Article: Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
| Title | Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease | ||||||||||||||||
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| Authors | Khor, CC24 46 Davila, S24 46 Breunis, WB8 27 Lee, YC12 Shimizu, C18 20 Wright, VJ33 Yeung, RSM53 Tan, DEK24 Sim, KS24 Wang, JJ16 49 Wong, TY26 46 49 Pang, J24 46 Mitchell, P49 Cimaz, R21 40 Dahdah, N47 Cheung, YF17 Huang, GY45 Yang, W17 Park, IS32 Lee, JK32 Wu, JY12 Levin, M33 Burns, JC18 20 Burgner, D37 41 Kuijpers, TW8 27 Hibberd, ML24 46 Lau, YL17 Zhang, J17 Ma, XJ45 Liu, F45 Wu, L45 Yoo, JJ3 Hong, SJ3 Kim, KJ3 Kim, JJ32 Park, YM32 Hong, YM22 Sohn, S22 Jang, GY42 Ha, KS42 Nam, HK42 Byeon, JH42 Yun, SW28 Han, MK19 Lee, KY11 Hwang, JY11 Rhim, JW11 Song, MS14 Lee, HD31 Kim, DS23 Lee, JM23 Chang, JS5 Tsai, FJ10 Liang, CD54 Chen, MR15 Chi, H15 Chiu, NC15 Huang, FY15 Chang, LY43 Huang, LM43 Kuo, HC54 Huang, KP54 Lee, ML38 Hwang, B25 Huang, YC54 Lee, PC13 Odam, M32 41 Christiansen, FT41 Witt, C36 Goldwater, P29 39 Curtis, N32 37 Palasanthiran, P6 Ziegler, J6 Nissen, M7 Nourse, C7 Kuipers, IM8 Ottenkamp, JJ8 Geissler, J8 Biezeveld, M8 Tacke, C8 Filippini, L9 Brogan, P34 Klein, N34 Shah, V34 Dillon, M34 Booy, R35 Shingadia, D35 Bose, A35 Mukasa, T35 Tulloh, R52 Michie, C4 Newburger, JW51 Baker, AL51 Rowley, AH30 Shulman, ST30 Mason, W1 Takahashi, M1 Melish, ME50 Tremoulet, AH44 Viswanathan, A2 Rochtchina, E2 Attia, J16 Scott, R48 Holliday, E48 Harrap, S49 | ||||||||||||||||
| Issue Date | 2011 | ||||||||||||||||
| Publisher | Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com | ||||||||||||||||
| Citation | Nature Genetics, 2011, v. 43 n. 12, p. 1241-1246 [How to Cite?] DOI: http://dx.doi.org/10.1038/ng.981 | ||||||||||||||||
| Abstract | Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10 -11, odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10 -9, OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10 -12, OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings. The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease. © 2011 Nature America, Inc. All rights reserved. | ||||||||||||||||
| ISSN | 1061-4036 2011 Impact Factor: 35.532 2011 SCImago Journal Rankings: 8.923 | ||||||||||||||||
| DOI | http://dx.doi.org/10.1038/ng.981 | ||||||||||||||||
| ISI Accession Number ID | WOS:000297931400020
Funding Information: We thank all the individuals with Kawasaki disease and their families for participating in this study. We are grateful to W.-Y. Meah, H.-B. Toh, X. Chen, K.-K. Heng, C.-H. Wong, P.-L. Ng, S.H.Y. Chen and J.-W. Tay for technical assistance, to J. Pancheri, N. Innocentini, D. Donati and S. Fernandez for subject data collection and to D. Scherrer for laboratory assistance. The authors acknowledge the contributions of The Kawasaki Syndrome Support Group (UK) for their assistance in recruitment of the UK collection. This study makes use of data generated by the Wellcome Trust Case Control Consortium 2. A full list of the investigators who contributed to the generation of this data is available from the WTCCC2 website (see URLs). This work was funded in part by internal funding from the Sainte-Justine Hospital research center (awarded to N.D.), by grants from the US National Institutes of Health, National Heart, Lung, Blood Institute (HL69413, awarded to J.C.B.), from the National Heart Foundation of Australia (to D.B.) and by the Agency for Science, Technology, and Research, Singapore. The Korean Kawasaki Disease Genetics Consortium was supported by a grant from the Ministry of Health & Welfare of the Republic of Korea (A010384). The Hong Kong Kawasaki Disease Genetics Consortium was supported by the Shun Tak District Min Yuen Tong. The Australian research activity was partly supported by the Victorian Government's Operational Infrastructure Support Program. | ||||||||||||||||
