郭和昌醫師參與之中研院與全世界多國川崎症(Kawasaki disease)基因研究登上世界最頂尖之自然基因雜誌(Nature Genetics, SCI IF: 36.377)

這是台灣川崎症研究 首度登上基因學全世界排名第一名的最頂尖雜誌 “自然基因學” Nature Genetics 感謝中研院陳垣崇院士, 國家基因鑑定中心主任 鄔哲源教授的領導 及中國醫藥學大學蔡輔仁研發長的發起 以及全台多家醫學中心的鼎力合作 讓台灣于川崎症的更進一份心力! 也為川崎症病童的照護更加努力! 研究科學家總是希望可以找到一個共同的致病基因 結果確如同川崎症本身一樣--充滿許多的謎題 但由各方的結果看來謎題應該呼之欲出! 免疫的T與B細胞相關基因極有可能是解開深鎖四十年謎題之鑰! Nat Genet. 2011 Nov 13. doi: 10.1038/ng.981. [Epub ahead of print] Genome-wide association study identifies FCGR 2A as a susceptibility locus for Kawasaki disease. Khor CC, Davila S, Breunis WB, Lee YC, Shimizu C, Wright VJ, Yeung RS, Tan DE, Sim KS, Wang JJ, Wong TY, Pang J, Mitchell P, Cimaz R, Dahdah N, Cheung YF, Huang GY, Yang W, Park IS, Lee JK, Wu JY, Levin M, Burns JC, Burgner D, Kuijpers TW, Hibberd ML; Hong Kong–Shanghai Kawasaki Disease Genetics Consortium, Lau YL, Zhang J, Ma XJ, Liu F, Wu L; Korean Kawasaki Disease Genetics Consortium, Yoo JJ, Hong SJ, Kim KJ, Kim JJ, Park YM, Hong YM, Sohn S, Jang GY, Ha KS, Nam HK, Byeon JH, Yun SW, Han MK, Lee KY, Hwang JY, Rhim JW, Song MS, Lee HD, Kim DS, Lee JM; Taiwan Kawasaki Disease Genetics Consortium, Chang JS, Tsai FJ, Liang CD, Chen MR, Chi H, Chiu NC, Huang FY, Chang LY, Huang LM, Kuo HC (郭和昌), Huang KP, Lee ML, Hwang B, Huang YC, Lee PC; International Kawasaki Disease Genetics Consortium, Odam M, Christiansen FT, Witt C, Goldwater P, Curtis N, Palasanthiran P, Ziegler J, Nissen M, Nourse C, Kuipers IM, Ottenkamp JJ, Geissler J, Biezeveld M, Tacke C, Filippini L, Brogan P, Klein N, Shah V, Dillon M, Booy R, Shingadia D, Bose A, Mukasa T, Tulloh R, Michie C; US Kawasaki Disease Genetics Consortium, Newburger JW, Baker AL, Rowley AH, Shulman ST, Mason W, Takahashi M, Melish ME, Tremoulet AH; Blue Mountains Eye Study, Viswanathan A, Rochtchina E, Attia J, Scott R, Holliday E, Harrap S. 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 FCGR 2A (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 rs 28493229 in ITPKC), which confirms previous findings. The involvement of the FCGR 2A 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. PMID: 22081228 [PubMed - as supplied by publisher]