Open AccessAssociation between the TAP2 gene codon 665 polymorphism and Graves' Disease
Author(s) -
Chen RongHsing,
Wang TzeYuan,
Chen WenChi,
Tsai ChangHai,
Tsai FuuJen
Publication year - 2006
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.20107
Subject(s) - allele , genotype , heterozygote advantage , allele frequency , polymorphism (computer science) , medicine , gene , compound heterozygosity , genetics , graves' disease , biology , microbiology and biotechnology , gastroenterology , disease
A total of 95 patients with active Graves' disease (GD) and 105 normal healthy subjects were enrolled in this study, which attempted to determine whether single‐site polymorphisms of the transporter associated with antigen processing 2 ( TAP2 ) gene contribute to an individual's susceptibility to GD. Such polymorphisms were detected using polymerase chain reaction (PCR)‐based restriction analysis. Associations between GD and the three site polymorphisms of the TAP2 gene at codons 379, 565, and 665 were investigated. The results of the genotype analysis revealed that the frequency of the GG homozygote's presence at codon 665 was lower, and that of the AA homozygote's presence was greater in GD patients (15.8% and 36.8%, respectively) compared to normal controls (34.3% and 16.2%, respectively; P <0.001). The OR (OD) for the risk of occurrence for the AA homozygote and AG heterozygote compared to the GG homozygote (as was the case for the GD patients) was respectively 4.941 and 2.117, with respective 95% confidence intervals (CI) of 2.303–10.598 and 1.020–4.369. The allelic analysis also demonstrated reduced G and enhanced A allele frequencies for GD patients compared to controls (respectively 39.5% vs. 59.0% [G allele], and 60.5% vs. 41.0% [A allele]; P= 0.0001; OR=2.219, 95% CI: 1.449–3.395). By contrast, the differences between patient and control groups for the frequency of appearance of genotypes and allelic variants at codon 379 ( P= 0.522 and P= 0.306, respectively) and codon 565 ( P= 0.199 and P= 0.157, respectively) did not appear to be significant. These data reveal that the single‐site polymorphism of the TAP2 gene at codon 665 may be an indicator for predicting GD development. J. Clin. Lab. Anal. 20:93–97, 2006. © 2006 Wiley‐Liss, Inc.