2016
CHRNA5/A3/B4 Variant rs3743078 and Nicotine-Related Phenotypes: Indirect Effects Through Nicotine Craving.
Shmulewitz D, Meyers JL, Wall MM, Aharonovich E, Frisch A, Spivak B, Weizman A, Edenberg HJ, Gelernter J, Hasin DS. CHRNA5/A3/B4 Variant rs3743078 and Nicotine-Related Phenotypes: Indirect Effects Through Nicotine Craving. Journal Of Studies On Alcohol And Drugs 2016, 77: 227-37. PMID: 26997181, PMCID: PMC4803655, DOI: 10.15288/jsad.2016.77.227.Peer-Reviewed Original ResearchConceptsNicotine cravingFTND scoreNeuronal nicotinic acetylcholine receptor geneNicotine use disorderNicotinic acetylcholine receptor genesAcetylcholine receptor genesLifetime smokersCigarette smokingMore cigarettesHigher scoresNicotine dependenceFagerström TestTherapeutic targetUse disordersG alleleAllele GCHRNA5-CHRNA3CravingReceptor geneScoresSizeable proportionFTNDCigarettesHousehold sampleSignificant indirect effect
2015
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
Schwantes-An TH, Zhang J, Chen LS, Hartz SM, Culverhouse RC, Chen X, Coon H, Frank J, Kamens HM, Konte B, Kovanen L, Latvala A, Legrand LN, Maher BS, Melroy WE, Nelson EC, Reid MW, Robinson JD, Shen PH, Yang BZ, Andrews JA, Aveyard P, Beltcheva O, Brown SA, Cannon DS, Cichon S, Corley RP, Dahmen N, Degenhardt L, Foroud T, Gaebel W, Giegling I, Glatt SJ, Grucza RA, Hardin J, Hartmann AM, Heath AC, Herms S, Hodgkinson CA, Hoffmann P, Hops H, Huizinga D, Ising M, Johnson EO, Johnstone E, Kaneva RP, Kendler KS, Kiefer F, Kranzler HR, Krauter KS, Levran O, Lucae S, Lynskey MT, Maier W, Mann K, Martin NG, Mattheisen M, Montgomery GW, Müller-Myhsok B, Murphy MF, Neale MC, Nikolov MA, Nishita D, Nöthen MM, Nurnberger J, Partonen T, Pergadia ML, Reynolds M, Ridinger M, Rose RJ, Rouvinen-Lagerström N, Scherbaum N, Schmäl C, Soyka M, Stallings MC, Steffens M, Treutlein J, Tsuang M, Wall TL, Wodarz N, Yuferov V, Zill P, Bergen AW, Chen J, Cinciripini PM, Edenberg HJ, Ehringer MA, Ferrell RE, Gelernter J, Goldman D, Hewitt JK, Hopfer CJ, Iacono WG, Kaprio J, Kreek MJ, Kremensky IM, Madden PA, McGue M, Munafò MR, Philibert RA, Rietschel M, Roy A, Rujescu D, Saarikoski ST, Swan GE, Todorov AA, Vanyukov MM, Weiss RB, Bierut LJ, Saccone NL. Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts. Behavior Genetics 2015, 46: 151-169. PMID: 26392368, PMCID: PMC4752855, DOI: 10.1007/s10519-015-9737-3.Peer-Reviewed Original ResearchConceptsSubstance dependenceModest protective effectDSM-IV alcoholOpioid receptor geneLight smokingProtective effectNicotine dependenceAddiction liabilityDifferent addictive substancesG alleleMeta-AnalysisCocaine dependenceRs1799971Addictive substancesHuman genetic studiesReceptor genePotential functional significanceEuropean ancestry cohortsOPRM1Substance dependence riskSimilar effectsEuropean ancestry subjectsFunctional significanceAddictive behaviorsRisk
2011
Variation in Genes Encoding the Neuroactive Steroid Synthetic Enzymes 5α‐Reductase Type 1 and 3α‐Reductase Type 2 Is Associated With Alcohol Dependence
Milivojevic V, Kranzler HR, Gelernter J, Burian L, Covault J. Variation in Genes Encoding the Neuroactive Steroid Synthetic Enzymes 5α‐Reductase Type 1 and 3α‐Reductase Type 2 Is Associated With Alcohol Dependence. Alcohol Clinical And Experimental Research 2011, 35: 946-952. PMID: 21323680, PMCID: PMC3083475, DOI: 10.1111/j.1530-0277.2010.01425.x.Peer-Reviewed Original ResearchMeSH Keywords3-Hydroxysteroid Dehydrogenases3-Oxo-5-alpha-Steroid 4-DehydrogenaseAdultAlcoholismAldo-Keto Reductase Family 1 Member C3Base SequenceCase-Control StudiesFemaleGenetic VariationHumansHydroxyprostaglandin DehydrogenasesMaleMembrane ProteinsMiddle AgedMolecular Sequence DataPolymorphism, Single NucleotideYoung AdultConceptsEndogenous neuroactive steroidsNeuroactive steroidsAlcohol dependenceAlcohol effectsType 2Minor alleleNon-Hispanic CaucasiansRatio of dihydrotestosteroneBladder cancerG alleleC alleleSteroid biosynthetic enzymesType 1Important mediatorKey mediatorSteroidsSingle nucleotide polymorphismsCase-control sampleHuman brainType IMarkersBiological phenotypesNucleotide polymorphismsIndirect evidenceMediators
