oropharyngeal or nasopharyngeal swabs.After taking blood samples from patients and extracting DNA, IFNAR2 gene was amplified using specific primers. Then RFPL method and Cac8I restriction enzyme were used to investigate rs2236757 polymorphisms in IFNAR2 gene. Genotype of people was determined according to the pattern of formed bands. The results were statistically analyzed using SPSS software.
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Results: Calculation of genotypic frequency of rs2236757 polymorphism in IFNAR2 gene showed that in general 21% of cases had AA genotype, 47% GA genotype and 32% GG genotype. The allelic frequency of this polymorphism showed that 56% of cases had G allele and 44% had A allele. In investigating the correlation of rs2236757 polymorphism in IFNAR2 gene with the severity of the disease of Covid-19, the OR value for the GG genotype was equal to 1, which indicates the absence of the role of this polymorphism in the severity of the disease. On the other hand, A allele was significantly more in recovered people than in deceased people, and the value of OR<1 also confirmed this issue.
Conclusion: The results showed that rs2236757 in the IFNAR2 gene is related to the reduction of disease severity, which indicates the important role of genes related to inflammatory responses, as well as the role of genetic variants of these genes in the severity of COVID-19. |
Jamshid Ansari, Milad Pezeshki, Azam Ahmadi, Ali Chehrei,
Volume 81, Issue 9 (12-2023)
Volume 81, Issue 9 (12-2023)
Abstract
Background: Lung cancer has the highest incidence and mortality rate of all cancers worldwide. In Iran, it is one of the commonly diagnosed malignancies, and its frequency is increasing rapidly. Genetic variants in DNA repair genes are linked to differences in efficiency of repairing DNA damage, which can influence lung cancer susceptibility. EXO1 is a key gene involved in the mismatch repair pathway. The K589E polymorphism in EXO1 may alter the DNA repair activity of the encoded protein and impact lung cancer risk. The aim of this study was to investigate associations between the K589E polymorphism in EXO1 and lung cancer risk in the Iranian population, and evaluate its potential as a prognostic biomarker.
Methods: This case-control study was conducted to investigate EXO1 K589E variant with susceptibility to lung malignancy in the Iranian population. One hundred patients with lung cancer as a patient group and 100 healthy individuals from Khansari Hospital located in Markazi province were studied, from January 2020 to May 2022. DNA extraction from blood samples of participants was done using a kit. Genotype determination of both patient and control groups was done using PCR-RFLP technique. Finally, statistical results were analyzed using SPSS software and the logistic regression method.
Methods: This case-control study was conducted to investigate EXO1 K589E variant with susceptibility to lung malignancy in the Iranian population. One hundred patients with lung cancer as a patient group and 100 healthy individuals from Khansari Hospital located in Markazi province were studied, from January 2020 to May 2022. DNA extraction from blood samples of participants was done using a kit. Genotype determination of both patient and control groups was done using PCR-RFLP technique. Finally, statistical results were analyzed using SPSS software and the logistic regression method.
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Results: Genotype and allele frequency analysis showed the AA genotype (P=0.004, OR=5.391, 95% CI: 1.690-17.200) and A allele (P=0.010, OR=2.851, 95% CI: 1.291-6.300) were correlated with susceptibility to lung cancer. On the other hand, people carrying the G variant allele had a lower risk of lung cancer.
Conclusion: In summary, this study found the AA genotype and A allele of K589E in EXO1 are correlated with risk of lung cancer in Iranians, while the G allele has protective effects. The K589E polymorphism may serve as a prognostic biomarker for lung cancer susceptibility, but more studies with high population size are required. |
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