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