Details

Autor(en) / Beteiligte

• Khor, Chiea Chuen
• Davila, Sonia
• Breunis, Willemijn B
• Lee, Yi-Ching
• Shimizu, Chisato
• Wright, Victoria J
• Yeung, Rae S M
• Tan, Dennis E K
• Sim, Kar Seng
• Wang, Jie Jin
• Wong, Tien Yin
• Pang, Junxiong
• Mitchell, Paul
• Cimaz, Rolando
• Dahdah, Nagib
• Cheung, Yiu-Fai
• Huang, Guo-Ying
• Yang, Wanling
• Park, In-Sook
• Lee, Jong-Keuk
• Wu, Jer-Yuarn
• Levin, Michael
• Burns, Jane C
• Burgner, David
• Kuijpers, Taco W
• Hibberd, Martin L

Titel

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

Ist Teil von

• Nature genetics, 2011-12, Vol.43 (12), p.1241-1246

Ort / Verlag

New York: Nature Publishing Group US

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• The Hong Kong–Shanghai, Korean, Taiwan, US and International Kawasaki Disease Genetics Consortia report a genome-wide association study in Kawasaki disease. They identify a novel locus in the FCGR2A gene that confers elevated risk of disease. 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 1 . 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.