Department of Pediatrics, Yonsei University Wonju College of Medicine, Wonju, Korea.
Korean Circ J. 2013 Jan;43(1):38-43. doi: 10.4070/kcj.2013.43.1.38. Epub 2013 Jan 31.
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).
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).
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.
Our data suggest that the genetic susceptibility profile for KD may include IL-21R gene.
白细胞介素-21 受体（IL-21R）基因多态性与系统性血管炎的发展有关。在本研究中，我们研究了川崎病（KD）患者 IL-21R 基因的多态性。
我们对 100 例 KD 患者和 100 例健康对照者的 IL-21R 基因启动子区（-2500 bp 至+1 bp）进行了基因分型。所有研究对象均为韩国人。我们设计了 5 对引物，进行聚合酶链反应（PCR）和直接测序。我们对 200 个人的整个启动子序列进行了分析，并与 IL-21R 基因的参考序列（NG_012222.1/NC_000016.9）进行了比较。
我们在 IL-21R 基因启动子区发现了 5 个单核苷酸多态性（SNP），其次要等位基因频率（MAF）>0.01。它们分别是-1681 G>T（染色体位置 27411802）、-379 G>A（27413104）、-332 G>C（27413151，rs2214537）、-237 A>T（27413246）和-53 G>A（27413430）。除-237 A>T 外，KD 患者与健康对照组各 SNP 的 MAF 无显著差异。25 例 KD 患者有 1 个以上 SNP，而仅有 7 例健康对照组有 1 个 SNP。KD 患者的 IL-21R 基因多态性明显多于对照组（比值比：3.0，95%置信区间：1.6-5.6，p=0.0005）。IL-21R 基因多态性与 IL-21 血清水平无显著相关性。总 IgE 血清水平与 IL-21R 基因多态性无显著相关性。
我们的数据表明，KD 的遗传易感性可能包括 IL-21R 基因。
