Association of cytotoxic T lymphocyte antigen-4 gene polymorphisms and HLA class II alleles with the development of type 1 diabetes in Korean children and adolescents

• Published in: Journal of Korean medical science 2009, 24(6), 133, pp.1004-1009
• Main Authors: Jung, Min Ho, Yu, Jeesuk, Shin, Choong Ho, Suh, Byung Kyu, Yang, Sei Won, Lee, Byung Churl
• Format: Article
• Language: English
• Subjects: Adolescent; Alleles; Antigens, CD - genetics; Asian Continental Ancestry Group - genetics; Child; Child, Preschool; CTLA-4 Antigen; Diabetes Mellitus, Type 1 - genetics; Female; Histocompatibility Antigens Class II - genetics; Humans; Korea; Male; Original; Polymorphism, Genetic; 의학일반
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2009.24.6.1004

We studied the association of cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms with the development of type 1 diabetes (T1D) in Korean children and adolescents. A total of 176 Korean subjects (92 females and 84 males) with childhood-onset T1D were studied. The A/G polymorphism at position 49 in CTLA4 exon 1 and the C/T polymorphism at position -318 in the CTLA4 promoter were analyzed by PCR-RFLP methods. The genotype and allele frequencies of the CTLA4 polymorphisms in the T1D patients were not different from those in the controls. These polymorphisms were not associated with the clinical characteristics or the development of autoimmune thyroid disease in the T1D patients. The frequency of the A allele was significantly higher in the patients that did not have two out of the three susceptible HLA-DRB1 alleles, which were DRB1*0301, *0405 and *09012, compared to the controls (P