| References | References in Scopus |
| dc.contributor.author | Khor, CC | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| dc.contributor.author | Davila, S | ||||||||||||||||
| dc.contributor.author | Breunis, WB | ||||||||||||||||
| dc.contributor.author | Lee, YC | ||||||||||||||||
| dc.contributor.author | Shimizu, C | ||||||||||||||||
| dc.contributor.author | Wright, VJ | ||||||||||||||||
| dc.contributor.author | Yeung, RSM | ||||||||||||||||
| dc.contributor.author | Tan, DEK | ||||||||||||||||
| dc.contributor.author | Sim, KS | ||||||||||||||||
| dc.contributor.author | Wang, JJ | ||||||||||||||||
| dc.contributor.author | Wong, TY | ||||||||||||||||
| dc.contributor.author | Pang, J | ||||||||||||||||
| dc.contributor.author | Mitchell, P | ||||||||||||||||
| dc.contributor.author | Cimaz, R | ||||||||||||||||
| dc.contributor.author | Dahdah, N | ||||||||||||||||
| dc.contributor.author | Cheung, YF | ||||||||||||||||
| dc.contributor.author | Huang, GY | ||||||||||||||||
| dc.contributor.author | Yang, W | ||||||||||||||||
| dc.contributor.author | Park, IS | ||||||||||||||||
| dc.contributor.author | Lee, JK | ||||||||||||||||
| dc.contributor.author | Wu, JY | ||||||||||||||||
| dc.contributor.author | Levin, M | ||||||||||||||||
| dc.contributor.author | Burns, JC | ||||||||||||||||
| dc.contributor.author | Burgner, D | ||||||||||||||||
| dc.contributor.author | Kuijpers, TW | ||||||||||||||||
| dc.contributor.author | Hibberd, ML | ||||||||||||||||
| dc.contributor.author | Lau, YL | ||||||||||||||||
| dc.contributor.author | Zhang, J | ||||||||||||||||
| dc.contributor.author | Ma, XJ | ||||||||||||||||
| dc.contributor.author | Liu, F | ||||||||||||||||
| dc.contributor.author | Wu, L | ||||||||||||||||
| dc.contributor.author | Yoo, JJ | ||||||||||||||||
| dc.contributor.author | Hong, SJ | ||||||||||||||||
| dc.contributor.author | Kim, KJ | ||||||||||||||||
| dc.contributor.author | Kim, JJ | ||||||||||||||||
| dc.contributor.author | Park, YM | ||||||||||||||||
| dc.contributor.author | Hong, YM | ||||||||||||||||
| dc.contributor.author | Sohn, S | ||||||||||||||||
| dc.contributor.author | Jang, GY | ||||||||||||||||
| dc.contributor.author | Ha, KS | ||||||||||||||||
| dc.contributor.author | Nam, HK | ||||||||||||||||
| dc.contributor.author | Byeon, JH | ||||||||||||||||
| dc.contributor.author | Yun, SW | ||||||||||||||||
| dc.contributor.author | Han, MK | ||||||||||||||||
| dc.contributor.author | Lee, KY | ||||||||||||||||
| dc.contributor.author | Hwang, JY | ||||||||||||||||
| dc.contributor.author | Rhim, JW | ||||||||||||||||
| dc.contributor.author | Song, MS | ||||||||||||||||
| dc.contributor.author | Lee, HD | ||||||||||||||||
| dc.contributor.author | Kim, DS | ||||||||||||||||
| dc.contributor.author | Lee, JM | ||||||||||||||||
| dc.contributor.author | Chang, JS | ||||||||||||||||
| dc.contributor.author | Tsai, FJ | ||||||||||||||||
| dc.contributor.author | Liang, CD | ||||||||||||||||
| dc.contributor.author | Chen, MR | ||||||||||||||||
| dc.contributor.author | Chi, H | ||||||||||||||||
| dc.contributor.author | Chiu, NC | ||||||||||||||||
| dc.contributor.author | Huang, FY | ||||||||||||||||
| dc.contributor.author | Chang, LY | ||||||||||||||||
| dc.contributor.author | Huang, LM | ||||||||||||||||
| dc.contributor.author | Kuo, HC | ||||||||||||||||
| dc.contributor.author | Huang, KP | ||||||||||||||||
| dc.contributor.author | Lee, ML | ||||||||||||||||
| dc.contributor.author | Hwang, B | ||||||||||||||||
