Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions.
Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions.
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DOI：
10.1002/mgg3.79
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发表时间：
2014-07
影响因子：
2
通讯作者：
Weis, John H
中科院分区：
文献类型：
--
作者：
Bowles, Neil E;Arrington, Cammon B;Hirono, Keiichi;Nakamura, Tsuneyuki;Ngo, Long;Wee, Yin Shen;Ichida, Fukiko;Weis, John H
川崎病(KD)是最常见的系统性脉管炎综合征，主要影响中小型动脉，尤其是冠状动脉(Kato等人。1996年)。KD于1967年首次被描述，现在被确定为发达国家儿童获得性心脏病的主要原因(Wang等人。2005)。在日裔儿童中，KD的年发病率约为每10万名5岁以下儿童中有218人(Nakamura等人。2012年)，相比之下，美国每10万人中约有20人(Holman等人)。2010A)。及时使用大剂量静脉注射丙种球蛋白(IVIG)可减少发热持续时间和冠状动脉病变(CAL)的发生率。然而，即使在IVIG治疗之后，也有5-7%的患者发展为动脉瘤(Ogata等人。人们普遍认为KD是由一种或多种在遗传易感个体中引起异常免疫反应的感染性病原体引起的(Burgner和Harnden 2005)。然而，自从对KD的最初描述以来，确定一个明确的感染源一直是难以捉摸的。有几条证据支持感染假说，包括自限性疾病的急性发作、较年轻时的易感性增加，以及具有季节性优势的地理聚集性暴发(冬末和初春)(Wang等人)。2005)。在日本以及居住在美国的日本后裔中，KD的发病率高于任何其他民族(Holman等人。(2010b)，这表明遗传易感性在疾病易感性中也起着重要作用。此外，有证据表明，受影响患者的父母和兄弟姐妹的KD发病率高于普通人群(Onouchi 2012)。例如，据报道，受影响儿童的兄弟姐妹患KD的风险是普通人群儿童的10-30倍(Fujita等人)。(1989年)。此外，被诊断为KD的人的后代更有可能发展为KD(Uehara等人。2004年)。最近，有大量的遗传连锁和全基因组关联研究报告了与风险和结果相关的遗传位点，参见Onouchi(2012)的全面综述。其中
Kawasaki disease (KD) is the most common systemic vasculitis syndrome, primarily affecting small-to mediumsized arteries, more particularly the coronary arteries (Kato et al. 1996). KD was first described in 1967 and is now identified as the leading cause of acquired heart disease among children in developed countries (Wang et al. 2005). The annual incidence of KD in children of Japanese descent is about 218 per 100,000 children less than 5 years of age (Nakamura et al. 2012) as compared to about 20 per 100,000 in the United States (Holman et al. 2010a). Timely treatment with high-dose intravenous c globulin (IVIG) reduces the duration of fever and incidence of coronary artery lesions (CAL). However, even after IVIG treatment~ 5–7% of patients develop aneurysms (Ogata et al. 2013).It is widely believed that KD is induced by one or more infectious agents that evoke an abnormal immunological response in genetically susceptible individuals (Burgner and Harnden 2005). However, since the initial description of KD, identification of a definitive infectious agent has been elusive. Several lines of evidence support the infection hypothesis including the acute onset of a self-limited illness, increased susceptibility at younger age, and geographic clustering of outbreaks with a seasonal predominance (later winter and early spring)(Wang et al. 2005). There is a higher incidence of KD in Japan as well as among Japanese descendants residing in the United States than in any other ethnic populations (Holman et al. 2010b), suggesting that a genetic predisposition also plays an important role in susceptibility to the disease. In addition, there is evidence that the incidence of KD in parents and siblings of an affected patient is higher than in the general population (Onouchi 2012). For example, it has been reported that siblings of affected children are at 10-to 30-fold greater risk of developing KD than children in the general population (Fujita et al. 1989). In addition, offspring of individuals diagnosed with KD are more likely to develop KD (Uehara et al. 2004). More recently there have been a large number of genetic linkage and genome-wide association studies (GWAS) that have reported genetic loci associated with risk and outcomes, see Onouchi (2012) for a comprehensive review. Among