caa a22 4500 44586186X CHVBK 20180317145446.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s00439-010-0937-x doi (NATIONALLICENCE)springer-10.1007/s00439-010-0937-x A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease [Elektronische Daten] [Jae-Jung Kim, Young Hong, Saejung Sohn, Gi Jang, Kee-Soo Ha, Sin Yun, Myung Han, Kyung-Yil Lee, Min Song, Hyoung Lee, Dong Kim, Jong-Eun Lee, Eun-Soon Shin, Ji-Hyun Jang, Yeon-Su Lee, Sook-Young Kim, Jong-Young Lee, Bok-Ghee Han, Jer-Yuarn Wu, Kwi-Joo Kim, Young-Mi Park, Eul-Joo Seo, In-Sook Park, Jong-Keuk Lee] 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. Springer-Verlag, 2011 Kim Jae-Jung Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut Hong Young Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea aut Sohn Saejung Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea aut Jang Gi Department of Pediatrics, Korea University Hospital, Seoul, Korea aut Ha Kee-Soo Department of Pediatrics, Korea University Hospital, Seoul, Korea aut Yun Sin Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea aut Han Myung Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, Gangneung, Korea aut Lee Kyung-Yil Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea aut Song Min Department of Pediatrics, Inje University Paik Hospital, Busan, Korea aut Lee Hyoung Department of Pediatrics, Pusan National University Hospital, Busan, Korea aut Kim Dong Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Korea aut Lee Jong-Eun DNA Link, Seoul, Korea aut Shin Eun-Soon DNA Link, Seoul, Korea aut Jang Ji-Hyun DNA Link, Seoul, Korea aut Lee Yeon-Su National Cancer Center, Goyang, Korea aut Kim Sook-Young National Cancer Center, Goyang, Korea aut Lee Jong-Young Center for Genome Science, National Institute of Health, Seoul, Korea aut Han Bok-Ghee Center for Genome Science, National Institute of Health, Seoul, Korea aut Wu Jer-Yuarn National Genotyping Center, Academia Sinica, Taiwan aut Kim Kwi-Joo Genome Research Center, Asan Medical Center, Seoul, Korea aut Park Young-Mi Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut Seo Eul-Joo Department of Laboratory Medicine, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea aut Park In-Sook Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut Lee Jong-Keuk Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut Human Genetics Springer-Verlag 129/5(2011-05-01), 487-495 0340-6717 129:5<487 2011 129 439 https://doi.org/10.1007/s00439-010-0937-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0937-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kim Jae-Jung Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut NATIONALLICENCE 700 1- Hong Young Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Sohn Saejung Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Jang Gi Department of Pediatrics, Korea University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Ha Kee-Soo Department of Pediatrics, Korea University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Yun Sin Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Han Myung Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, Gangneung, Korea aut NATIONALLICENCE 700 1- Lee Kyung-Yil Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea aut NATIONALLICENCE 700 1- Song Min Department of Pediatrics, Inje University Paik Hospital, Busan, Korea aut NATIONALLICENCE 700 1- Lee Hyoung Department of Pediatrics, Pusan National University Hospital, Busan, Korea aut NATIONALLICENCE 700 1- Kim Dong Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Korea aut NATIONALLICENCE 700 1- Lee Jong-Eun DNA Link, Seoul, Korea aut NATIONALLICENCE 700 1- Shin Eun-Soon DNA Link, Seoul, Korea aut NATIONALLICENCE 700 1- Jang Ji-Hyun DNA Link, Seoul, Korea aut NATIONALLICENCE 700 1- Lee Yeon-Su National Cancer Center, Goyang, Korea aut NATIONALLICENCE 700 1- Kim Sook-Young National Cancer Center, Goyang, Korea aut NATIONALLICENCE 700 1- Lee Jong-Young Center for Genome Science, National Institute of Health, Seoul, Korea aut NATIONALLICENCE 700 1- Han Bok-Ghee Center for Genome Science, National Institute of Health, Seoul, Korea aut NATIONALLICENCE 700 1- Wu Jer-Yuarn National Genotyping Center, Academia Sinica, Taiwan aut NATIONALLICENCE 700 1- Kim Kwi-Joo Genome Research Center, Asan Medical Center, Seoul, Korea aut NATIONALLICENCE 700 1- Park Young-Mi Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut NATIONALLICENCE 700 1- Seo Eul-Joo Department of Laboratory Medicine, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea aut NATIONALLICENCE 700 1- Park In-Sook Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut NATIONALLICENCE 700 1- Lee Jong-Keuk Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, 138-736, Songpa-Gu, Seoul, Korea aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/5(2011-05-01), 487-495 0340-6717 129:5<487 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer