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
2006
A 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