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

作者：Onouchi Yoshihiro^*; Ozaki Kouichi; Burns Jane C; Shimizu Chisato; Terai Masaru; Hamada Hiromichi; Honda Takafumi; Suzuki Hiroyuki; Suenaga Tomohiro; Takeuchi Takashi; Yoshikawa Norishige; Suzuki Yoichi; Yasukawa Kumi; Ebata Ryota; Higashi Kouji; Saji Tsutomu; Kemmotsu Yasushi; Takatsuki Shinichi; Ouchi Kazunobu; Kishi Fumio; Yoshikawa Tetsushi; Nagai Toshiro; Hamamoto Kunihiro; Sato Yoshitake; Honda Akihito; Kobayashi Hironobu; Sato Junichi; Shibuta Shoichi

来源：Nature Genetics, 2012, 44(5): 517-+.

DOI：10.1038/ng.2220

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 x 10(-21)), in the human leukocyte antigen (HLA) region at 6p21.3 (rs2857151, P = 4.6 x 10(-11)) and in the CD40 region at 20q13 (rs4813003, P = 4.8 x 10(-8)). We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 x 10(-6)) identified in a recently reported GWAS of Kawasaki disease. Our findings provide new insights into the pathogenesis and pathophysiology of Kawasaki disease.

• 出版日期2012-5
• 单位河北医科大学; 西北大学