川崎病とGWAS: BLKとCD40 nature geneticsより

川崎病とGWASの報告が日本と台湾から出た。BLKとCD40（あるいはその近傍）の相関が高そうである。いずれも免疫・炎症がらみの遺伝子である。小生は川崎病が病原微生物による疾患である可能性がまだ残っていると思うのだが・・・・・

A genome-wide association study identifies three new risk loci for Kawasaki disease

Yoshihiro Onouchi, Kouichi Ozaki, Jane C Burns, Chisato Shimizu, Yusuke Nakamura, Toshihiro Tanaka, Japan Kawasaki Disease Genome Consortium & US Kawasaki Disease Genetics Consortium

Nature Genetics(2012)
Received26 August 2011
Accepted24 February 2012
Published online25 March 2012

We performed a genome-wide association study (GWAS) of Kawasaki disease in Japanese subjects using data from 428 individuals with Kawasaki disease (cases) and 3,379 controls genotyped at 473,803 SNPs. We validated the association results in two independent replication panels totaling 754 cases and 947 controls. We observed significant associations in the FAM167A-BLK region at 8p22-23 (rs2254546, P = 8.2 × 10−21), in the human leukocyte antigen (HLA) region at 6p21.3 (rs2857151, P = 4.6 × 10−11) and in the CD40 region at 20q13 (rs4813003, P = 4.8 × 10−8). We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 × 10−6) identified in a recently reported GWAS of Kawasaki disease. Our findings provide new insights into the pathogenesis and pathophysiology of Kawasaki disease.


Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis

Yi-Ching Lee, Ho-Chang Kuo, Jeng-Sheng Chang, & Jer-Yuarn Wu

Nature Genetics(2012)
Received30 August 2011
Accepted29 February 2012
Published online25 March 2012

To find new candidate loci predisposing individuals to Kawasaki disease, an acute vasculitis that affects children, we conducted a genome-wide association study in 622 individuals with Kawasaki disease (cases) and 1,107 controls in a Han Chinese population residing in Taiwan, with replication in an independent Han Chinese sample of 261 cases and 550 controls. We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10−8). Our findings may lead to a better understanding of the role of immune activation and inflammation in Kawasaki disease pathogenesis.