日本人群甘露糖结合凝集素基因多态性与川崎病的关联。
Association of mannose-binding lectin gene polymorphisms with Kawasaki disease in the Japanese.
机构信息
Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
出版信息
Int J Rheum Dis. 2009 Dec;12(4):307-10. doi: 10.1111/j.1756-185X.2009.01428.x.
OBJECTIVE
Kawasaki disease (KD) is a systemic vasculitis in childhood; its etiology is unknown. The possibility that KD is an infectious disease has been discussed and investigated for decades, in light of the implication that infections are involved in the pathogenesis of KD. Young children rely on their innate immune system for protection against virus and micro-organisms. Human mannose binding lectin (MBL) is a C-type serum lectin synthesized by the liver as an acute phase protein and it plays an important role in the innate immune system. Here, we investigate the relationship between the MBL gene polymorphisms and the occurrence of KD in the Japanese population.
METHOD
The frequencies of the genotypes, defined as mutations in codons 52, 54 and 57, and the functional promoter variants of the MBL were determined in 45 patients with KD.
RESULTS
The MBL codon-54 polymorphism frequency of heterozygote (GGC/GAC) and promoter variants were significantly higher in the KD group than that in the control group (P < 0.05). Neither group showed codon 52 nor 57 polymorphisms.
CONCLUSION
It is possible that mutations of the MBL gene might be related to the trigger of the pathogenesis of Kawasaki disease.
目的
川崎病（KD）是一种儿童全身性血管炎；其病因不明。鉴于感染可能与 KD 的发病机制有关，几十年来一直讨论并研究了 KD 是否为传染病的可能性。幼儿依靠其先天免疫系统来预防病毒和微生物感染。人甘露糖结合凝集素（MBL）是肝脏合成的一种 C 型血清凝集素，作为急性期蛋白，它在先天免疫系统中发挥重要作用。在这里，我们研究了 MBL 基因多态性与日本人群 KD 发病之间的关系。
方法
在 45 例 KD 患者中，确定了 MBL 基因的基因型频率，即密码子 52、54 和 57 的突变，以及 MBL 的功能启动子变异。
结果
KD 组 MBL 密码子 54 杂合子（GGC/GAC）和启动子变异的频率明显高于对照组（P<0.05）。两组均未出现密码子 52 或 57 突变。
结论
MBL 基因突变可能与川崎病发病机制的触发有关。
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