Bioimpacts. 2016;6(4):187-193.
doi: 10.15171/bi.2016.25
PMID: 28265534
PMCID: PMC5326666
Scopus id: 85013115080
  Abstract View: 328
  PDF Download: 378
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Original Research

Association study of IL2RA and CTLA4 Gene Variants with Type I Diabetes Mellitus in children in the northwest of Iran
Association study of IL2RA and CTLA4 gene variants with type-1 diabetes mellitus in children in the northwest of Iran

Mohammad Reza Ranjouri 1, Parisa Aob 1, Sima Mansoori Derakhshan 2, Mahmoud Shekari Khaniani 2, Hossein Chiti 3, Ali Ramazani 4 *

1 Student Research Committee, Zanjan University of Medical Sciences, Zanjan, Iran
2 Medical Genetics Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
3 Zanjan Metabolic Disease Research Center, Zanjan University of Medical Sciences, Zanjan, Iran
4 Biotechnology Department, School of Pharmacy, Zanjan University of Medical Sciences, Zanjan, Iran


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 of CTLA4 (exon 1) and IL2RA (intron 1) genes in all patients and controls. SNPStats was used to calculate odds ratios (ORs), 95% confidence intervals (CIs), and p values.
Results: In this study, the frequency of G allele and GG genotype of CTLA-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 between IL2RA (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 the CTLA4 gene in the population of northwest of Iran. However, no significant relationship was observed between ss52580101C>A polymorphism of IL2RA gene and T1D in this study.
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Submitted: 09 Jul 2016
Revised: 26 Sep 2016
Accepted: 05 Oct 2016
First published online: 04 Dec 2016
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