2019
Retrospective Association Analysis of Longitudinal Binary Traits Identifies Important Loci and Pathways in Cocaine Use
Wu W, Wang Z, Xu K, Zhang X, Amei A, Gelernter J, Zhao H, Justice AC, Wang Z. Retrospective Association Analysis of Longitudinal Binary Traits Identifies Important Loci and Pathways in Cocaine Use. Genetics 2019, 213: 1225-1236. PMID: 31591132, PMCID: PMC6893384, DOI: 10.1534/genetics.119.302598.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation analysisGenome-wide association analysisCase-control genome-wide association studyPhenotype model misspecificationImportant locusGenetic architectureComplex traitsGenetic association analysisGene mappingGenome scanPathway analysisAssociation studiesAxonal guidanceGenetic variantsBinary traitsAssociation TestElectronic health record-based studiesPathwayImportant pathwayLociTraitsPhenotype distributionLongitudinal phenotypesPhenotype
2011
HapMap-based study of human soluble glutathione S-transferase enzymes
Polimanti R, Piacentini S, Fuciarelli M. HapMap-based study of human soluble glutathione S-transferase enzymes. Pharmacogenetics And Genomics 2011, 21: 665-672. PMID: 21799460, DOI: 10.1097/fpc.0b013e328349da4d.Peer-Reviewed Original ResearchConceptsNatural selectionGST genesGenetic variabilityGlutathione S-transferase enzymesSingle nucleotide polymorphism (SNP) diversityHuman genome regionsHuman demographic historyHuman genetic variabilityGST SNPsInternational HapMap ProjectSingle nucleotide substitutionChromosomal clustersDemographic historyGenome regionsGenome scanCellular detoxificationCandidate genesHapMap projectNucleotide substitutionsGenesHapMap dataComplex diseasesPopulation differencesF-statisticsSNPs
2010
Confirmation and Generalization of an Alcohol-Dependence Locus on Chromosome 10q
Panhuysen CI, Kranzler HR, Yu Y, Weiss RD, Brady K, Poling J, Farrer LA, Gelernter J. Confirmation and Generalization of an Alcohol-Dependence Locus on Chromosome 10q. Neuropsychopharmacology 2010, 35: 1325-1332. PMID: 20147890, PMCID: PMC2855759, DOI: 10.1038/npp.2010.1.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlcohol-Induced Disorders, Nervous SystemAlcoholismBlack or African AmericanChromosome MappingChromosomes, Human, Pair 10FemaleGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPenetranceWhite PeopleYoung AdultConceptsLinkage peakLOD scoreGenome-wide linkage scanLinkage analysisSignificant linkage peakNon-parametric linkage analysisParametric linkage analysisChromosome 10 markersSignificant LOD scorePeak lod scoreGenome scanLinkage scanRisk lociChromosome 10Chromosome 7Suggestive linkageAA sampleAD-related traitsLociChromosome 10qDistinct populationsTraitsEA samplesFamilyAD phenotype
2009
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S, Baranzini S, McCauley J, Pericak-Vance M, Haines J, Gibson R, Naeglin Y, Uitdehaag B, Matthews P, Kappos L, Polman C, McArdle W, Strachan D, Evans D, Cross A, Daly M, Compston A, Sawcer S, Weiner H, Hauser S, Hafler D, Oksenberg J. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nature Genetics 2009, 41: 776-782. PMID: 19525953, PMCID: PMC2757648, DOI: 10.1038/ng.401.Peer-Reviewed Original Research
2004
Linkage analysis of ordinal traits for pedigree data
Feng R, Leckman JF, Zhang H. Linkage analysis of ordinal traits for pedigree data. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 16739-16744. PMID: 15548606, PMCID: PMC534720, DOI: 10.1073/pnas.0404623101.Peer-Reviewed Original ResearchConceptsLinkage analysisOrdinal traitsTourette Syndrome Association International ConsortiumLinkage analysis methodsQuantitative traitsEvidence of linkageGenome scanLinkage scanHuman diseasesAllele sharingTraitsPedigree dataInheritance patternDichotomous traitsSignificant allele sharingPhenotypeProportional odds logistic modelGENEHUNTERGenesGeneticsMarkersInternational ConsortiumGenome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus
Gelernter J, Page GP, Stein MB, Woods SW. Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus. American Journal Of Psychiatry 2004, 161: 59-66. PMID: 14702251, DOI: 10.1176/appi.ajp.161.1.59.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanLinkage scanChromosome 16LOD scoreGenetic linkage analysisNorepinephrine transporter proteinLinkage genome scanGenomic locationEntire genomeChromosome 16 markersGenome scanMultipoint LOD scoreRisk lociTransporter proteinsGenetic markersLinkage analysisSusceptibility lociChromosome 9Physiological candidatesLocus predisposingLociZlr scoreAmerican pedigreesX softwareD16S415
2001
Linkage genome scan for loci predisposing to panic disorder or agoraphobia
Gelernter J, Bonvicini K, Page G, Woods S, Goddard A, Kruger S, Pauls D, Goodson S. Linkage genome scan for loci predisposing to panic disorder or agoraphobia. American Journal Of Medical Genetics 2001, 105: 548-557. PMID: 11496373, DOI: 10.1002/ajmg.1496.Peer-Reviewed Original ResearchMeSH KeywordsAgoraphobiaChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 14Chromosomes, Human, Pair 3Chromosomes, Human, Pair 4Family HealthFemaleGenetic Predisposition to DiseaseGenome, HumanHumansLod ScoreMaleMicrosatellite RepeatsPanic DisorderPedigreeConceptsLinkage genome scanGenome scanChromosome 3LOD scoreSuggestive linkagePrevious genome scanComplex traitsGenomic regionsHeritable anxiety disordersGenetic lociMultipoint LOD scoreCandidate genesRisk lociChromosome 1Chromosome 11pSusceptibility lociLociStatistical supportLinkage resultsNPL analysisPotential lociNPL scoreAmerican pedigreesSingle familyPotential linkageTwo 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
1997
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method
Sirugo G, Deinard A, Kidd J, Kidd K. Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method. Human Molecular Genetics 1997, 6: 403-408. PMID: 9147643, DOI: 10.1093/hmg/6.3.403.Peer-Reviewed Original ResearchConceptsCTG/CAGPygmy chimpanzeesCommon chimpanzeesRepeat lengthRandom genetic driftOrang-utansHuman populationDisease association studiesGenetic driftHuman genomeOverall mutation rateGenome scanAssociation studiesMutation rateBiaka PygmiesExpansion mutationRepeat expansionTotal genome scanPopulation differencesPopulation stratificationNon-human primatesRepeat expansion detection (RED) methodExpansion detectionChimpanzeesMutations
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