| dc.contributor.author | Huang, YC | ||||||||||||||||
| dc.contributor.author | Lee, PC | ||||||||||||||||
| dc.contributor.author | Odam, M | ||||||||||||||||
| dc.contributor.author | Christiansen, FT | ||||||||||||||||
| dc.contributor.author | Witt, C | ||||||||||||||||
| dc.contributor.author | Goldwater, P | ||||||||||||||||
| dc.contributor.author | Curtis, N | ||||||||||||||||
| dc.contributor.author | Palasanthiran, P | ||||||||||||||||
| dc.contributor.author | Ziegler, J | ||||||||||||||||
| dc.contributor.author | Nissen, M | ||||||||||||||||
| dc.contributor.author | Nourse, C | ||||||||||||||||
| dc.contributor.author | Kuipers, IM | ||||||||||||||||
| dc.contributor.author | Ottenkamp, JJ | ||||||||||||||||
| dc.contributor.author | Geissler, J | ||||||||||||||||
| dc.contributor.author | Biezeveld, M | ||||||||||||||||
| dc.contributor.author | Tacke, C | ||||||||||||||||
| dc.contributor.author | Filippini, L | ||||||||||||||||
| dc.contributor.author | Brogan, P | ||||||||||||||||
| dc.contributor.author | Klein, N | ||||||||||||||||
| dc.contributor.author | Shah, V | ||||||||||||||||
| dc.contributor.author | Dillon, M | ||||||||||||||||
| dc.contributor.author | Booy, R | ||||||||||||||||
| dc.contributor.author | Shingadia, D | ||||||||||||||||
| dc.contributor.author | Bose, A | ||||||||||||||||
| dc.contributor.author | Mukasa, T | ||||||||||||||||
| dc.contributor.author | Tulloh, R | ||||||||||||||||
| dc.contributor.author | Michie, C | ||||||||||||||||
| dc.contributor.author | Newburger, JW | ||||||||||||||||
| dc.contributor.author | Baker, AL | ||||||||||||||||
| dc.contributor.author | Rowley, AH | ||||||||||||||||
| dc.contributor.author | Shulman, ST | ||||||||||||||||
| dc.contributor.author | Mason, W | ||||||||||||||||
| dc.contributor.author | Takahashi, M | ||||||||||||||||
| dc.contributor.author | Melish, ME | ||||||||||||||||
| dc.contributor.author | Tremoulet, AH | ||||||||||||||||
| dc.contributor.author | Viswanathan, A | ||||||||||||||||
| dc.contributor.author | Rochtchina, E | ||||||||||||||||
| dc.contributor.author | Attia, J | ||||||||||||||||
| dc.contributor.author | Scott, R | ||||||||||||||||
| dc.contributor.author | Holliday, E | ||||||||||||||||
| dc.contributor.author | Harrap, S | ||||||||||||||||
| dc.date.accessioned | 2012-07-16T09:48:39Z | ||||||||||||||||
| dc.date.available | 2012-07-16T09:48:39Z | ||||||||||||||||
| dc.date.issued | 2011 | ||||||||||||||||
| dc.description.abstract | Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10 -11, odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10 -9, OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10 -12, OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings. The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease. © 2011 Nature America, Inc. All rights reserved. | ||||||||||||||||
| dc.description.nature | Link_to_subscribed_fulltext | ||||||||||||||||
| dc.identifier.citation | Nature Genetics, 2011, v. 43 n. 12, p. 1241-1246 [How to Cite?] DOI: http://dx.doi.org/10.1038/ng.981 | ||||||||||||||||
| dc.identifier.citeulike | 10091441 | ||||||||||||||||
| dc.identifier.doi | http://dx.doi.org/10.1038/ng.981 | ||||||||||||||||
| dc.identifier.epage | 1246 | ||||||||||||||||
| dc.identifier.hkuros | 200816 | ||||||||||||||||
| dc.identifier.isi | WOS:000297931400020
