Premium
Single nucleotide polymorphism rs2229634 in the ITPR3 gene is associated with the risk of developing coronary artery aneurysm in children with Kawasaki disease
Author(s) -
Huang Y.C.,
Lin Y.J.,
Chang J.S.,
Chen S.Y.,
Wan L.,
Sheu J. J.C.,
Lai C.H.,
Lin C.W.,
Liu S.P.,
Chen C.P.,
Tsai F.J.
Publication year - 2010
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2010.00943.x
Subject(s) - kawasaki disease , single nucleotide polymorphism , medicine , odds ratio , genotype , coronary artery disease , snp , gastroenterology , vasculitis , rheumatoid arthritis , systemic vasculitis , endocrinology , immunology , disease , gene , artery , genetics , biology
Summary Kawasaki disease (KD) is the most common form of pediatric vasculitis. Though its etiology is unknown, researchers have suggested that it is related to genetics. The inositol 1,4,5‐triphosphate receptor type 3 ( ITPR3 ) gene has a strong association with the development of type 1 diabetes and, plays a critical role in the development of autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Graves’ disease. The aim of study is to examine the association of ITPR3 polymorphisms with KD risk in Taiwanese children. This study evaluates the single nucleotide polymorphisms (SNP) rs2229634 in the ITPR3 gene with KD in a case‐control study involving 93 KD patients and 680 healthy, gender‐ and age‐matched controls. The frequency of the rs2229634 T/T genotype was significantly higher in KD patients with coronary artery aneurysm (CAA) than in patients without CAA [odds ratio (OR) = 2.56, 95% confidence interval (95% CI) = 1.35–4.88, P = 0.004]. In addition, KD patients with the T/T genotype elevated mean serum levels of C‐reactive protein compared with patients with the C/C or C/T genotype (12.2 mg dL −1 vs. 8.5 mg dL −1 , P = 0.036). In conclusion, the results of this study suggest that the rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese KD patients.