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The common -318C/T polymorphism in the promoter region of CTLA4 gene is associated with reduced risk of ophthalmopathy in Chinese Graves' patients.

Authors: Han, SZ  Zhang, SH  Li, R  Zhang, WY  Li, Y 
Citation: Han SZ, etal., Int J Immunogenet. 2006 Aug;33(4):281-7.
Pubmed: (View Article at PubMed) PMID:16893393
DOI: Full-text: DOI:10.1111/j.1744-313X.2006.00614.x

Studies in the past have clearly established that CTLA4 is a susceptible gene for Graves' disease (GD). However, association studies between CTLA4 and the risk of developing Graves' ophthalmopathy (GO) in GD patients have shown conflicting results. In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722A/G, -1661A/G, -318C/T, +49G/A, CT60) with GD risk and GO susceptibility in GD patients were investigated in a Chinese population. Our results showed that either +49A/G or CT60 polymorphism was associated with GD susceptibility in the Chinese population. Significant differences in the distribution of the genotypes or alleles evaluated between GD patients with and without clinically evident GO were only found for -318C/T polymorphism (P = 0.03). Multiple logistic regressions revealed that the -318T allele was negatively associated with GO under both additive and dominant genetic models (adjusted OR = 0.56, 95%CI 0.35-0.89, P = 0.014; adjusted OR = 0.51, 95%CI 0.30-0.84, P = 0.009, respectively). Stratification analysis according to gender demonstrated different scenarios concerning the role of the -318T allele in GO risk: a significant protective role for GO was only confirmed in male but not in female GD patients. Haplotype analyses showed that only the haplotypes containing the -318T allele played a protective role in GO. In conclusion, results from this study suggested that the -318T allele might play a protective role in GO susceptibility for GD patients at least in the Chinese population. However, extended analyses with larger sample size should be carried out in patients from different ethnic origins to further verify this association.

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RGD Object Information
RGD ID: 7421511
Created: 2013-11-20
Species: All species
Last Modified: 2013-11-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.