KD is a systemic vascular disease preferentially occurring in infants and children [1
]. It is characterized by the development of coronary artery aneurysms (CAA) which may result in fatal thrombosis and sudden cardiac failure. Clinical manifestations of KD include prolonged fever (1-2 weeks, mean 10-11 days), conjunctival infection, oral lesions, polymorphous skin rashes, extremity changes, and cervical lymphadenopathy, all of which comprise diagnostic criteria [3
]. However, great majority of children failed to manifest typical characteristics. In addition to the diagnostic criteria, there are a broad range of nonspecific clinical features, including irritability, uveitis, aseptic meningitis, cough, vomiting, diarrhea, abdominal pain, gallbladder hydrops, urethritis, arthralgia, arthritis, hypoalbuminemia [4
], liver function impairment, and heart failure [5
]. The peaked incidence at 9 to 11 months of age coincides with fading of maternal immunity, and symptoms partly similar to other infectious disorders suggest that some microorganisms may trigger this disease. Despite great efforts to identify the cause for nearly a half a century, the etiology of KD still remains unknown [7
]. However, the role of genetic susceptibility to KD has long been evident through its striking predilection for children of Japanese ethnicity regardless of their country of residence; compared with Caucasian children, Japanese children have a relative risk of KD that is 10 to 15 times higher [8
]. Siblings of KD children have a relative risk that is 6 to 10 times greater than that of children without a family history, and the parents of Japanese children with KD are twice as likely to have had KD themselves as children than other adults in the general Japanese population [11
Candidate gene studies and genome-wide studies have been successively applied to explore the association between genetic effect and this mysterious disease [15
]. Many suspicious genes related to innate and acquired immune functions or to vascular remodeling have been studied [15
]. Genetic studies of KD were conducted not only to clarify the genetic background but also in the hope of providing clues about its etiology and pathogenesis. However, none of these studies have analyzed the internal association between these significant association genes and explored the possible pathogenic process in KD from overall level.
In this paper, we aim to extract statistically significant genes associated with KD (Up to September 2012, from all English databases) to explore their association and analyze their function in the pathogenesis of KD. This study is a systematic summary of previous research. Further studies on clinical validation will be summarized in our next study.