Korean Circ J.  2013 Jan;43(1):38-43. 10.4070/kcj.2013.43.1.38.

Interleukin-21 Receptor Gene Polymorphisms in Kawasaki Disease

• Kim MH
• Bae YJ
• Lee HK
• Lee YR
• Lee DH
• Bae K
• Koh SB
• Namgoong M
• Cha BH
• Lee HY

• KMID: 1722999
• DOI: http://doi.org/10.4070/kcj.2013.43.1.38

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.

Keyword

Mucocutaneous lymph node syndrome; Receptor, Interleukin-21; Polymorphism, genetic

MeSH Terms

Gene Frequency
Genetic Predisposition to Disease
Humans
Immunoglobulin E
Interleukins
Mucocutaneous Lymph Node Syndrome
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Receptors, Interleukin-21
Systemic Vasculitis
Immunoglobulin E
Interleukins
Receptors, Interleukin-21

Figure

• 

  Fig. 1 The IL-21R gene site in chromosome 16 (27,413,483...27,463,363). IL-21R: interleukin 21 receptor.

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  Fig. 2 Difference of serum levels of IL-21 according to the presence of single nucleotide polymorphisms of IL-21R gene. The mean serum level of patients who have polymorphisms was 612±480 pg/mL and that of patients who have no polymorphism was 414±290 pg/mL, there was no significant difference between two groups (p=0.18). NS: not significant, IL-21: interleukin-21, IL-21R: interleukin-21 receptor.

• 

  Fig. 3 Serum levels of total IgE according to IL-21R gene polymorphisms in patients with KD. Our data showed no significant difference of serum total IgE between the patients who have IL-21R gene polymorphisms and those who have not (median value=30.1 pg/mL vs. 58.6 pg/mL, p=0.17). NS: not significant, IgE: immunoglobulin E, IL-21R: interleukin-21 receptor, KD: Kawasaki disease.

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