2019
HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease
Shimizu C, Kim J, Eleftherohorinou H, Wright V, Hoang L, Tremoulet A, Franco A, Hibberd M, Takahashi A, Kubo M, Ito K, Tanaka T, Onouchi Y, Coin L, Levin M, Burns J, Shike H, Consortium O. HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease. Human Immunology 2019, 80: 731-738. PMID: 31122742, PMCID: PMC10793643, DOI: 10.1016/j.humimm.2019.04.020.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAmino Acid SequenceAmino Acid SubstitutionAntigen PresentationBinding SitesCohort StudiesGene FrequencyGenetic Predisposition to DiseaseGenotypeHistocompatibility TestingHLA-C AntigensHumansJapanMucocutaneous Lymph Node SyndromePeptidesPolymorphism, Single NucleotideProtein BindingProtein DomainsT-Lymphocytes, CytotoxicConceptsKawasaki diseaseCytotoxic T cellsSusceptible childrenJapanese cohortRisk A-alleleSingle cohort studyHLA class ISingle nucleotide variantsHLA-C variantsHLA-B geneCohort studyPediatric vasculitisAmino acid substitutionsT cellsKD susceptibilityHLAUnknown triggerA alleleRisk allelesClass ICohortInfluence susceptibilityAcid substitutionsNon-conservative amino acid substitutionsVasculitis
2017
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Kim J, Shimizu C, Kingsmore S, Veeraraghavan N, Levy E, dos Santos A, Yang H, Flatley J, Hoang L, Hibberd M, Tremoulet A, Harismendy O, Ohno-Machado L, Burns J. Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. PLOS ONE 2017, 12: e0170977. PMID: 28151979, PMCID: PMC5289527, DOI: 10.1371/journal.pone.0170977.Peer-Reviewed Original ResearchConceptsWhole genome sequencesGenome-wide association studiesToll-like receptor 6Single nucleotide variantsCommon disease-rare variant hypothesisExpression quantitative trait loci (eQTL) analysisDifferential expressionQuantitative trait locus (QTL) analysisCommon disease–common variantPathogen-associated molecular pattern recognitionIntegrative genomics approachIntronic single nucleotide variantsComplex genetic diseasesSequence quality scoresMolecular pattern recognitionWhole-genome sequencingGenomic approachesTranscriptome dataGenome sequenceSequence variationLocus analysisGenome sequencingAssociation studiesFunction of genotypeNucleotide variants