2010
Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region
Zhang H, Gelernter J, Gruen JR, Kranzler HR, Herman AI, Simen AA. Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region. Journal Of Human Genetics 2010, 55: 278-284. PMID: 20300121, PMCID: PMC2876206, DOI: 10.1038/jhg.2010.22.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCell LineElectrophoretic Mobility Shift AssayGene Expression RegulationHumansLuciferasesNuclear ProteinsOligonucleotide ProbesPolymorphism, Single NucleotidePromoter Regions, GeneticProtein BindingReceptors, Opioid, deltaRecombinant Fusion ProteinsTranscription FactorsTransfectionConceptsMinor G alleleG alleleΔ-opioid receptorsSubstances of abuseDual-luciferase reporterOpioid dependenceBrain nuclear proteinsGreater expression levelsA alleleLuciferase reporterRenilla luciferase vectorsSingle nucleotide polymorphismsLuciferase reporter vectorExpression levelsPromoter regionHEK293 cellsLuciferase vectorFunctional impactLuciferase expressionFunctional significanceExpressionRenilla luciferase expressionReporter vectorTranscription factors
2007
The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk
Zhang H, Kranzler HR, Yang BZ, Luo X, Gelernter J. The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Molecular Psychiatry 2007, 13: 531-543. PMID: 17622222, PMCID: PMC3163084, DOI: 10.1038/sj.mp.4002035.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlcoholismCase-Control StudiesCocaine-Related DisordersEuropeExonsFemaleGenetic Predisposition to DiseaseHaplotypesHeroin DependenceHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideReceptors, Opioid, deltaReceptors, Opioid, kappaRiskSubstance-Related DisordersUnited StatesConceptsLogistic regression analysisSingle nucleotide polymorphismsRegression analysisTag single nucleotide polymorphismsOPRD1 variantsG alleleC alleleDrug dependenceSignificant associationRisk effectsEuropean AmericansStratification artifactSignificant differencesPositive associationHaplotypic associationsMultiple testingAssociationOPRK1OPRD1Dependence riskSD
2006
Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence
Zhang H, Ozbay F, Lappalainen J, Kranzler HR, van Dyck CH, Charney DS, Price LH, Southwick S, Yang B, Rasmussen A, Gelernter J. Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 141B: 387-393. PMID: 16649215, PMCID: PMC2567822, DOI: 10.1002/ajmg.b.30332.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAlzheimer DiseaseBrain-Derived Neurotrophic FactorChromatography, High Pressure LiquidDNA Mutational AnalysisFemaleGene FrequencyGenotypeHaplotypesHumansLinkage DisequilibriumLogistic ModelsMaleMiddle AgedMood DisordersPolymorphism, Single NucleotideSchizophreniaStress Disorders, Post-TraumaticSubstance-Related DisordersConceptsPosttraumatic stress disorderAffective disordersAlzheimer's diseaseSubstance dependenceGene variantsStress disorderBDNF gene variantsNormal control subjectsLogistic regression analysisAge of subjectsBDNF variantsNeurotrophic factorControl subjectsBDNF geneBDNF SNPsG genotypeEuropean-American subjectsG alleleDrug dependenceNeuropsychiatric disordersModest associationSchizophreniaDiseaseNovel gene variantsDisorders
2000
Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence
Gelernter J, Kranzler H. Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence. Human Genetics 2000, 107: 86-88. PMID: 10982041, DOI: 10.1007/s004390000340.Peer-Reviewed Original ResearchConceptsPopulation geneticsProtein sequencesPopulation genetic dataAmino acid sequenceNovel variantsΔ locusAcid sequenceGenetic dataReceptor locusExon 1LociReceptor geneOpioid receptor geneCommon variantsEuropean populationsAllele frequenciesGeneticsVariant detectionSequenceAllelesOpioid dependenceVariantsPhysiologic effectsG alleleSubstance dependence