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Updated: Jun 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the
Su Kang Kim1, Sung Wook Kang, Joo-Ho Chung
1Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Hoegi-dong, Dongdaemun-gu, Seoul, 130-701, Republic of Korea.
Abstract:
This study aimed to examine whether coding single-nucleotide polymorphisms (cSNPs) of the interleukin-1 gene cluster [interleukin-1-alpha (IL1α), IL1β, IL-1-receptor antagonist (IL1RN)] are genetic markers of susceptibility to Kawasaki disease (KD) in the Korean population. The study enrolled 109 KD patients and 287 healthy control subjects. Four cSNPs [rs17561 (Ala114Ser) of IL1α, rs1143634 (Phe105Phe) of IL1β, and rs419598 (Ala23Ala) and rs315952 (Ser96Ser) of IL1RN] were genotyped using the restriction fragment-length polymorphism (RFLP) and direct sequencing. The KD patients were divided into two groups according to the presence of coronary artery lesions (CALs). For genetic analysis, SNPStats, HapAnalyzer, Helixtree, and SNPAnalyzer were used. The allele and genotype frequencies of the IL1 gene cluster polymorphisms in the KD patients had a pattern similar to that in the control subjects. Furthermore, no association was observed between four cSNPs of the IL1 gene cluster and the development of CALs in KD. These results suggest that the IL1 gene cluster may not be associated with susceptibility to KD and the development of CALs in the Korean population.
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