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Comparative Study
. 2012 Mar 25;44(5):517-21.
doi: 10.1038/ng.2220.

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

Yoshihiro Onouchi  1 , Kouichi Ozaki, Jane C Burns, Chisato Shimizu, Masaru Terai, Hiromichi Hamada, Takafumi Honda, Hiroyuki Suzuki, Tomohiro Suenaga, Takashi Takeuchi, Norishige Yoshikawa, Yoichi Suzuki, Kumi Yasukawa, Ryota Ebata, Kouji Higashi, Tsutomu Saji, Yasushi Kemmotsu, Shinichi Takatsuki, Kazunobu Ouchi, Fumio Kishi, Tetsushi Yoshikawa, Toshiro Nagai, Kunihiro Hamamoto, Yoshitake Sato, Akihito Honda, Hironobu Kobayashi, Junichi Sato, Shoichi Shibuta, Masakazu Miyawaki, Ko Oishi, Hironobu Yamaga, Noriyuki Aoyagi, Seiji Iwahashi, Ritsuko Miyashita, Yuji Murata, Kumiko Sasago, Atsushi Takahashi, Naoyuki Kamatani, Michiaki Kubo, Tatsuhiko Tsunoda, Akira Hata, Yusuke Nakamura, Toshihiro Tanaka; Japan Kawasaki Disease Genome Consortium; US Kawasaki Disease Genetics Consortium
Collaborators, Affiliations
Comparative Study

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

Yoshihiro Onouchi et al. Nat Genet. .

Abstract

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.

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