2023
Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders
Hatoum A, Colbert S, Johnson E, Huggett S, Deak J, Pathak G, Jennings M, Paul S, Karcher N, Hansen I, Baranger D, Edwards A, Grotzinger A, Tucker-Drob E, Kranzler H, Davis L, Sanchez-Roige S, Polimanti R, Gelernter J, Edenberg H, Bogdan R, Agrawal A. Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nature Mental Health 2023, 1: 210-223. PMID: 37250466, PMCID: PMC10217792, DOI: 10.1038/s44220-023-00034-y.Peer-Reviewed Original ResearchGenome-wide associationGenetic risk lociIndependent single nucleotide polymorphismsProblematic tobacco useSingle nucleotide polymorphismsRisk lociHigh polygenicityLociReceptor geneAddiction risk factorsPolygenic risk scoresEuropean descentPolygenicityGenesSummary statisticsSubstance use disordersSomatic conditionsAncestryRegulationConfersUse disordersPolymorphismGenetic liabilityDopamine regulationPDE4B
2018
Translational studies support a role for serotonin 2B receptor (HTR2B) gene in aggression-related cannabis response
Montalvo-Ortiz JL, Zhou H, D’Andrea I, Maroteaux L, Lori A, Smith A, Ressler KJ, Nuñez YZ, Farrer LA, Zhao H, Kranzler HR, Gelernter J. Translational studies support a role for serotonin 2B receptor (HTR2B) gene in aggression-related cannabis response. Molecular Psychiatry 2018, 23: 2277-2286. PMID: 29875475, PMCID: PMC6281782, DOI: 10.1038/s41380-018-0077-6.Peer-Reviewed Original ResearchConceptsGrady Trauma ProjectAfrican AmericansWild-type miceReceptor geneEffects of cannabisWide significant risk lociResident-intruder paradigmImpulsivity/aggressionConcordant findingsTHC administrationKnockout miceTranslational studiesAA subjectsCannabis useStudy designTrauma ProjectAdverse effectsMiceCannabisAggressive behaviorEuropean AmericansNominal associationAdverse consequencesGenome-wide association study (GWAS) designRisk loci
2017
Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence
Hancock DB, Guo Y, Reginsson GW, Gaddis NC, Lutz SM, Sherva R, Loukola A, Minica CC, Markunas CA, Han Y, Young KA, Gudbjartsson DF, Gu F, McNeil DW, Qaiser B, Glasheen C, Olson S, Landi MT, Madden PAF, Farrer LA, Vink J, Saccone NL, Neale MC, Kranzler HR, McKay J, Hung RJ, Amos CI, Marazita ML, Boomsma DI, Baker TB, Gelernter J, Kaprio J, Caporaso NE, Thorgeirsson TE, Hokanson JE, Bierut LJ, Stefansson K, Johnson EO. Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence. Molecular Psychiatry 2017, 23: 1911-1919. PMID: 28972577, PMCID: PMC5882602, DOI: 10.1038/mp.2017.193.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenotype-Tissue Expression (GTEx) projectDNA methyltransferase genesAcetylcholine receptor genesNicotine dependenceMethyltransferase geneExpression projectCHRNB4 genesHeritable traitAdditional lociProxy phenotypeSequence variantsDNMT3B expressionGenesReceptor geneSquamous cell lung carcinomaCHRNA5-CHRNA3African American ancestryNovel associationsInternational Lung Cancer ConsortiumCell lung carcinomaLociAmerican ancestryAdult cerebellum
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
2013
Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking
