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

• Published in: Nature genetics Vol. 44; no. 5; pp. 517 - 521
• Main Authors: 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, Miyawaki, Masakazu, Oishi, Ko, Yamaga, Hironobu, Aoyagi, Noriyuki, Iwahashi, Seiji, Miyashita, Ritsuko, Murata, Yuji, Sasago, Kumiko, Takahashi, Atsushi, Kamatani, Naoyuki, Kubo, Michiaki, Tsunoda, Tatsuhiko, Hata, Akira, Nakamura, Yusuke, Tanaka, Toshihiro
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.05.2012; Nature Publishing Group
• Subjects: 631/208/205/2138; 631/208/2489/144; 631/250/249/1313; Agriculture; Aneurysms; Animal Genetics and Genomics; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Case-Control Studies; Disease; Fundamental and applied biological sciences. Psychology; Gene Function; Genetic Loci; Genetic Markers; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Human Genetics; Humans; Immunoglobulins; letter; Medical sciences; Mucocutaneous Lymph Node Syndrome - genetics; Polymorphism, Single Nucleotide - genetics; Receptors, IgG - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Studies; Vascular disease; Kawasaki syndrome; Immunopathology; Vasculitis; Association; Systemic disease; Autoimmune disease; Cardiovascular disease; Risk; Identification; Locus
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.2220

Yoshihiro Onouchi and colleagues report the results of a genome-wide association study of Kawasaki disease. They identify three new risk loci, all mapping near genes previously implicated in adult-onset autoimmune diseases. 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.