title: Association study ofIL2RAandCTLA4Gene Variants with Type I Diabetes Mellitus in children in the northwest of Iran.
abstract: Introduction:A variety of genetic predisposing factors and environmental factors are known to influence the pathogenesis of type-1 diabetes (T1D). This study intended to investigate the association of cytotoxic T-lymphocyte associated protein 4 (CTLA4) and interleukin 2 receptor subunit alpha (IL2RA) gene polymorphisms with type 1 diabetes in children of northwest of Iran.Methods:Genomic DNA was extracted by salting-out method. PCR amplification and direct sequencing methods were used for genotyping ofCTLA4(exon 1) andIL2RA(intron 1) genes in all patients and controls. SNPStats was used to calculate odds ratios (ORs), 95% confidence intervals (CIs), andpvalues.Results:In this study, the frequency of G allele and GG genotype ofCTLA-4(+49A/G) polymorphism in T1D patients were significantly different from those in the controls (26% vs. 11%,p= 0.006). Moreover, a significant difference was observed between patients and control group in the allele frequencies of the new SNP (chr2:203868145) that was identified in exon one of CTLA4 (14% vs. 3%,p= 0.006). The results showed that the GG homozygous genotype of +49 A>G was associated with increased glycemic level in T1D patients in the study population (95% CI = 10.47,p= 0.0067). However, no significant association was found betweenIL2RA(ss52580101C>A) polymorphism and T1D patients (2% vs. 4%, p = 0.41).Conclusion:The results further support the association of T1D with +49A>G SNP in theCTLA4gene in the population of northwest of Iran. However, no significant relationship was observed between ss52580101C>A polymorphism ofIL2RAgene and T1D in this study.
authors.affiliation: Student Research Committee, Zanjan University of Medical Sciences, Zanjan, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Ranjouri
authors.affiliation: Student Research Committee, Zanjan University of Medical Sciences, Zanjan, Iran.
authors.forename: Parisa
authors.initials: P
authors.lastname: Aob
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Sima
authors.initials: S
authors.lastname: Mansoori Derakhshan
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Shekari Khaniani
authors.affiliation: Zanjan Metabolic Disease Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Chiti
authors.affiliation: Biotechnology Department, School of Pharmacy, Zanjan University of Medical Sciences, Zanjan, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Ramazani
keywords: CTLA4; IL2RA; SNP; Type 1 diabetes (T1D)