2019
Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison
Sun Y, Chang S, Wang F, Sun H, Ni Z, Yue W, Zhou H, Gelernter J, Malison RT, Kalayasiri R, Wu P, Lu L, Shi J. Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison. Translational Psychiatry 2019, 9: 249. PMID: 31591379, PMCID: PMC6779867, DOI: 10.1038/s41398-019-0586-3.Peer-Reviewed Original ResearchAdultAlcohol DehydrogenaseAlcoholismAldehyde Dehydrogenase, MitochondrialAsian PeopleBlack or African AmericanCase-Control StudiesChinaCross-Cultural ComparisonGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLogistic ModelsMaleMiddle AgedMultifactorial InheritancePolymorphism, Single NucleotideWhite PeopleYoung Adult
2018
Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population
Gelernter J, Zhou H, Nuñez YZ, Mutirangura A, Malison RT, Kalayasiri R. Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population. Alcohol Clinical And Experimental Research 2018, 42: 861-868. PMID: 29460428, PMCID: PMC5916336, DOI: 10.1111/acer.13614.Peer-Reviewed Original ResearchConceptsGenomewide association studiesAssociation studiesRisk genesAldehyde dehydrogenase 2Prior biological informationAfrican ancestry populationsRelated traitsSame geneBiological informationAlcohol dehydrogenasesSignificant pleiotropyDehydrogenase BGenesFunctional variantsPsychiatric traitsGenomewide significant associationPleiotropy analysisTraitsAncestry populationsFirst genomewide association studyPleiotropyDehydrogenase 2Null variants
2015
Ancestry informative markers for distinguishing between Thai populations based on genome-wide association datasets
Vongpaisarnsin K, Listman JB, Malison RT, Gelernter J. Ancestry informative markers for distinguishing between Thai populations based on genome-wide association datasets. Legal Medicine 2015, 17: 245-250. PMID: 25759192, PMCID: PMC4480199, DOI: 10.1016/j.legalmed.2015.02.004.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAncestry informative markersAssociation studiesGenome-wide association datasetInformative markersGenetic structureHapMap populationsSNP dataInternational HapMap databaseSuch SNPsEast Asian populationsHapMap databaseSNPsMarkersPopulationDiversityAsian populationsEfficient strategyThai population
2013
ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample
Quillen EE, Chen X, Almasy L, Yang F, He H, Li X, Wang X, Liu T, Hao W, Deng H, Kranzler HR, Gelernter J. ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2013, 165: 103-110. PMID: 24277619, PMCID: PMC4149216, DOI: 10.1002/ajmg.b.32213.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCandidate single nucleotide polymorphismsGenome-wide association analysisCandidate gene studiesPhenotypic variationMajor genetic determinantGWAS studiesHeritable phenotypesAldehyde dehydrogenase deficiencyGene studiesAssociation analysisRisk genesLinkage disequilibriumGenetic determinantsExtended pedigreesNucleotide polymorphismsNorthern Hunan ProvinceAD-related phenotypesPhenotypeALDH2Consumption rateCCDC63
2011
Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians
Li D, Zhao H, Gelernter J. Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians. Human Genetics 2011, 131: 725-737. PMID: 22102315, PMCID: PMC3548401, DOI: 10.1007/s00439-011-1116-4.Peer-Reviewed Original ResearchConceptsAlcohol dependenceAlcohol-induced liver diseaseStrong associationCase-control studyPathogenesis of ADSub-group analysisStrong protective effectRandom-effects modelP-valueAldehyde dehydrogenase 2 geneLiver diseaseMedical illnessMedical diseasesProtective effectAlcohol abuseLys alleleAcetaldehyde metabolismAsian populationsStatistical significanceStrict criteriaALDH2 geneEffects modelAssociationDiseaseDominant model
2010
Identification of population substructure among Jews using STR markers and dependence on reference populations included
Listman JB, Hasin D, Kranzler HR, Malison RT, Mutirangura A, Sughondhabirom A, Aharonovich E, Spivak B, Gelernter J. Identification of population substructure among Jews using STR markers and dependence on reference populations included. BMC Genomic Data 2010, 11: 48. PMID: 20546593, PMCID: PMC2896335, DOI: 10.1186/1471-2156-11-48.Peer-Reviewed Original ResearchConceptsAssociation studiesPopulation substructureGenetic historyPopulation genetic historyMajor continental populationsSTR markersFuture genetic studiesProportion of ancestryChromosomal dataContinental populationsMitochondrial DNAPopulation structureParental populationsMarker choiceRelated populationsGenetic signaturesGenetic studiesAutosomal STR markersGenetic componentSTR panelNon-Ashkenazi Jewish populationsAsian clusterPopulation informationFuture investigationsPopulation
