Association of an IGHV3-66 gene variant with Kawasaki disease

J Hum Genet. 2021 May;66(5):475-489. doi: 10.1038/s10038-020-00864-z. Epub 2020 Oct 26.

Abstract

In a meta-analysis of three GWAS for susceptibility to Kawasaki disease (KD) conducted in Japan, Korea, and Taiwan and follow-up studies with a total of 11,265 subjects (3428 cases and 7837 controls), a significantly associated SNV in the immunoglobulin heavy variable gene (IGHV) cluster in 14q33.32 was identified (rs4774175; OR = 1.20, P = 6.0 × 10-9). Investigation of nonsynonymous SNVs of the IGHV cluster in 9335 Japanese subjects identified the C allele of rs6423677, located in IGHV3-66, as the most significant reproducible association (OR = 1.25, P = 6.8 × 10-10 in 3603 cases and 5731 controls). We observed highly skewed allelic usage of IGHV3-66, wherein the rs6423677 A allele was nearly abolished in the transcripts in peripheral blood mononuclear cells of both KD patients and healthy adults. Association of the high-expression allele with KD strongly indicates some active roles of B-cells or endogenous immunoglobulins in the disease pathogenesis. Considering that significant association of SNVs in the IGHV region with disease susceptibility was previously known only for rheumatic heart disease (RHD), a complication of acute rheumatic fever (ARF), these observations suggest that common B-cell related mechanisms may mediate the symptomology of KD and ARF as well as RHD.

Publication types

  • Meta-Analysis

MeSH terms

  • Adult
  • Alleles
  • B-Lymphocytes / metabolism
  • Computer Simulation
  • Datasets as Topic
  • Follow-Up Studies
  • Gene Expression Regulation
  • Genes, Immunoglobulin Heavy Chain*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Japan / epidemiology
  • Leukocytes / metabolism
  • Linkage Disequilibrium
  • Models, Genetic
  • Mucocutaneous Lymph Node Syndrome / epidemiology
  • Mucocutaneous Lymph Node Syndrome / genetics*
  • Polymorphism, Single Nucleotide
  • Republic of Korea / epidemiology
  • Taiwan / epidemiology
  • Transcription, Genetic