J Korean Med Sci.  2009 Dec;24(6):1004-1009. 10.3346/jkms.2009.24.6.1004.

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

• Jung MH
• Yu J
• Shin CH
• Suh BK
• Yang SW
• Lee BC

• KMID: 1783125
• DOI: http://doi.org/10.3346/jkms.2009.24.6.1004

Abstract

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<0.05). These results suggest that CTLA4 polymorphisms do not directly confer any susceptibility to T1D. However, a CTLA4-mediated susceptibility effect on the development of T1D might be significant in children and adolescents that do not have susceptible HLA class II alleles.

Keyword

Diabetes Mellitus, Type 1; Genes; Cytotoxic T-lymphocyte Antigen 4; HLA

MeSH Terms

Adolescent
Alleles
Antigens, CD/*genetics
Asian Continental Ancestry Group/*genetics
Child
Child, Preschool
Diabetes Mellitus, Type 1/*genetics
Female
Histocompatibility Antigens Class II/*genetics
Humans
Korea
Male
*Polymorphism, Genetic

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