Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2005 Aug;6(5):438-44.
doi: 10.1038/sj.gene.6364225.

Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease

J C Burns  1 , C Shimizu, H Shike, J W Newburger, R P Sundel, A L Baker, T Matsubara, Y Ishikawa, V A Brophy, S Cheng, M A Grow, L L Steiner, N Kono, R M Cantor
Affiliations
Multicenter Study

Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease

J C Burns et al. Genes Immun. 2005 Aug.

Abstract

Several compelling lines of evidence suggest an important influence of genetic variation in susceptibility to Kawasaki disease (KD), an acute vasculitis that causes coronary artery aneurysms in children. We performed a family-based genotyping study to test for association between KD and 58 genes involved in cardiovascular disease and inflammation. By analysis of a cohort of 209 KD trios using the transmission disequilibrium test, we documented the asymmetric transmission of five alleles including the interleukin-4 (IL-4) C(-589)T allele (P=0.03). Asymmetric transmission of the IL-4 C(-589)T was replicated in a second, independent cohort of 60 trios (P=0.05, combined P=0.002). Haplotypes of alleles in IL-4, colony-stimulating factor 2 (CSF2), IL-13, and transcription factor 7 (TCF7), all located in the interleukin gene cluster on 5q31, were also asymmetrically transmitted. The reported associations of KD with atopic dermatitis and allergy, elevated serum IgE levels, eosinophilia, and increased circulating numbers of monocyte/macrophages expressing the low-affinity IgE receptor (FCepsilonR2) may be related to effects of IL-4. Thus, the largest family-based genotyping study of KD patients to date suggests that genetic variation in the IL-4 gene, or regions linked to IL-4, plays an important role in KD pathogenesis and disease susceptibility.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Candidate genes implicated in inflammatory and cardiovascular disease pathways were chosen for genotyping in KD trios.
Figure 2
Figure 2
Schematic of Chromosome 5 showing the interleukin gene cluster and location of genes included in genotyping (italic) and haplotype anaylsis (bold).
See this image and copyright information in PMC

References

    1. Kawasaki T, Kosaki F, Okawa S, Shigematsu I, Yanagawa H. A new infantile acute febrile mucocutaneous lymph node syndrome (MLNS) prevailing in Japan. Pediatrics. 1974;54:271–276. - PubMed
    1. Taubert KA, Rowley AH, Shulman ST. Seven-year national survey of Kawasaki disease and acute rheumatic fever. Pediatr Infect Dis J. 1994;13:704–708. - PubMed
    1. Kato H, Sugimura T, Akagi T, et al. Long-term consequences of Kawasaki disease. A 10- to 21-year follow-up study of 594 patients. Circulation. 1996;94:1379–1385. - PubMed
    1. Kawasaki T. Acute febrile mucocutaneous syndrome with lymphoid involvement with specific desquamation of the fingers and toes in children. Arerugi. 1967;16:178–222. - PubMed
    1. Burns JC. Commentary: translation of Dr Tomisaku Kawasaki’s original report of fifty patients in 1967. ArticlePlus. Pediatr Infect Dis J. 2002;21:993–995. - PubMed

Publication types

MeSH terms