2021
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease
Hoggart C, Shimizu C, Galassini R, Wright V, Shailes H, Bellos E, Herberg J, Pollard A, O’Connor D, Choi S, Seaby E, Menikou S, Hibberd M, Sallah N, Burgner D, Brogan P, Patel H, Kim J, Tremoulet A, Salo E, van Stijn D, Kuijpers T, Burns J, Levin M. Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease. European Journal Of Human Genetics 2021, 29: 1734-1744. PMID: 33772158, PMCID: PMC7994355, DOI: 10.1038/s41431-021-00838-5.Peer-Reviewed Original ResearchMeSH KeywordsCaspase 3Coronary AneurysmHumansMucocutaneous Lymph Node SyndromePhosphotransferases (Alcohol Group Acceptor)Polymorphism, Single NucleotideProteinsQuantitative Trait LociReceptors, IgGConceptsGenome-wide association studiesIntergenic regionNovel lociChromosome 20q13Second genome-wide association studyEuropean genome-wide association studyValidation of lociJapanese genome-wide association studiesGWAS summary dataAssociated lociGenomic regionsGenome dataPutative lociDifferent genesRisk allelesAssociation studiesEuropean descentLociGenetic variantsAllelesSNVsWider significanceGenesSusceptibilityCASP3
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
Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies
Wang M, Ji Z, Wang S, Kim J, Yang H, Jiang X, Ohno-Machado L. Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies. Bioinformatics 2017, 33: 3716-3725. PMID: 29036461, PMCID: PMC5860319, DOI: 10.1093/bioinformatics/btx470.Peer-Reviewed Original ResearchChildFamilyGenetic PrivacyGenome-Wide Association StudyHumansLinkage DisequilibriumParentsPolymorphism, Single NucleotideSoftwareWhole 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