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ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease

 Kyu Yeun Kim  ;  Yoon Sun Bae  ;  Woohyuk Ji  ;  Dongjik Shin  ;  Ho Seong Kim  ;  Dong Soo Kim 
 YONSEI MEDICAL JOURNAL, Vol.59(1) : 119-127, 2018 
Journal Title
Issue Date
Asian Continental Ancestry Group/*genetics ; BCG Vaccine/administration & dosage ; Case-Control Studies ; Cation Transport Proteins/*genetics ; Child ; Preschool Child ; Genetic *Epistasis ; Erythema/complications ; Female ; Genetic Association Studies ; *Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome/*genetics ; Mutation Rate ; Phosphotransferases (Alcohol Group Acceptor)/*genetics ; Single Nucleotide/*genetics Polymorphism ; Republic of Korea
ITPKC gene ; Kawasaki disease ; Korean ; SLC11A1 gene ; gene-gene interaction ; polymorphism
PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guerin (BCG) injection sites observed in the disease are poorly understood. We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. MATERIALS AND METHODS: Associations between KD and SNPs in two genes were evaluated. Potential associations between BCG injection site erythema and SNPs in two genes were also evaluated. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. SNP rs77624405 in SLC11A1 was associated with KD. Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema; no erythema-associated SNPs in ITPKC were identified. Interactions between ITPKC rs28493229_GG and SLC11A1 rs17235409_GA and between ITPKC rs10420685_GG and SLC11A1 rs17235409_AA were strongly associated with BCG injection site erythema. CONCLUSION: This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The genetic variants identified in this study affected KD and erythema of BCG injection sites independently and through gene-gene interactions. Also, the effects of the polymorphisms were age-dependent.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Soo(김동수)
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