2010
A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum
Walsh KM, Choi M, Oberg K, Kulke MH, Yao JC, Wu C, Jurkiewicz M, Hsu LI, Hooshmand SM, Hassan M, Janson ET, Cunningham JL, Vosburgh E, Sackler RS, Lifton RP, DeWan AT, Hoh J. A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. Endocrine Related Cancer 2010, 18: 171-180. PMID: 21139019, PMCID: PMC3221459, DOI: 10.1677/erc-10-0248.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCell DifferentiationCellsDNA Copy Number VariationsFemaleGenetic VariationGenome-Wide Association StudyHumansIleal NeoplasmsMaleMeta-Analysis as TopicMicroarray AnalysisNeoplasm StagingNeuroendocrine TumorsPilot ProjectsPolymorphism, Single NucleotideReview Literature as TopicConceptsLoss of heterozygosityDana-Farber Cancer InstituteTumor cellsMD Anderson Cancer CenterCarcinoid tumor cellsUppsala University HospitalPopulation-based controlsAnderson Cancer CenterCopy number variantsBonferroni-corrected levelBlood-derived DNACarcinoid cancerReal-time quantitative PCRCancer CenterNeuroendocrine tumorsUniversity HospitalNon-tumor cellsSerious conditionIndependent cohortCancer InstituteKb heterozygous deletionSmall sample sizePilot genome-wide association studyGenetic polymorphismsSingle nucleotide polymorphisms
2009
p53 responsive elements in human retrotransposons
Harris CR, DeWan A, Zupnick A, Normart R, Gabriel A, Prives C, Levine AJ, Hoh J. p53 responsive elements in human retrotransposons. Oncogene 2009, 28: 3857-3865. PMID: 19718052, PMCID: PMC3193277, DOI: 10.1038/onc.2009.246.Peer-Reviewed Original ResearchConceptsP53-responsive elementResponsive elementHuman genomeL1 promoterL1 elementsP53 DNA binding sitesRepetitive DNA elementsDNA binding sitesL1 mRNAP53 proteinCytosine methylationNuclear element-1DNA elementsGenomic stabilityHuman retrotransposonsP53-dependent processesGenomic changesGenomic protectionGenomeElement 1L1 mRNA expressionProteinBinding sitesPromoterL1 protein
2007
Linkage Disequilibrium Mapping for Complex Disease Genes
DeWan A, Klein RJ, Hoh J. Linkage Disequilibrium Mapping for Complex Disease Genes. Methods In Molecular Biology 2007, 376: 85-107. PMID: 17984540, DOI: 10.1007/978-1-59745-389-9_7.Books
2006
HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
DeWan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J. HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration. Science 2006, 314: 989-992. PMID: 17053108, DOI: 10.1126/science.1133807.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAsian PeopleChromatin ImmunoprecipitationChromosomes, Human, Pair 10FemaleGenetic Predisposition to DiseaseGenotypeHeLa CellsHigh-Temperature Requirement A Serine Peptidase 1HumansLinkage DisequilibriumMacular DegenerationMaleMiddle AgedPolymorphism, Single NucleotidePromoter Regions, GeneticRetinal NeovascularizationSerine EndopeptidasesSerum Response FactorTranscription Factor AP-2ConceptsAssociation mapping strategySerine protease genesSingle nucleotide polymorphismsHTRA1 promoter polymorphismPromoter regionProtease geneChromosome 10q26H geneRisk-associated genotypesGenesGenetic risk factorsMajor genetic risk factorWild-type genotypeFactor H genePolymorphismGenotypesMapping strategyComplement factor H (CFH) genePromoter polymorphismHtrA1Age-related macular degenerationA Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, DeWan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K. A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration. Science 2006, 314: 992-993. PMID: 17053109, DOI: 10.1126/science.1133811.Peer-Reviewed Original ResearchMeSH KeywordsAgedAgingAllelesCase-Control StudiesChromosomes, Human, Pair 10Cohort StudiesFemaleGenetic Predisposition to DiseaseGenotypeHigh-Temperature Requirement A Serine Peptidase 1HomozygoteHumansLymphocytesMacular DegenerationMaleMiddle AgedPigment Epithelium of EyePolymorphism, Single NucleotidePromoter Regions, GeneticRetinal DrusenReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSerine EndopeptidasesWhite PeopleConceptsAge-related macular degenerationAMD patientsMacular degenerationRisk of AMDPopulation attributable riskIrreversible vision lossStrong genetic predispositionRetinal pigment epitheliumAMD pathogenesisAttributable riskVision lossElevated expression levelsCommon causeSecreted serine proteaseNormal controlsGenetic predispositionPigment epitheliumCaucasian cohortAMD casesAMD susceptibilityIncreases SusceptibilityRisk allelesHTRA1 geneSingle nucleotide polymorphismsPotential new pathways
2005
Complement Factor H Polymorphism in Age-Related Macular Degeneration
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005, 308: 385-389. PMID: 15761122, PMCID: PMC1512523, DOI: 10.1126/science.1109557.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAllelesAmino Acid SubstitutionCase-Control StudiesChoroidChromosomes, Human, Pair 1Complement Factor HComplement Membrane Attack ComplexExonsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHistidineHumansImmunity, InnateIntronsLinkage DisequilibriumMacular DegenerationMaleOligonucleotide Array Sequence AnalysisPigment Epithelium of EyePolymorphism, GeneticPolymorphism, Single NucleotideRisk FactorsSmokingConceptsAge-related macular degenerationComplement factor H (CFH) geneMacular degenerationLikelihood of AMDComplement Factor H PolymorphismRisk allelesC-reactive proteinFactor H geneAmino acids 402H polymorphismCFH geneFamily-based studyMajor causeSingle nucleotide polymorphismsCommon variantsDegenerationPolymorphismH gene
2001
Two Approaches for Consolidating Results from Genome Scans of Complex Traits: Selection Methods and Scan Statistics
Gordon D, Hoh J, Finch S, Levenstien M, Edington J, EdingtonLi W, Majewski J, Ott J. Two Approaches for Consolidating Results from Genome Scans of Complex Traits: Selection Methods and Scan Statistics. Genetic Epidemiology 2001, 21: s396-s402. PMID: 11793706, DOI: 10.1002/gepi.2001.21.s1.s396.Peer-Reviewed Original ResearchConceptsAffected sib-pair testsFraction of markersLevel of significanceScan statisticTwo-point lodSusceptibility genesSib-pair testSingle-locus statisticsEmpirical p-valuesSimulated null dataSib pairsGenome scanMarker lociTDT testLinkage analysisComplex traitsGenotype dataSignificance levelGenesEmpirical significance levelsP-valueChromosomeReplicated 5Analysis of simulated dataReplication