This variant, formerly titled KAWASAKI DISEASE, SUSCEPTIBILITY TO, has been reclassified because its contribution to the disorder not been confirmed.
Onouchi et al. (2008) found a significant association between susceptibility to Kawasaki disease (611775) and a functional SNP, which the authors designated itpkc_3 (rs28493229), in the ITPKC gene. It was associated also with increase in coronary artery lesions in both Japanese and U.S. children. Among 78 affected Japanese sib pairs, 40 pairs shared more than one allele near itpkc_3; in this subset, the itpkc_3 allele was overrepresented compared to controls (OR = 2.46, 95% CI 1.63-3.73). The C allele of rs28493229 was associated with the increased risk.
In an association study involving 385 unrelated Taiwanese children with Kawasaki disease, 140 with coronary artery lesions, and 1,158 ethnically matched healthy controls, Chi et al. (2010) did not find a statistically significant association between the ITPKC gene SNP rs28493229 and Kawasaki disease or coronary artery lesions in Taiwanese children.
Hamosh (2020) found that this G-C variant was present in 23,577 of 198,428 alleles and in 1,596 homozygotes in the gnomAD database, with an overall frequency of 0.1188 (May 6, 2020).
