Interleukin-21 receptor gene polymorphisms in Kawasaki disease

Mi Hyun Kim, Yon Jung Bae, Hyun Keun Lee, Yeong Ro Lee, Dong Hoon Lee, Kiho Bae, Sang Baek Koh, Mee Kyung Namgoong, Byung Ho Cha, Hae Yong Lee

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2 Citations (Scopus)


Background and Objectives: Interleukin-21 receptor (IL-21R) gene polymorphism is related with the development of systemic vasculitis. In this study, we investigated the polymorphisms of IL-21R gene in patients with Kawasaki disease (KD). Subjects and Methods: We genotyped the promoter region of IL-21R gene (-2500 bp to +1 bp) in 100 patients with KD and 100 healthy controls. All study subjects were Korean. We designed five pairs of primers and performed polymerase chain reaction (PCR) and direct sequencing. We analyzed whole promoter sequences of 200 individuals with comparison to reference sequences of IL-21R gene (NG-012222.1/NC-000016.9). Results: We found five single nucleotide polymorphisms (SNPs) of which minor allele frequency (MAF) >0.01 in the promoter region of IL-21R gene. Those are -1681 G>T (chromosome site 27411802), -379 G>A (27413104), -332 G>C (27413151, rs2214537), -237 A>T (27413246), and -53 G>A (27413430). There is no significant difference in MAF of each SNP between patients with KD and healthy controls except -237 A>T. Twenty five patients with KD had more than 1 SNP in contrast to only seven healthy controls had. The patients with KD have significantly more IL-21R gene polymorphisms than controls (odds ratio: 3.0, 95% confidence interval: 1.6-5.6, p=0.0005). There was no significant correlation between IL-21R gene polymorphisms and the serum level of IL-21. The serum level of total IgE was not significantly correlated with the presence of IL-21R gene polymorphisms. Conclusion: Our data suggest that the genetic susceptibility profile for KD may include IL-21R gene.

Original languageEnglish
Pages (from-to)38-43
Number of pages6
JournalKorean Circulation Journal
Issue number1
Publication statusPublished - 2013 Jan

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine


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