ArticlePloS one2016
Variations in ORAI1 Gene Associated with Kawasaki Disease.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 53 citations in OpenAlex.
- Etiology Model of Kawasaki Disease and Multisystem Inflammatory Syndromes: Mast Cell Activation.Current issues in molecular biology · 2026Article
- Potential alternatives in treatment of kawasaki disease to reduce the extremely rare risk of reye syndrome.Frontiers in pediatrics · 2026Review
- A rare ORAI1 missense variant associates with risk of vascular diseases in White British adults.PloS one · 2026Article
- Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).Advanced genetics (Hoboken, N.J.) · 2025Article
- Review
- Polymorphism-driven immune disruptions in Kawasaki disease across populations: decoding the role of T and B-cells.Frontiers in immunology · 2025Review
- Endothelial Dysfunction: Molecular Mechanisms and Therapeutic Strategies in Kawasaki Disease.International journal of molecular sciences · 2024Review
- The Central Role of Interleukin-1 Signalling in the Pathogenesis of Kawasaki Disease Vasculitis: Path to Translation.The Canadian journal of cardiology · 2024Review
- The etiologies of Kawasaki disease.The Journal of clinical investigation · 2024Review
- Research perspective in the clinical management of Kawasaki disease.Frontiers in pediatrics · 2024Review
- [Research advances in genetic polymorphisms in Kawasaki disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Multisystem inflammatory syndrome in children (MIS-C): Implications for long COVID.Inflammopharmacology · 2023Review
- Science CommuniCaCells · 2022Review
- Cytokine cascade in Kawasaki disease versus Kawasaki-like syndrome.Physiological research · 2022Review
- Combined Single Nucleotide Variants ofChildren (Basel, Switzerland) · 2021Article
- MicroRNA-223 Regulates the Development of Cardiovascular Lesions in LCWE-Induced Murine Kawasaki Disease Vasculitis by Repressing the NLRP3 Inflammasome.Frontiers in pediatrics · 2021Article
- ORAI1 CaFrontiers in cell and developmental biology · 2021Review
- Germline Genetic Association between Stromal Interaction Molecule 1 (STIM1) and Clinical Outcomes in Breast Cancer Patients.Journal of personalized medicine · 2020Article
- Multisystem Inflammatory Syndrome in Children (MIS-C) with COVID-19: Insights from simultaneous familial Kawasaki Disease cases.International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2020Article
- Immunogenetics of Kawasaki disease.Clinical reviews in allergy & immunology · 2020Review
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Authors and funding
44 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kawasaki disease (KD; MIM#61175) is a systemic vasculitis syndrome with unknown etiology which predominantly affects infants and children. Recent findings of susceptibility genes for KD suggest possible involvement of the Ca(2+)/NFAT pathway in the pathogenesis of KD. ORAI1 is a Ca(2+) release activated Ca(2+) (CRAC) channel mediating store-operated Ca(2+) entry (SOCE) on the plasma membrane. The gene for ORAI1 is located in chromosome 12q24 where a positive linkage signal was observed in our previous affected sib-pair study of KD. A common non-synonymous single nucleotide polymorphism located within exon 2 of ORAI1 (rs3741596) was significantly associated with KD (P = 0.028 in the discovery sample set (729 KD cases and 1,315 controls), P = 0.0056 in the replication sample set (1,813 KD cases vs. 1,097 controls) and P = 0.00041 in a meta-analysis by the Mantel-Haenszel method). Interestingly, frequency of the risk allele of rs3741596 is more than 20 times higher in Japanese compared to Europeans. We also found a rare 6 base-pair in-frame insertion variant associated with KD (rs141919534; 2,544 KD cases vs. 2,414 controls, P = 0.012). These data indicate that ORAI1 gene variations are associated with KD and may suggest the potential importance of the Ca(2+)/NFAT pathway in the pathogenesis of this disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.