Showing 6 results for Gene Polymorphism
Mana Shojapuor, Ghasem Mosayebi, Keyvan Ghasami, Ali Ghazavi, Abdolrahim Sadeghi,
Volume 15, Issue 4 (9-2012)
Abstract
Background: Multiple sclerosis (MS) is an autoimmune disease which demyelinates the central nervous system. Vitamin D, is a potential environmental factor which influences this disease. The majority of the biological activities of the polymorphism forms of vitamin D are done through its receptor gene (VDRG). The aim of this study was to examine the relationship between BsmI polymorphisms in VDRG and the incidence of MS. Materials and Methods: In this case-control study, the BsmI polymorphism in the VDRG was studied in 80 Iranian MS patients and 50 healthy controls of the same genetic background and age through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method Results: There was a significant difference in the frequency of BsmI VDRG polymorphism genotypes between MS patients and controls (P=0.023). Conclusion: This study indicated that the VDRG BsmI polymorphism is associated with MS in this population.
Nasim Abbasi, Zivar Salehi, Yosef Alizadeh ,
Volume 17, Issue 9 (12-2014)
Abstract
Background: Diabetic retinopathy (DR) is a severe complication of diabetes and the leading cause of blindness among working adults worldwide. Chronic extra cellular hyperglycemia in diabetes stimulates reaction oxygen species (ROS) production and increase oxidative stress. Glutathion S- transferases (GSTs) enzymes have been shown to protect human from reactive oxygen compounds damage. The aim of the present study was to investigate whether the genetic polymorphism of GSTP1 is associated with DR.
Materials and Methods: This case–control study, included 70 patients with DR and 70 healthy volunteers. Genomic DNA was extracted from peripheral blood leukocytes. Genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Statistical analysis was performed using the MedCalc program for Windows version 12.
Results: The prevalence of genotype frequencies of the GSTP1 Ile/Ile and Ile/Val were 71.42% and 28.57% respectively, in DR subject, whiles in healthy volunteers were 78.58% and 21.42%, respectively. Statistical analysis has not emerged significant difference from the comparison of either genotype (&Rho>0.05).
Conclusion: There was no evidence that GSTP1 variants were associated with DR in studied population. Further research is required to clarify role of GSTP1 in DR.
Fateme Asali Salek Moalemi, Leila Asali Salek Moalemi, Zivar Salehi,, Seyed Habib Zayeni,
Volume 17, Issue 10 (1-2015)
Abstract
Background: Rheumatoid arthritis is a chronic inflammatory disorder that mainly affects the peripheral joints and surrounding tissue. Genetic and environmental factors have important roles in pathogenesis. The role of oxidative stress and the enzymes involved in the pathogenesis of rheumatoid arthritis have been studied in these years. A predominant role in counteracting reactive oxygen spieces is played by endogenous antioxidant enzymes, and glutathion peroxidase (GPx). An alteration of CTC codon to CCC codon which results in substitution of leucine instead of proline in 198th amino acid location is one of the important polymorphisms of this gene. The aim of this study was to evaluate the association of GPx1 gene polymorphism in patients with rheumatoid artheritis.
Materials and Methods: The case-control study included 130 patients with rheumatoid artheritis and 126 healthy individuals. Genomic DNA was extracted from white blood cells and the genotypes were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP). Statistical analysis was carried using the MedCalc (version 12.1).
Results: The frequencies of CC, CT and TT genotypes of GPx1gene were 32.31%, 43.08% and 24.61% respectively, in rheumatoid arthritis patients, whiles in healthy volunteers were 42.62%, 54.10% and 3.28%. Statistical results showed significant relationship between TT genotype of GPx1 gene and Rheumatoid arthritis (p=0.002, &chi2 =11.715, OR: 9.90 95% CI (2.04 to 48.01)).
Conclusion: In conclusion, these results indicate that TT genotype of GPx1 gene may be associated with the risk of rheumatoid artheritis in the studied population. However, further research is required to clarify the role of gene polymorphism in rheumatoid arthritis.
Mahsa Kazemi Roodsari, Farhad Mashayekhi,
Volume 20, Issue 9 (12-2017)
Abstract
Abstract
Background: Matrix metalloproteinases (MMPs) are vital for the degradation/remodeling of the extra-cellular matrix, and are involved in spiral artery formation and invasion of endometrium during implantation. Tissue inhibitor of metalloproteinase 1 (TIMP1), is expressed in the several tissues of organisms and inhibits MMP activity. The aim of this investigation was to study the association between single-nucleotide polymorphism (SNP) in the TIMP1 (rs4898) (372 T/C) with in vitro fertilization and embryo transfer (IVF-ET) outcome by AS-PCR.
