Coronary artery lesions in Kawasaki disease are related to gene polymorphisms

The risk of coronary artery lesions (CALs) in Kawasaki disease (KD) is related to CYP2E1 gene polymorphisms, a study from Taiwan confirmed. Investigators extracted DNA from whole blood cells of the 340 participants, who received a single dose of intravenous immunoglobulin (IVIG) when first diagnosed with KD. The patients, 66.5% of whom were male, were aged up to 12 years and had a mean age of 1.6 years. More than 35% of them experienced CAL formation, and 4.1% formed an aneurysm. Of these, 12.6% did not respond to the initial IVIG treatment.

Next: Study validates new test for bacterial vs viral infections

Investigators selected 6 tag single-nucleotide polymorphisms (SNPs) of the CYP2E1 gene for study. They found that the patients with the SNP rs2070676 and rs915906 polymorphisms were at enhanced risk of CAL. For rs915906, the C/C genotype represented a higher risk of CAL, whereas with rs20760676 the G/G genotype took this role. However, investigators found no significant differences between groups that did or did not receive high-dose acetylsalicylic acid (150 patients with acute-phase KD) or with regard to age, gender distribution, IVIG resistance, or incidence of CAL formation (Chang LS, et al. Pediatr Inf Dis J. 2017;36[11]:1039-1043).

Thoughts from Dr Burke

This is another example of how advances in genetics are increasing our understanding of why certain individuals develop conditions and why some are more severely affected than others. One day, all this information may come together in an individualized approach to medicine in which we can predict severity of disease and target therapy based on genetic makeup of the patient.