ArticleJournal of human genetics2019
Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- A rare ORAI1 missense variant associates with risk of vascular diseases in White British adults.PloS one · 2026Article
- Recent advances in research on gene polymorphisms in Kawasaki disease.World journal of clinical pediatrics · 2025Review
- Polymorphism-driven immune disruptions in Kawasaki disease across populations: decoding the role of T and B-cells.Frontiers in immunology · 2025Review
- A Tale of a Trail on How It Takes 5 Days of Kawasaki Disease to Initiate Coronary Artery Injury and Change the Lives of Children.Turkish archives of pediatrics · 2024Article
- Introducing a new index for selecting genetic polymorphisms for association studies.EXCLI journal · 2022Article
- Combined Single Nucleotide Variants ofChildren (Basel, Switzerland) · 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
- Article
- Immunogenetics of Kawasaki disease.Clinical reviews in allergy & immunology · 2020Review
- Kawasaki Disease: Global Burden and Genetic Background.Cardiology research · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investigated 3812 patients with KD and 2644 healthy individuals for variations in the protein-coding region of ORAI1. By re-sequencing the study participants' DNA, 27 variants with minor allele frequencies (MAFs) < 0.01 that had not been examined in the previous study were identified. Although no significant association with KD was observed either in single-variant analyses or in a collapsing method analysis of the 27 variants, stratification by MAFs, variant types, and predicted deleteriousness revealed that six rare, deleterious, missense variants (MAF < 0.001, CADD C-score ≥ 20) were exclusively present in KD patients, including three refractory cases (OR = ∞, P = 0.046). The six missense variants include p.Gly98Asp, which has been demonstrated to result in gain of function leading to constitutive Ca
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Registered trials
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.