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CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population.
Ann Clin Lab Sci. 2005 Summer; 35(3):259-64.AC

Abstract

Graves' disease (GD) is an autoimmune disease but the underlying etiology has not been completely elucidated. Genetic susceptibility has been believed to play a major role. Recent studies showed that the CT60 single nucleotide polymorphism (SNP), which is in the 3'-noncoding region of the CTLA-4 gene, is strongly associated with some immune-mediated diseases. The aim of this study was to test for association between GD susceptibility and polymorphisms of CTLA-4 (ie, the CT60 SNP and the exon 1 +49 SNP) in the Taiwanese population. Our results demonstrate significant differences in the frequencies of the genotypes and alleles between 107 GD patients and 101 control subjects in the CT60 and exon 1 +49 SNPs (p <0.05). Significant differences in phenotypes were only found for CT60 SNP (78.4% vs 67.8% between patients and controls; chi2 = 3.93, p = 0.047). Furthermore, we found that the G/G genotype of both CT60 and exon 1 +49 was associated with increased risk for GD (p = 0.022, OR = 1.97). Significant linkage disequilibrium was found between the CT60 SNP and the exon 1 +49 SNP in both GD patients and control subjects (D' = 1.00). Because of tight linkage disequilibrium, a combination of these SNPs enhanced the role of the CTLA-4 gene in GD. The frequency of the disease-susceptible G allele of CT60 was comparable to that in Japanese and higher than in Caucasians. In conclusion, we provide evidence that CT60 SNP is associated with susceptibility to GD in the Taiwanese population.

Authors+Show Affiliations

Clinical Laboratory, SinLau Children Hospital, Taiwan, ROC.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16081581

Citation

Weng, Yu-Ching, et al. "CT60 Single Nucleotide Polymorphism of the CTLA-4 Gene Is Associated With Susceptibility to Graves' Disease in the Taiwanese Population." Annals of Clinical and Laboratory Science, vol. 35, no. 3, 2005, pp. 259-64.
Weng YC, Wu MJ, Lin WS. CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population. Ann Clin Lab Sci. 2005;35(3):259-64.
Weng, Y. C., Wu, M. J., & Lin, W. S. (2005). CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population. Annals of Clinical and Laboratory Science, 35(3), 259-64.
Weng YC, Wu MJ, Lin WS. CT60 Single Nucleotide Polymorphism of the CTLA-4 Gene Is Associated With Susceptibility to Graves' Disease in the Taiwanese Population. Ann Clin Lab Sci. 2005;35(3):259-64. PubMed PMID: 16081581.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population. AU - Weng,Yu-Ching, AU - Wu,Ming-Jiuan, AU - Lin,Wei-Sen, PY - 2005/8/6/pubmed PY - 2006/12/22/medline PY - 2005/8/6/entrez SP - 259 EP - 64 JF - Annals of clinical and laboratory science JO - Ann. Clin. Lab. Sci. VL - 35 IS - 3 N2 - Graves' disease (GD) is an autoimmune disease but the underlying etiology has not been completely elucidated. Genetic susceptibility has been believed to play a major role. Recent studies showed that the CT60 single nucleotide polymorphism (SNP), which is in the 3'-noncoding region of the CTLA-4 gene, is strongly associated with some immune-mediated diseases. The aim of this study was to test for association between GD susceptibility and polymorphisms of CTLA-4 (ie, the CT60 SNP and the exon 1 +49 SNP) in the Taiwanese population. Our results demonstrate significant differences in the frequencies of the genotypes and alleles between 107 GD patients and 101 control subjects in the CT60 and exon 1 +49 SNPs (p <0.05). Significant differences in phenotypes were only found for CT60 SNP (78.4% vs 67.8% between patients and controls; chi2 = 3.93, p = 0.047). Furthermore, we found that the G/G genotype of both CT60 and exon 1 +49 was associated with increased risk for GD (p = 0.022, OR = 1.97). Significant linkage disequilibrium was found between the CT60 SNP and the exon 1 +49 SNP in both GD patients and control subjects (D' = 1.00). Because of tight linkage disequilibrium, a combination of these SNPs enhanced the role of the CTLA-4 gene in GD. The frequency of the disease-susceptible G allele of CT60 was comparable to that in Japanese and higher than in Caucasians. In conclusion, we provide evidence that CT60 SNP is associated with susceptibility to GD in the Taiwanese population. SN - 0091-7370 UR - https://www.unboundmedicine.com/medline/citation/16081581/CT60_single_nucleotide_polymorphism_of_the_CTLA_4_gene_is_associated_with_susceptibility_to_Graves'_disease_in_the_Taiwanese_population_ L2 - http://www.annclinlabsci.org/cgi/pmidlookup?view=long&amp;pmid=16081581 DB - PRIME DP - Unbound Medicine ER -