Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
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Interleukin-21 Receptor Gene Polymorphisms in Kawasaki Disease

  • Kim, Mi Hyun (Department of Pediatrics, Yonsei University Wonju College of Medicine) ;
  • Bae, Yon Jung (Department of Pediatrics, Yonsei University Wonju College of Medicine) ;
  • Lee, Hyun Keun (Department of Pediatrics, Yonsei University Wonju College of Medicine) ;
  • Lee, Yeong Ro (Division of Biological Science and Technology & Yonsei-Frauhofer Medical Device Lab, College of Science and Technology, Yonsei University) ;
  • Lee, Dong Hoon (Division of Biological Science and Technology & Yonsei-Frauhofer Medical Device Lab, College of Science and Technology, Yonsei University) ;
  • Bae, Kiho (Division of Biological Science and Technology & Yonsei-Frauhofer Medical Device Lab, College of Science and Technology, Yonsei University) ;
  • Koh, Sang Baek (Department of Preventive Medicine, Yonsei University Wonju College of Medicine) ;
  • Namgoong, Mee Kyung (Department of Pediatrics, Yonsei University Wonju College of Medicine) ;
  • Cha, Byung Ho (Department of Pediatrics, Yonsei University Wonju College of Medicine) ;
  • Lee, Hae Yong (Department of Pediatrics, Yonsei University Wonju College of Medicine)
  • Published : 2013.01.30
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Abstract

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.

Keywords

References

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