3d16e7b5-139f-47c6-a620-7ff60c1bb06e
title
Association of the T-cell regulatory gene  CTLA4  with Graves' disease and autoimmune thyroid disease in the Japanese.
aab3d27b-502a-476c-a424-42554c09f768
abstract
Autoimmune thyroid disease (AITD) is caused by an immune response to self-thyroid antigen. The  cytotoxic T-lymphocyte antigen-4  (  CTLA4 ) gene, encoding a negative regulator of the T-lymphocyte immune response, had been reported to be associated and/or linked to AITD. Recently, AITD susceptibility in the Caucasians was mapped to the 6.1-kb 3'UTR of the  CTLA4  gene, in which the three single-nucleotide polymorphisms (SNPs)  CT60 ,  JO31 , and  JO30  were strongly associated with AITD. In order to determine the association of the  CTLA4  gene with AITD in the Japanese, case-control association analysis for the four SNPs of the  CTLA4  gene using 380 AITD patients and 266 healthy controls was done. Among the SNPs examined, the SNP  JO31  was most significantly associated with AITD in the Japanese, whereas the association of the  JO30  with AITD was not observed. The frequency of the disease-susceptible G allele of the  JO31  of the Japanese control was higher than that of the Caucasians (67.1% vs 50.2%); however, the G allele of the  JO31  was associated with Graves' disease (GD) (67.1% vs 76.3%, P=0.0013) and AITD in the Japanese (67.1% vs 74.2%, P=0.0055). Furthermore, the G allele of the  JO31  was associated with the increased risk for GD [ P=0.0051, odds ratio (OR)=1.7] and AITD ( P=0.016, OR=1.5) in a dominant model. These results suggested that the  CTLA4  gene is involved in the susceptibility for GD and AITD in the Japanese.