Materials and Methods: A total number of 200 blood samples including 100 IVF negative and 100 IVF positive (control) were collected in this study. DNA was extracted for TIMP1 genotyping. The genotype and allele frequencies of 372T/C polymorphism were examined by Allele-Specific PCR.
Results: The genotype frequencies of CC, CT and TT in 372 T/C polymorphism of TIMP1 gene in IVF- samples were 1%, 98% and 1%, respectively, while for IVF+ group were 7%, 91% and 2%, respectively (p=0.07). The allele frequencies of C and T in the IVF- were 50%, 50%, respectively and in IVF+ were 47.5%, 52.5%, respectively. The genotype and allele frequencies of TIMP1 rs4898 (372 T/C) did not differ between the patients and the control group (p=0.07 and p=0.68, respectively).
Conclusion: The results of this study indicate that SNP 372T/C of TIMP1 may not be associated with IVF-ET outcome in this population. Further studies with larger numbers of patients and controls are needed to confirm our results.
Hamed Abbasi Soltani, Farzad Zehsaz,
Volume 21, Issue 5 (10-2018)
Abstract
Background and Aim: one of the key concepts in physical education and sport science is the process of talent identification. The purpose of this research was to investigate the effect of PPARα gene polymorphism on some of the athletic performances of non-athlete 10-12-year-old children.
Materials and Methods: The present project was carried out in the form of semi-experimental and field-based research with salivary sampling. To determine the polymorphism of the genes, the methods used included saliva sampling, salvary DNA extraction and PCR-RFLP method and exercise tests included the Shuttle run, standing broad jump and 20m sprint. Our subjects consisted of 118 non-athletic healthy boys of Marand from 10 to 12 years old. After comparison with Hardy-Weinberg equilibrium, frequency of genotype was tested with Leven, Fisher and Kolmogorov-Smirnov tests. Using one-way covariance analysis, the mean group phenotypes was compared with each other. Type of polymorphism as a predestine variable and the athletic performances of 20m shuttle run, standing broad jump and 20m sprint test were considered as the criterion variable. All analyzes were performed by SPSS 22.
Findings: The results showed that the subjects with PPARα gene GG polymorphism had better performance in the endurance tests than subjects with CC and GC polymorphism.
Conclusion: It can be concluded that GG polymorphism is related to the endurance activities, but CC and GC polymorphisms do not have a particular predominance in the endurance, speed and power activities. |
Amir Najafi, Mohammad Amin Momeni-Moghaddam, Dr Davoud Salarbashi, Narges Amini Beidokhti, Marziye Rahmani, Milad Khorasani,
Volume 27, Issue 3 (7-2024)
Abstract
Introduction: Type 2 diabetes is a non-communicable disease that imposes a significant financial burden on the healthcare system each year. Numerous studies have demonstrated the involvement of inflammatory factors in the initiation and progression of this condition. The primary goal of this study is to compare the polymorphism of the interleukin 1 receptor antagonist gene among individuals with type 2 diabetes and those in the control group.
Methods: Following approval from the Ethics Committee of Gonabad University of Medical Sciences, blood samples were collected from 100 participants at Bohlool Hospital in Gonabad. These individuals were categorized into two groups: cases (individuals with type 2 diabetes) and controls (healthy individuals). DNA extraction was carried out using the salting out method. To examine the polymorphism, the specific segment was initially amplified through PCR with designated primers and then identified via gel electrophoresis. The data were analyzed using subjected to the Chi-square test at a significance level below 5%.
Results: Findings from the polymorphism analysis revealed a notable contrast in the genotype 2/1 (P = 0.001) and 2/2 (P = 0.004) within the case group when compared to the healthy participants. Specifically, individuals with genotype 2/1 exhibited a heightened risk of developing type 2 diabetes by up to 15 times.
Conclusions: Within the examined population, the polymorphism of the interleukin 1 receptor antagonist gene substantially influenced the predisposition to type 2 diabetes, amplifying the likelihood of developing this ailment. Individuals harboring allele 2 are at an increased susceptibility to type 2 diabetes.