2007
Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation
Hernandez-Avila CA, Covault J, Wand G, Zhang H, Gelernter J, Kranzler HR. Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation. Pharmacogenetics And Genomics 2007, 17: 1031-1038. PMID: 18004207, DOI: 10.1097/fpc.0b013e3282f0b99c.Peer-Reviewed Original ResearchMeSH KeywordsAdrenocorticotropic HormoneAdultAllelesAmino Acid SubstitutionAsian PeopleDouble-Blind MethodFemaleGenetics, PopulationGenotypeHumansHydrocortisoneHypothalamo-Hypophyseal SystemMaleNaloxonePharmacogeneticsPituitary-Adrenal SystemPolymorphism, Single NucleotideReceptors, Opioid, muWhite PeopleConceptsHPA axis activationCortisol responseAsn40 homozygotesAsn40Asp polymorphismAsp40 alleleSingle nucleotide polymorphism A118GHPA axis responsePlacebo-controlled administrationΜ-opioid receptor geneGreater cortisol responseIntravenous naloxoneOpioid blockadeAxis activationAdrenocorticotropic hormoneA118GHealthy individualsOPRM1 SNPsNaloxoneCortisol concentrationsHormonal responsesEuropean AmericansObserved associationsHealthy participantsWhole bloodReceptor geneSequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research
Hirunsatit R, Ilomäki R, Malison R, Räsänen P, Ilomäki E, Kranzler HR, Kosten T, Sughondhabirom A, Thavichachart N, Tangwongchai S, Listman J, Mutirangura A, Gelernter J, Lappalainen J. Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research. BMC Genomic Data 2007, 8: 71. PMID: 17941974, PMCID: PMC2175509, DOI: 10.1186/1471-2156-8-71.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAsian PeopleBlack or African AmericanFinlandGABA Plasma Membrane Transport ProteinsGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansLinkage DisequilibriumPharmacogeneticsPolymorphism, Single NucleotidePromoter Regions, GeneticRecombination, GeneticSequence Analysis, DNAThailandWhite PeopleConceptsLinkage disequilibriumGenetic diversityVariable number tandem repeatHigh genetic diversityPopulation-specific variantsTransporter 1 geneProblematic genesRecombination hotspotsGenetic variationSequence variationContinental groupsIntronic regionsGenetic studiesLD blocksTandem repeatsNumber tandem repeatGAT-1 functionCandidate allelesLD patternsPopulation differencesNovel targetTag SNPsSuch variantsGenesTransporter 1Demographic changes and marker properties affect detection of human population differentiation
Listman JB, Malison RT, Sughondhabirom A, Yang BZ, Raaum RL, Thavichachart N, Sanichwankul K, Kranzler HR, Tangwonchai S, Mutirangura A, Disotell TR, Gelernter J. Demographic changes and marker properties affect detection of human population differentiation. BMC Genomic Data 2007, 8: 21. PMID: 17498298, PMCID: PMC1876243, DOI: 10.1186/1471-2156-8-21.Peer-Reviewed Original Research
1998
DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects
Gelernter J, Kranzler H, Cubells JF, Ichinose H, Nagatsu T. DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects. Genomics 1998, 51: 21-26. PMID: 9693029, DOI: 10.1006/geno.1998.5264.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumFunctional variantsSignificant linkage disequilibriumMutational analysis studiesFirst intronKb 5Linkage disequilibriaFrequencies of haplotypesPopulation stratificationGenetic associationDrd2 promoterPhysiological basisAllele frequenciesPhysiological relationshipGenesReceptor allelesEuropean-American subjectsD2 dopamine receptor (DRD2) allelesDisequilibriumBehavioral phenotypesPhenotypeFunctional meaningEuropean originVariantsAmerican population
1997
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
Gelernter J, Kranzler H, Cubells J. Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects. Human Genetics 1997, 101: 243-246. PMID: 9402979, DOI: 10.1007/s004390050624.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAsian PeopleBlack PeopleCarrier ProteinsEuropeFemaleGene FrequencyHaplotypesHumansJapanLinkage DisequilibriumMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsUnited StatesWhite PeopleConceptsPairs of populationsRandom genetic driftHaplotype frequenciesAlters transcriptional activityDifferent behavioral adaptationsAllele frequenciesGenetic driftVariable number tandem repeatGenetic variationSequence polymorphismsTranscriptional activityPromoter regionBehavioral variationNeutral polymorphismsAssociation studiesTandem repeatsNumber tandem repeatSLC6A4 locusDepression-related traitsProtein allelesLinkage disequilibriumLociPopulation differencesPopulation stratificationExon 2