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 degeneration
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