Which genetic variants are factors in the etiology of Kawasaki disease?

Updated: Jul 29, 2018
  • Author: Tina K Sosa, MD; Chief Editor: Russell W Steele, MD  more...
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A functional polymorphism of the inositol 1,4,5-triphosphate 3-kinase C (ITPKC) gene on band 19q13.2 has been found to be significantly associated with an increased susceptibility to developing KD. In addition, this polymorphism was associated with an increased risk of coronary artery lesions in both Japanese and American children. [33]

In a Dutch cohort, Breunis et al observed an association of KD with common genetic variants in the chemokine receptor gene-cluster CCR3-CCR2-CCR5. [34] The association of CCR2-CCR5 haplotypes and CCL3L1 copy number with KD, coronary artery lesions, and responses to IVIG have been reported in Japanese and other children. [35]

Genetic factors may influence the development of coronary artery lesions in Kawasaki disease. [36] In one study, genomic DNA was extracted from whole blood collected from 56 patients with Kawasaki disease who received IVIG treatment, and the genotypes for Fcg RIIIb-NA(1,2), Fcg RIIa-H/R131, and Fcg RIIIa-F/V158 were determined. About 23% of patients with the HH allele for the Fcg RIIa polymorphism developed coronary artery lesions, compared with 60% with the HR and RR alleles. HR and RR alleles may be a predictor of the progression of coronary lesions in KD before the start of IVIG.

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