The genetics of Kawasaki disease

@article{Onouchi2017TheGO,
  title={The genetics of Kawasaki disease},
  author={Yoshihiro Onouchi},
  journal={International Journal of Rheumatic Diseases},
  year={2017},
  volume={21}
}
  • Y. Onouchi
  • Published 19 November 2017
  • Biology, Medicine
  • International Journal of Rheumatic Diseases
Kawasaki disease (KD) is a complex disorder which affects genetically susceptible infants and children. Several susceptibility genes (e.g., ITPKC, CASP3, CD40 and ORAI) and chromosomal regions have been identified through genome‐wide association and genome‐wide linkage studies to have association with KD. Knowledge of susceptibility genes involved in the pathogenesis of KD may provide new insights into diagnosis and treatment of this condition. However, there is much that we still do not know… 

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References

SHOWING 1-10 OF 112 REFERENCES

Molecular Genetics of Kawasaki Disease

The candidate gene association studies to date of Kawasaki disease are reviewed and the recent findings in genome-wide approach are introduced, which revealed the importance of Ca2+/nuclear factor of activated T-cells pathway in the pathogenesis of KD.

Common variants in CASP3 confer susceptibility to Kawasaki disease.

It is reported that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and US subjects of European ancestry.

Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis

Two new loci are reported, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10−8) and may lead to a better understanding of the role of immune activation and inflammation in Kawasaki Disease pathogenesis.

CD40 ligand gene and Kawasaki disease

A role of CD40L in the pathogenesis of CAL is suggested and might explain the excess of males affected with KD and a newly identified SNP in intron 4 is marginally over-represented in KD patients as compared to controls.

Genetic Polymorphisms in the CD40 Ligand Gene and Kawasaki Disease

These results provide little support for specific CD40L SNPs in the susceptibility or CAL development of KD in Taiwanese children, and it will be necessary to validate or replicate this association in other independent large-size ethnic groups.

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12

This is the first large-scale study of the genetic susceptibility to Kawasaki disease, and the results could greatly promote research on identification of the molecular pathogenesis of KD.

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

A functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also with an increased risk of coronary artery lesions is identified.

Variations in ORAI1 Gene Associated with Kawasaki Disease

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.

A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease

Results implicate a locus in the 1p31 region and the PELI1 gene locu in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC 4 for Kawasaki disease

Genetic data suggest that ABCC4 could play a fundamental role in KD pathogenesis with effects on immune activation and vascular response to injury, and a combined linkage and association approach is used to identify other potential KD susceptibility genes which were not identified by the GWAS.
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