Funding Information: We thank all the individuals with Kawasaki disease and their families for participating in this study. We are grateful to W.-Y. Meah, H.-B. Toh, X. Chen, K.-K. Heng, C.-H. Wong, P.-L. Ng, S.H.Y. Chen and J.-W. Tay for technical assistance, to J. Pancheri, N. Innocentini, D. Donati and S. Fernandez for subject data collection and to D. Scherrer for laboratory assistance. The authors acknowledge the contributions of The Kawasaki Syndrome Support Group (UK) for their assistance in recruitment of the UK collection. This study makes use of data generated by the Wellcome Trust Case Control Consortium 2. A full list of the investigators who contributed to the generation of this data is available from the WTCCC2 website (see URLs). This work was funded in part by internal funding from the Sainte-Justine Hospital research center (awarded to N.D.), by grants from the US National Institutes of Health, National Heart, Lung, Blood Institute (HL69413, awarded to J.C.B.), from the National Heart Foundation of Australia (to D.B.) and by the Agency for Science, Technology, and Research, Singapore. The Korean Kawasaki Disease Genetics Consortium was supported by a grant from the Ministry of Health & Welfare of the Republic of Korea (A010384). The Hong Kong Kawasaki Disease Genetics Consortium was supported by the Shun Tak District Min Yuen Tong. The Australian research activity was partly supported by the Victorian Government's Operational Infrastructure Support Program. | ||||||||||||||||
| dc.identifier.issn | 1061-4036 2011 Impact Factor: 35.532 2011 SCImago Journal Rankings: 8.923 | ||||||||||||||||
| dc.identifier.issue | 12 | ||||||||||||||||
| dc.identifier.pmid | 22081228 | ||||||||||||||||
| dc.identifier.scopus | eid_2-s2.0-82255186670 | ||||||||||||||||
| dc.identifier.spage | 1241 | ||||||||||||||||
| dc.identifier.uri | http://hdl.handle.net/10722/152796 | ||||||||||||||||
| dc.identifier.volume | 43 | ||||||||||||||||
| dc.language | eng | ||||||||||||||||
| dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com | ||||||||||||||||
| dc.publisher.place | United States | ||||||||||||||||
| dc.relation.ispartof | Nature Genetics | ||||||||||||||||
| dc.relation.references | References in Scopus | ||||||||||||||||
| dc.title | Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease | ||||||||||||||||
| dc.type | Article |
- Children's Hospital Los Angeles
- UCL
- Asan Medical Center
- Ealing Hospital
- Seoul Clinical Laboratories
- Sydney Children's Hospital
- University of Queensland
- Academic Medical Centre, University of Amsterdam
- Juliana Children's Hospital
- China Medical University and Hospital
- Daejeon St. Mary's Hospital
- Academia Sinica Taiwan
- Veterans General Hospital-Taipei
- Inje University Paik Hospital
- Mackay Memorial Hospital Taiwan
- University of Sydney
- The University of Hong Kong
- Rady Children's Hospital
- Ulsan University
- University of California, San Diego, School of Medicine
- null
- Ewha Women's University, College of Medicine
- Yonsei University College of Medicine
- Genome Institute of Singapore
- Taipei City Hospital Taiwan
- Singapore National Eye Centre
- University of Amsterdam
- Chung-Ang University, College of Medicine
- University of Adelaide
- Northwestern University Feinberg School of Medicine
- Pusan National University, College of Medicine
- University of Ulsan, College of Medicine
- Imperial College London
- UCL Institute of Child Health
- null
- Royal Perth Hospital
- Royal Children's Hospital, Melbourne
- Changhua Christian Hospital Taiwan
- Women's and Children's Hospital Adelaide
- Università degli Studi di Firenze
- University of Western Australia
- Korea University
- National Taiwan University Hospital
- University of California, San Diego
- Fudan University
- National University of Singapore
- null
- Hunter Medical Research Institute, Australia
- University of Melbourne
- Kapliolani Children's Hospital
- Children's Hospital Boston
- University of Bristol
- Hospital for Sick Children, Toronto
- Chang Gung Memorial Hospital

