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