Stephens SH, Hartz SM, Hoft NR, Saccone NL, Corley RC, Hewitt JK, Hopfer CJ, Breslau N, Coon H, Chen X, Ducci F, Dueker N, Franceschini N, Frank J, Han Y, Hansel NN, Jiang C, Korhonen T, Lind PA, Liu J, Lyytikäinen L, Michel M, Shaffer JR, Short SE, Sun J, Teumer A, Thompson JR, Vogelzangs N, Vink JM, Wenzlaff A, Wheeler W, Yang B, Aggen SH, Balmforth AJ, Baumeister SE, Beaty TH, Benjamin DJ, Bergen AW, Broms U, Cesarini D, Chatterjee N, Chen J, Cheng Y, Cichon S, Couper D, Cucca F, Dick D, Foroud T, Furberg H, Giegling I, Gillespie NA, Gu F, Hall AS, Hällfors J, Han S, Hartmann AM, Heikkilä K, Hickie IB, Hottenga JJ, Jousilahti P, Kaakinen M, Kähönen M, Koellinger PD, Kittner S, Konte B, Landi M, Laatikainen T, Leppert M, Levy SM, Mathias RA, McNeil DW, Medland SE, Montgomery GW, Murray T, Nauck M, North KE, Paré PD, Pergadia M, Ruczinski I, Salomaa V, Viikari J, Willemsen G, Barnes KC, Boerwinkle E, Boomsma DI, Caporaso N, Edenberg HJ, Francks C, Gelernter J, Grabe HJ, Hops H, Jarvelin M, Johannesson M, Kendler KS, Lehtimäki T, Magnusson PK, Marazita ML, Marchini J, Mitchell BD, Nöthen MM, Penninx BW, Raitakari O, Rietschel M, Rujescu D, Samani NJ, Schwartz AG, Shete S, Spitz M, Swan GE, Völzke H, Veijola J, Wei Q, Amos C, Cannon DS, Grucza R, Hatsukami D, Heath A, Johnson EO, Kaprio J, Madden P, Martin NG, Stevens VL, Weiss RB, Kraft P, Bierut LJ, Ehringer MA. Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking. Genetic Epidemiology 2013, 37: 846-859. PMID: 24186853, PMCID: PMC3947535, DOI: 10.1002/gepi.21760.Peer-Reviewed Original ResearchConceptsGene clusterAssociation signalsEarly smoking behaviourSmoking behaviorCHRNA5/A3/B4 gene clusterNicotinic acetylcholine receptor genesRobust association signalsNeuronal nicotinic acetylcholine receptor geneAcetylcholine receptor genesNicotine dependenceCHRNB4 gene clusterSignificant associationB4 gene clusterDistinct lociLung cancer riskRegular tobacco useAssociation resultsNicotine dependence phenotypesDependence phenotypesReceptor geneCotinine levelsRs1948PhenotypeRegular smokingProtective effectAssociation of Gamma-Aminobutyric Acid A Receptor α2 Gene (GABRA2) with Alcohol Use Disorder
Li D, Sulovari A, Cheng C, Zhao H, Kranzler HR, Gelernter J. Association of Gamma-Aminobutyric Acid A Receptor α2 Gene (GABRA2) with Alcohol Use Disorder. Neuropsychopharmacology 2013, 39: 907-918. PMID: 24136292, PMCID: PMC3924525, DOI: 10.1038/npp.2013.291.Peer-Reviewed Original ResearchConceptsReceptor geneGABA receptor genesGABAA receptor genesCandidate gene association studiesSAGE data setsBonferroni-corrected thresholdGene association studiesSingle nucleotide polymorphismsAssociation studiesGenotype dataStudy of AddictionGamma-aminobutyric acidMammalian brainGenesComplex disorderGABRA2 single nucleotide polymorphismsSubstance dependenceMajor inhibitory neurotransmitterGeneticsInhibitory neurotransmitterVariantsGABA receptorsSignificant associationSubstance abuseMethamphetamine dependence
2012
Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence
Zhang H, Herman AI, Kranzler HR, Anton RF, Simen AA, Gelernter J. Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence. Journal Of Human Genetics 2012, 57: 670-675. PMID: 22914673, PMCID: PMC3481015, DOI: 10.1038/jhg.2012.98.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismCase-Control StudiesCocaine-Related DisordersComorbidityCpG IslandsDNA MethylationFemaleGenetic Predisposition to DiseaseGenetics, PopulationGenome, HumanHumansMaleMarijuana AbuseMiddle AgedMultivariate AnalysisPromoter Regions, GeneticReceptors, Opioid, muRisk FactorsSequence Analysis, DNAWhite PeopleConceptsChildhood adversityOPRM1 promoter regionAD casesΜ-opioid receptor geneSubstance dependence disordersΜ-opioid receptorDays of intoxicationEffects of alcoholEuropean American controlsPromoter methylation levelsPeripheral bloodMethylation levelsDependence disordersAlcohol dependenceMultivariate analysisPromoter regionPromoter hypermethylationReceptor geneIllicit drugsEuropean AmericansMultiple comparisonsBisulfite sequencing analysisOverall methylation levelsAmerican controlsSex
