title: Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabetes mellitus in the Iranian Kurdish population.
abstract: Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) has an inhibitory function on T cells and is critical for the induction of peripheral tolerance. CTLA-4 +49 G allele affects the CTLA-4 function and has been reported to be correlated with a higher risk of various autoimmune diseases including type 1 diabetes (T1D). The present study was conducted to investigate the association between the polymorphism of the CTLA-4 exon 1+49 A/G and susceptibility to TID and type 2 diabetes (T2D) in Kurds living in Iranian Kurdistan. The+49 A/G polymorphism was analyzed in 60 patients with T1D, 56 patients with T2D and 107 control subjects using PCR Single-strand Conformation Polymorphism (SSCP) and restriction fragment length polymorphism methods. All studied populations (T1D, T2D and Controls) were in Hardy-Weinberg equilibrium (p, 0.39, 0.94 and 0.89, respectively). Both+49 G allele (p = 0. 015, OR = 1.86) and +49 A/G genotype frequencies (p = 0. 012, OR = 2.31) were significantly higher in T1D patients than control. There was significant over-representation of the G allele in female T1D patients. No significant differences in +49 G allele and +49 A/G genotype frequencies were found between T2D and control subjects. SSCP analysis did not show new mutation in the amplified segment. The results of this study indicate that CTLA-4+49 A/G gene polymorphism confers genetic susceptibility to T1D but not T2D in the Kurdish population living in Iranian Kurdistan and women carrying the +49 G allele are at greater risk of getting T1D than men having the G allele.
authors: Cellular and Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.
authors: Slahadin
authors: S
authors: Ahmadi
authors: Cellular and Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.
authors: Jalal
authors: J
authors: Rostamzadeh
authors: Cellular and Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.
authors: Darya
authors: D
authors: Khosravi
authors: Laboratory of Genetics, Department of Animal Sciences, University of Kurdistan, Sanandaj, Iran.
authors: Parvin
authors: P
authors: Shariati
authors: Kurdistan Diabetes Center, Tohid hospital, Sanandaj, Iran.
authors: Nadia
authors: N
authors: Shakiba
mesh_terms: D018912:Arabs / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics*; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007492:Iran / Q000453:epidemiology; D008297:Male; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D060908:CTLA-4 Antigen