title: A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.
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.
authors.affiliation: Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, Songpa-Gu, Seoul, Korea.
authors.forename: Jae-Jung
authors.initials: JJ
authors.lastname: Kim
authors.forename: Young Mi
authors.initials: YM
authors.lastname: Hong
authors.forename: Saejung
authors.initials: S
authors.lastname: Sohn
authors.forename: Gi Young
authors.initials: GY
authors.lastname: Jang
authors.forename: Kee-Soo
authors.initials: KS
authors.lastname: Ha
authors.forename: Sin Weon
authors.initials: SW
authors.lastname: Yun
authors.forename: Myung Ki
authors.initials: MK
authors.lastname: Han
authors.forename: Kyung-Yil
authors.initials: KY
authors.lastname: Lee
authors.forename: Min Seob
authors.initials: MS
authors.lastname: Song
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Lee
authors.forename: Dong Soo
authors.initials: DS
authors.lastname: Kim
authors.forename: Jong-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Eun-Soon
authors.initials: ES
authors.lastname: Shin
authors.forename: Ji-Hyun
authors.initials: JH
authors.lastname: Jang
authors.forename: Yeon-Su
authors.initials: YS
authors.lastname: Lee
authors.forename: Sook-Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
authors.forename: Kwi-Joo
authors.initials: KJ
authors.lastname: Kim
authors.forename: Young-Mi
authors.initials: YM
authors.lastname: Park
authors.forename: Eul-Joo
authors.initials: EJ
authors.lastname: Seo
authors.forename: In-Sook
authors.initials: IS
authors.lastname: Park
authors.forename: Jong-Keuk
authors.initials: JK
authors.lastname: Lee
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003323:Coronary Aneurysm / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide