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Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan.
Genes and Immunity ( IF 5 ) Pub Date : 2007-12-07 , DOI: 10.1038/sj.gene.6364445 P-L Chen , C S-J Fann , C-C Chang , I-L Wu , W-Y Chiu , C-Y Lin , W-S Yang , T-C Chang
Genes and Immunity ( IF 5 ) Pub Date : 2007-12-07 , DOI: 10.1038/sj.gene.6364445 P-L Chen , C S-J Fann , C-C Chang , I-L Wu , W-Y Chiu , C-Y Lin , W-S Yang , T-C Chang
Graves' disease (GD) is a common organ-specific autoimmune disorder inherited as a complex trait. Although there has not been consensus regarding the genuine susceptibility alleles, many population-based genetic studies showed association of the cytotoxic T-lymphocyte antigen-4 (CTLA4) gene with GD. In contrast, evidence utilizing family-based studies came only from the Caucasian population. Here we performed a family-based association study in the Han population in Taiwan. We enrolled 374 affected individuals and 347 unaffected family members in 151 GD pedigrees. Four single-nucleotide polymorphisms (SNP) and a short tandem repeat polymorphism (STRP) at CTLA4 were genotyped. Association of GD with a novel risk SNP at the 5' upstream region, CTLA4_-1722_T/C (rs733618), was demonstrated (P=0.0096). We also replicated the association signal of a coding SNP, CTLA4_+49_G/A (rs231775, P=0.0219). A common haplotype composed of CTLA4_-1722_T/C and CTLA4_(AT)n (an STRP marker: UniSTS:48500) showed protective effect (P=0.0004). Our results of family-based association study, taken together with those from the Caucasian population, provide evidence that CTLA4 confers susceptibility to GD across different ethnic backgrounds.
更新日期：2019-11-01
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