Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease

J Infect Dis. 2005 Jul 15;192(2):344-9. doi: 10.1086/430953. Epub 2005 Jun 8.

Abstract

Kawasaki disease (KD) is an enigmatic, self-limited vasculitis of childhood that is complicated by development of coronary-artery aneurysms. The high incidence of KD in Asian versus European populations prompted a search for genetic polymorphisms that are differentially distributed among these populations and that influence KD susceptibility. Here, we demonstrate a striking, inverse relationship between the worldwide distribution of CCR5- Delta 32 allele and the incidence of KD. In 164 KD patient-parent trios, 4 CCR5 haplotypes including the CCR5- Delta 32 allele were differentially transmitted from heterozygous parents to affected children. However, the magnitude of the reduced risk of KD associated with the CCR5- Delta 32 allele and certain CCR5 haplotypes was significantly greater in individuals who also possessed a high copy number of the gene encoding CCL3L1, the most potent CCR5 ligand. These findings, derived from the largest genetic study of any systemic vasculitis, suggest a central role of CCR5-CCL3L1 gene-gene interactions in KD susceptibility and the importance of gene modifiers in infectious diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chemokines, CC / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Genetic Carrier Screening
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Male
  • Models, Genetic
  • Mucocutaneous Lymph Node Syndrome / genetics*
  • Mucocutaneous Lymph Node Syndrome / immunology
  • Receptors, CCR5 / genetics*
  • Vasculitis / genetics
  • Vasculitis / immunology

Substances

  • CCL3L1 protein, human
  • Chemokines, CC
  • Genetic Markers
  • Immunoglobulins, Intravenous
  • Receptors, CCR5