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- Title
Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan.
- Authors
Chen, P.-L.; Fann, C. S.-J.; Chang, C.-C.; Wu, I.-L.; Chiu, W.-Y.; Lin, C.-Y.; Yang, W.-S.; Chang, T.-C.
- Abstract
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.Genes and Immunity (2008) 9, 87–92; doi:10.1038/sj.gene.6364445; published online 6 December 2007
- Subjects
TAIWAN; GRAVES' disease; T cells; GOITER; HYPERTHYROIDISM
- Publication
Genes & Immunity, 2008, Vol 9, Issue 2, p87
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6364445