2011
Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males
Xie P, Kranzler HR, Zhang H, Oslin D, Anton RF, Farrer LA, Gelernter J. Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males. Neuropsychopharmacology 2011, 37: 669-676. PMID: 22012472, PMCID: PMC3260970, DOI: 10.1038/npp.2011.240.Peer-Reviewed Original ResearchConceptsChildhood adversityRs16969968 genotypeND riskSex differencesNicotinic acetylcholine receptor genesAcetylcholine receptor genesPotential sex differencesNicotine dependence riskFagerstrom TestNicotine intakeSmoking riskIncrease riskNicotine dependenceRodent modelsReceptor genotypeND scoresEarly life experiencesEuropean AmericansReceptor geneWomenRiskGene × environment effectsMen
2010
Variation in Nicotinic Acetylcholine Receptor Genes is Associated with Multiple Substance Dependence Phenotypes
Sherva R, Kranzler HR, Yu Y, Logue MW, Poling J, Arias AJ, Anton RF, Oslin D, Farrer LA, Gelernter J. Variation in Nicotinic Acetylcholine Receptor Genes is Associated with Multiple Substance Dependence Phenotypes. Neuropsychopharmacology 2010, 35: 1921-1931. PMID: 20485328, PMCID: PMC3055642, DOI: 10.1038/npp.2010.64.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack or African AmericanChromosomes, Human, Pair 15Family HealthFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMaleMiddle AgedPhenotypePolymorphism, Single NucleotideReceptors, NicotinicSubstance-Related DisordersWhite PeopleConceptsGene clusterAssociation studiesNicotinic receptor gene clusterNicotinic acetylcholine receptor genesAcetylcholine receptor genesReceptor gene clusterStrongest association signalSubstance dependence phenotypesAssociation signalsImportance of variationChromosome 15q25.1Opposite risk allelePermutation-based correctionDependence phenotypesReplication setReceptor geneMultiple polymorphismsSNPs
2009
Interaction of Childhood Maltreatment with the Corticotropin-Releasing Hormone Receptor Gene: Effects on Hypothalamic-Pituitary-Adrenal Axis Reactivity
Tyrka AR, Price LH, Gelernter J, Schepker C, Anderson GM, Carpenter LL. Interaction of Childhood Maltreatment with the Corticotropin-Releasing Hormone Receptor Gene: Effects on Hypothalamic-Pituitary-Adrenal Axis Reactivity. Biological Psychiatry 2009, 66: 681-685. PMID: 19596121, PMCID: PMC2881567, DOI: 10.1016/j.biopsych.2009.05.012.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAdult Survivors of Child AbuseCorticotropin-Releasing HormoneDepressionDexamethasoneFemaleGenotypeHumansHydrocortisoneHypothalamo-Hypophyseal SystemLinear ModelsLinkage DisequilibriumMaleMiddle AgedPituitary-Adrenal SystemPolymorphism, GeneticReceptors, Corticotropin-Releasing HormoneStress, PsychologicalSurveys and QuestionnairesYoung AdultConceptsDEX/CRH testAdrenal (HPA) axis reactivityEarly life stressCortisol responseCRH testAxis reactivityDexamethasone/corticotropin-releasing hormone testCorticotropin-releasing hormone testChildhood maltreatmentCRHR1 polymorphismsHormone receptor geneHPA axis activationLife stressReceptor geneElevated cortisol responseDevelopment of moodChildhood Trauma QuestionnaireHormone testAxis activationHypothalamic-PituitaryNon-Hispanic adultsBlood samplesGG genotypeAdult depressionAnxiety disorders
