Expressive

rs1013532 (STIM2): Kawasaki Disease Gene Variant

Key takeaways

  • rs1013532 sits in the STIM2-LINC02261 gene region, part of a gene family repeatedly cited among the most common genetic susceptibility factors for Kawasaki disease
  • Kawasaki disease is an acute blood-vessel inflammation and the leading cause of acquired heart disease in children in developed countries
  • A 2021 Polish GWAS cited STIM genes as among the most commonly identified susceptibility genes for Kawasaki disease
  • The available study does not directly test rs1013532 - the link to Kawasaki disease is at the STIM gene-family level only
  • Evidence for this specific variant must be considered preliminary based on currently available sources

Key takeaways

  • rs1013532 sits in the STIM2-LINC02261 gene region, part of a gene family repeatedly cited among the most common genetic susceptibility factors for Kawasaki disease
  • Kawasaki disease is an acute blood-vessel inflammation and the leading cause of acquired heart disease in children in developed countries
  • A 2021 Polish GWAS cited STIM genes as among the most commonly identified susceptibility genes for Kawasaki disease
  • The available study does not directly test rs1013532 - the link to Kawasaki disease is at the STIM gene-family level only
  • Evidence for this specific variant must be considered preliminary based on currently available sources

What the research says A genome-wide association study (GWAS) of Kawasaki disease (KD) - an acute febrile vasculitis, meaning fever-accompanied blood-vessel inflammation - in Polish children (119 KD cases versus 6,071 healthy controls) stated in its literature background that polymorphisms in STIM genes, the gene family that includes STIM2 (Stromal Interaction Molecule 2), are "among the most commonly identified" susceptibility genes for KD. The study's own primary analysis identified five statistically significant SNPs in separate genes (KIF25, PTPRJ, SPECC1L, and RPN2) in that cohort; rs1013532 was not among the variants directly examined.

Reported associations

  • Kawasaki disease susceptibility (gene-family level): The STIM gene family - which includes STIM2, near which rs1013532 is located - is cited as one of the most commonly identified genetic susceptibility gene classes for Kawasaki disease in a 2021 GWAS literature review. No direct association test, odds ratio, or p-value for rs1013532 specifically appears in the available source.

Evidence quality The single available source is a 2021 GWAS of Kawasaki disease in a Polish pediatric cohort (n=119 KD cases, n=6,071 population controls). This study does not directly test rs1013532; STIM genes appear only in the study's introductory literature summary, not in its results. No odds ratio, beta coefficient, p-value, or effect size for rs1013532 is reported anywhere in the provided text. The five SNPs the study did find significant (in KIF25, PTPRJ, SPECC1L, and RPN2) carry odds ratios of approximately 5.6 to 11.4, but those values apply to entirely different variants. The indirect mention of STIM genes as a known susceptibility class provides no quantitative data for this specific variant. Evidence for rs1013532 must therefore be considered absent as a direct finding; any implied relationship to KD derives from prior literature not supplied here.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is the STIM2 gene?

STIM2 (Stromal Interaction Molecule 2) is involved in calcium signaling within cells. The broader STIM gene family has been identified in multiple studies as among the most commonly implicated susceptibility genes for Kawasaki disease.

What is Kawasaki disease?

Kawasaki disease is an acute, self-limited febrile vasculitis - inflammation of blood vessels accompanied by fever - that primarily affects children under age 5. It is the leading cause of acquired cardiac disease in children in developed countries, with coronary artery involvement occurring in roughly 20% of cases.

Is rs1013532 directly associated with Kawasaki disease?

The available study does not directly examine rs1013532. It notes that STIM genes as a family - which includes STIM2, the gene near this variant - have been previously identified as susceptibility genes for Kawasaki disease. No direct effect size or p-value for rs1013532 is reported in the provided source.

What is LINC02261?

LINC02261 is a long intergenic non-coding RNA - a type of RNA molecule that does not produce protein but may have regulatory functions in the cell. It is located near STIM2 in the chromosomal region containing rs1013532. The available study does not report specific findings about LINC02261.

How strong is the evidence for rs1013532?

The evidence is very limited. The only available study does not test rs1013532 directly; the connection to Kawasaki disease is indirect, based on a background mention of STIM genes as a known susceptibility class. No replication data, effect sizes, or p-values for this specific variant are available from the provided sources.