PropertyValue
?: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.
is ?:annotates of
?:creator
?:doi
  • 10.1038/s10038-020-00864-z
?:doi
?:journal
  • J_Hum_Genet
?:license
  • no-cc
?:pdf_json_files
  • document_parses/pdf_json/edf63aa2a1726c8d084ea6ce6a98ae9b916770f6.json
?:pmc_json_files
  • document_parses/pmc_json/PMC7585995.xml.json
?:pmcid
?:pmid
?:pmid
  • 33106546.0
?:publication_isRelatedTo_Disease
is ?:relation_isRelatedTo_publication of
?:sha_id
?:source
  • Medline; PMC
?:title
  • Association of an IGHV3-66 gene variant with Kawasaki disease
?:type
?:year
  • 2020-10-26

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