Functional correlations between CXCL10/IP10 gene polymorphisms and risk of Kawasaki disease

Pediatr Allergy Immunol. 2021 Feb;32(2):363-370. doi: 10.1111/pai.13381. Epub 2020 Nov 6.

Abstract

Background: Kawasaki disease (KD) is an acute systemic vasculitis syndrome with unknown pathogen. The immune system has been suggested to involve in the pathogenesis in KD. IP10 is a chemoattractant for initiating T-cell activation. The aim of this study was to investigate the association between genetic polymorphisms of IP10 and KD.

Methods: A total of 354 KD patients and 1,709 control subjects (709 subjects in cohort 1 and 1,000 subjects in cohort 2) were enrolled in this study. Four tagging single nucleotide polymorphisms (rs3921, rs4256246, rs4508917, and rs4386624) were chosen for genotyping.

Results: Our results indicated that CC genotype of rs3921 and GG genotype of rs4386624 had higher frequency in KD patients compared to control. In addition, higher plasma IP10 level was observed in CC genotype of rs3921 than CG genotype and GG genotype. C/G haplotype carriers of rs3921/rs4386624 had 5.48-fold risk for KD compared to G/C haplotype carriers. Two-locus analysis further showed the combinatorial effects of rs3921 and rs4386624 in KD susceptibility.

Conclusions: This study indicated the close correlation between IP10 and the risk of Kawasaki disease.

Keywords: CXCL10; IP10; Kawasaki disease; SNP association study; in silico analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chemokine CXCL10* / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mucocutaneous Lymph Node Syndrome* / genetics
  • Polymorphism, Single Nucleotide

Substances

  • CXCL10 protein, human
  • Chemokine CXCL10