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A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease

Title
A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease
Authors
Kim J.-J.Hong Y.M.Sohn S.Jang G.Y.Ha K.-S.Yun S.W.Han M.K.Lee K.-Y.Song M.S.Lee H.D.Kim D.S.Lee J.-E.Shin E.-S.Jang J.-H.Lee Y.-S.Kim S.-Y.Lee J.-Y.Han B.-G.Wu J.-Y.Kim K.-J.Park Y.-M.Seo E.-J.Park I.-S.Lee J.-K.
Ewha Authors
홍영미손세정
SCOPUS Author ID
홍영미scopus; 손세정scopus
Issue Date
2011
Journal Title
Human Genetics
ISSN
0340-6717JCR Link
Citation
vol. 129, no. 5, pp. 487 - 495
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Kawasaki disease (KD) is an acute self-limited vasculitis of infants and children that manifests as fever and signs of mucocutaneous inflammation. Coronary artery aneurysms develop in approximately 15-25% of untreated children. Although the etiology of KD is largely unknown, epidemiologic data suggest the importance of genetic factors in the susceptibility to KD. In order to identify genetic variants that influence KD susceptibility, we performed a genome-wide association study (GWAS) using Affymetrix SNP array 6.0 in 186 Korean KD patients and 600 healthy controls; 18 and 26 genomic regions with one or more sequence variants were associated with KD and KD with coronary artery lesions (CALs), respectively (p < 1 × 10-5). Of these, one locus on chromosome 1p31 (rs527409) was replicated in 266 children with KD and 600 normal controls (odds ratio [OR] = 2.90, 95% confidence interval [CI] = 1.85-4.54, P combined = 1.46 × 10-6); and a PELI1 locus on chromosome 2p13.3 (rs7604693) was replicated in 86 KD patients with CALs and 600 controls (OR = 2.70, 95% CI = 1.77-4.12, P combined = 2.00 × 10-6). These results implicate a locus in the 1p31 region and the PELI1 gene locus in the 2p13.3 region as susceptibility loci for KD and CALs, respectively. © 2011 Springer-Verlag.
DOI
10.1007/s00439-010-0937-x
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의학전문대학원 > 의학과 > Journal papers
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