A pediatric vasculitis and the leading cause of acquired heart disease in children in industrialized countries — a 2021 European-ancestry GWAS confirmed ITPKC as a susceptibility gene and found a separate, novel locus specific to the disease's most serious complication, coronary artery aneurysm.
Kawasaki disease (KD) is an acute vasculitis — inflammation of blood vessels — that mainly affects children under 5. Left untreated, it is the most frequent cause of acquired heart disease in children in industrialized countries, because the inflammation can damage the coronary arteries themselves.
Hoggart et al. 2021 ran two genome-wide association studies in people of European ancestry. The first tested susceptibility to Kawasaki disease itself, in 400 cases and 6,101 controls, with a further 1,955 people in replication. The second tested specifically for coronary artery aneurysm (CAA), the disease's most serious complication, in 200 CAA cases and 276 controls — a much smaller, complication-specific comparison.
The susceptibility GWAS confirmed rs3745213, a variant in ITPKC, at genome-wide significance (p=1×10⁻⁹). Each copy of the risk allele (T) was associated with roughly 1.6 times the odds of Kawasaki disease (95% CI 1.4–1.9) — replicating earlier findings from European and Asian cohorts rather than discovering the gene for the first time. ITPKC makes an enzyme that normally restrains T-cell and B-cell activation through the calcineurin/NFAT signaling pathway; a less active version of it is thought to let that immune activation run further than it otherwise would.
The separate CAA-specific GWAS found something new: a genome-wide-significant, intergenic locus on chromosome 20q13, not near any gene already linked to Kawasaki disease. That finding is not one of this page's variants — GWAS Catalog's public record for it does not carry a confirmed gene/rsID pairing — but it matters as context: the genetics of who gets Kawasaki disease at all, and the genetics of who goes on to develop its worst complication, are not necessarily the same genetics.
Kawasaki disease is diagnosed by its clinical picture — days of fever plus a set of characteristic signs — not by genotype. No guideline uses rs3745213 or any other genetic marker to diagnose Kawasaki disease or to decide treatment in an individual child.
Prompt treatment with intravenous immunoglobulin (IVIG) is what changes the outcome that matters most: it cuts the risk of coronary artery aneurysm from roughly 20–25% (untreated) to around 4%. A minority of children do not respond adequately to IVIG and remain at higher risk — the ITPKC finding above is a population-level susceptibility signal, not a way to identify those children in advance.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Kawasaki Disease comes down to these specific, well-studied positions — not a diagnosis.
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Kawasaki Disease. MyGeneLog™. https://www.mygenelog.com/conditions/kawasaki-disease
Kawasaki disease is an acute vasculitis mainly affecting children under 5. Left untreated, it is the most frequent cause of acquired heart disease in children in industrialized countries, because inflammation can damage the coronary arteries.
In 400 cases and 6,101 controls, replicated in 1,955 more people, each copy of the risk allele at rs3745213 (ITPKC) was linked to roughly 1.6 times the odds of Kawasaki disease (p=1×10⁻⁹) — confirming, not newly discovering, a gene already implicated in earlier European and Asian studies.
No. The same paper's separate, smaller GWAS (200 cases, 276 controls) found a distinct signal for that specific complication, on chromosome 20q13 — not ITPKC, and not a variant this page carries.
No. Kawasaki disease is diagnosed by its clinical picture, not genotype. Prompt IVIG treatment is what actually changes outcomes — it cuts coronary artery aneurysm risk from roughly 20–25% untreated to around 4%.
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