ArticleRheumatology (Oxford, England)2022
Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.
Article in Rheumatology (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Host Genetic Regulation of NLRP3 Inflammasome Cytokines Reveals Immune and Vascular Pathways in HIV.medRxiv : the preprint server for health sciences · 2026Article
- Microscopic Polyangiitis Following Kawasaki Disease in a Patient With Autoimmune Predisposition.Cureus · 2026Article
- [Research advances in the etiology and pathogenesis of immunoglobulin A vasculitis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.Annals of the rheumatic diseases · 2023Article
- Integration of scRNA-Seq and bulk RNA-Seq uncover perturbed immune cell types and pathways of Kawasaki disease.Frontiers in immunology · 2023Article
- Regional Differences in Kawasaki Disease Incidence Reduction Before and After the Onset of the Coronavirus Disease 2019 Pandemic.The Journal of pediatrics · 2022Article
- IgA Vasculitis: Influence ofJournal of clinical medicine · 2022Article
- Gut Microbiota Dysbiosis in Childhood Vasculitis: A Perspective Comparative Pilot Study.Journal of personalized medicine · 2022Article
- IgA vasculitis update: Epidemiology, pathogenesis, and biomarkers.Frontiers in immunology · 2022Review
- IgA Vasculitis: Etiology, Treatment, Biomarkers and Epigenetic Changes.International journal of molecular sciences · 2021Review
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Authors and funding
21 authors at 12 institutions in 7 countries.
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No grant is acknowledged in the PubMed record.
Abstract
objectivesCombining of genomic data of different pathologies as a single phenotype has emerged as a useful strategy to identify genetic risk loci shared among immune-mediated diseases. Our study aimed to increase our knowledge of the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing the first comprehensive large-scale analysis on the genetic overlap between them.
methodsA total of 1190 vasculitis patients and 11 302 healthy controls were analysed. First, in the discovery phase, genome-wide data of 405 KD patients and 6252 controls and 215 IgAV patients and 1324 controls, all of European origin, were combined using an inverse variance meta-analysis. Second, the top associated polymorphisms were selected for replication in additional independent cohorts (570 cases and 3726 controls). Polymorphisms with P-values ≤5 × 10-8 in the global IgAV-KD meta-analysis were considered as shared genetic risk loci.
resultsA genetic variant, rs3743841, located in an intron of the NAGPA gene, reached genome-wide significance in the cross-disease meta-analysis (P = 8.06 × 10-10). Additionally, when IgAV was individually analysed, a strong association between rs3743841 and this vasculitis was also evident [P = 1.25 × 10-7; odds ratio = 1.47 (95% CI 1.27, 1.69)]. In silico functional annotation showed that this polymorphism acts as a regulatory variant modulating the expression levels of the NAGPA and SEC14L5 genes.
conclusionWe identified a new risk locus with pleiotropic effects on the two childhood vasculitides analysed. This locus represents the strongest non-HLA signal described for IgAV to date.
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