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

• Published in: Nature genetics Vol. 44; no. 5; pp. 522 - 525
• Main Authors: Lee, Yi-Ching, Kuo, Ho-Chang, Chang, Jeng-Sheng, Chang, Luan-Yin, Huang, Li-Min, Chen, Ming-Ren, Liang, Chi-Di, Chi, Hsin, Huang, Fu-Yuan, Lee, Meng-Luen, Huang, Yhu-Chering, Hwang, Betau, Chiu, Nan-Chang, Hwang, Kao-Pin, Lee, Pi-Chang, Chang, Li-Ching, Liu, Yi-Min, Chen, Ying-Ju, Chen, Chien-Hsiun, Alliance, Taiwan Pediatric ID, Chen, Yuan-Tsong, Tsai, Fuu-Jen, Wu, Jer-Yuarn
• 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; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Case-Control Studies; 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; letter; Medical sciences; Mucocutaneous Lymph Node Syndrome - genetics; Polymorphism, Single Nucleotide - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Taiwan; Taiwan; Vascular disease; Kawasaki syndrome; Immunopathology; Vasculitis; Systemic disease; Autoimmune disease; Cardiovascular disease; Locus
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.2227

Jer-Yuarn Wu, Fuu-Jen Tsai, Yuan-Tsong Chen and colleagues report a genome-wide association study of Kawasaki disease. They show that common variants near BLK and CD40 influence susceptibility to this acute childhood vasculitis. 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.