ArticleEuropean journal of human genetics : EJHG2021
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- No causal association between gut microbiota and kawasaki disease: a two-sample mendelian randomization study.Pediatric research · 2025Pooled it
- The Autophagy-Inflammasome Axis as a Molecular Switch: From Persistent Inflammation to Vascular Remodeling in IVIG-Resistant Kawasaki Disease.International journal of molecular sciences · 2026Review
- Oxidative stress-related genes in Kawasaki disease: a multi-omics Mendelian randomization study.Italian journal of pediatrics · 2026Article
- Multiomics approaches in Kawasaki disease: insights into pathogenesis and emerging directions for diagnosis and treatment.Clinical and experimental pediatrics · 2026Article
- Investigating the causal role of the gut microbiome in Kawasaki disease: mediating effects of immune cells.Clinical rheumatology · 2025Article
- Specific plasma lipid species in children are causally associated with kawasaki disease: a mendelian randomization analysis.Italian journal of pediatrics · 2025Article
- New avenues in childhood vasculitis.Pediatric rheumatology online journal · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Polymorphism-driven immune disruptions in Kawasaki disease across populations: decoding the role of T and B-cells.Frontiers in immunology · 2025Review
- Integration and validation of host transcript signatures, including a novel 3-transcript tuberculosis signature, to enable one-step multiclass diagnosis of childhood febrile disease.Journal of translational medicine · 2024Article
- Pharmacogenomics of coronary artery response to intravenous gamma globulin in kawasaki disease.NPJ genomic medicine · 2024Article
- Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes.Translational psychiatry · 2024Article
- The etiologies of Kawasaki disease.The Journal of clinical investigation · 2024Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Human Transcriptome Array Analysis Identifies CDR2 as a Novel Suppressed Gene for Kawasaki Disease.Diagnostics (Basel, Switzerland) · 2022Article
- Genomics elucidates both common and rare disease aetiology.European journal of human genetics : EJHG · 2021Article
- Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing.Genomics & informatics · 2021Article
- Anti-inflammatory Treatment of Kawasaki Disease: Comparison of Current Guidelines and Perspectives.Frontiers in medicine · 2021Review
Corrections and comments
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Authors and funding
27 authors at 9 institutions in 5 countries.
Funding
Abstract
Kawasaki disease (KD) is a paediatric vasculitis associated with coronary artery aneurysms (CAA). Genetic variants influencing susceptibility to KD have been previously identified, but no risk alleles have been validated that influence CAA formation. We conducted a genome-wide association study (GWAS) for CAA in KD patients of European descent with 200 cases and 276 controls. A second GWAS for susceptibility pooled KD cases with healthy paediatric controls from vaccine trials in the UK (n = 1609). Logistic regression mixed models were used for both GWASs. The susceptibility GWAS was meta-analysed with 400 KD cases and 6101 controls from a previous European GWAS, these results were further meta-analysed with Japanese GWASs at two putative loci. The CAA GWAS identified an intergenic region of chromosome 20q13 with multiple SNVs showing genome-wide significance. The risk allele of the most associated SNV (rs6017006) was present in 13% of cases and 4% of controls; in East Asian 1000 Genomes data, the allele was absent or rare. Susceptibility GWAS with meta-analysis with previously published European data identified two previously associated loci (ITPKC and FCGR2A). Further meta-analysis with Japanese GWAS summary data from the CASP3 and FAM167A genomic regions validated these loci in Europeans showing consistent effects of the top SNVs in both populations. We identified a novel locus for CAA in KD patients of European descent. The results suggest that different genes determine susceptibility to KD and development of CAA and future work should focus on the function of the intergenic region on chromosome 20q13.
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