2008
Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers
Arias AJ, Armeli S, Gelernter J, Covault J, Kallio A, Karhuvaara S, Koivisto T, Mäkelä R, Kranzler HR. Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers. Alcohol Clinical And Experimental Research 2008, 32: 1159-1166. PMID: 18537939, PMCID: PMC2950972, DOI: 10.1111/j.1530-0277.2008.00735.x.Peer-Reviewed Original ResearchConceptsOpioid receptor geneSingle nucleotide polymorphismsTherapeutic effectReceptor geneHeavy drinkingOpioid antagonist nalmefenePlacebo-controlled trialKappa-opioid receptorsNaltrexone treatment responseHeavy drinking daysReceptor gene polymorphismsOpioid receptor gene polymorphismsAsn40Asp polymorphismNalmefene treatmentPolymorphic variationAntagonist treatmentMedication responseTreatment responsePharmacogenetic analysisReceptor gene variationDrinking daysNalmefeneGene polymorphismsHeavy drinkersConflicting results
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 gene
2004
Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1)
Hernandez-Avila CA, Covault J, Gelernter J, Kranzler HR. Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1). Psychiatric Genetics 2004, 14: 89-92. PMID: 15167694, DOI: 10.1097/01.ypg.0000107931.32051.c7.Peer-Reviewed Original ResearchConceptsMu-opioid receptor proteinΜ-opioid receptor geneSubstance-dependent subjectsAsn40Asp polymorphismSubstance dependence diagnosesHealthy subjectsAllelic associationBlood samplesDependence diagnosisDiagnostic InterviewDemographic featuresExtracellular domainFunctional polymorphismsReceptor geneReceptor extracellular domainReceptor proteinAssociationNEO-Five Factor InventorySubjectsAssociation studiesFive-Factor InventoryPolymorphismAsn40AspPersonality factorsDiagnosis
2003
A Functional Polymorphism of the μ-Opioid Receptor Gene is Associated with Naltrexone Response in Alcohol-Dependent Patients
Oslin DW, Berrettini W, Kranzler HR, Pettinati H, Gelernter J, Volpicelli JR, O'Brien CP. A Functional Polymorphism of the μ-Opioid Receptor Gene is Associated with Naltrexone Response in Alcohol-Dependent Patients. Neuropsychopharmacology 2003, 28: 1546-1552. PMID: 12813472, DOI: 10.1038/sj.npp.1300219.Peer-Reviewed Original ResearchConceptsΜ-opioid receptorAlcohol-dependent patientsAbstinence ratesPlacebo-controlled clinical trialOverall abstinence ratesΜ-receptor antagonistWeeks of treatmentΜ-opioid receptor geneAlcohol-dependent individualsAsn40 alleleAsp40 alleleProperties of alcoholRelapse rateNaltrexone responseOpioid systemClinical trialsTreatment outcomesNaltrexoneFunctional polymorphismsGenotype groupsPatientsHeavy drinkingDrinking outcomesReceptor geneSpecific polymorphisms
2001
Polymorphism of the 5-HT1B Receptor Gene (HTR1B): Strong Within-Locus Linkage Disequilibrium without Association to Antisocial Substance Dependence
Kranzler HR, Hernandez-Avila CA, Gelernter J. Polymorphism of the 5-HT1B Receptor Gene (HTR1B): Strong Within-Locus Linkage Disequilibrium without Association to Antisocial Substance Dependence. Neuropsychopharmacology 2001, 26: 115-122. PMID: 11751038, DOI: 10.1016/s0893-133x(01)00283-4.Peer-Reviewed Original ResearchConceptsSubstance dependenceAlcohol dependenceAntisocial personality disorderAntisocial alcoholismG861C polymorphismAntisocial diagnosisSouthwestern American IndiansAfrican AmericansAllelic associationSerotonergic abnormalitiesSerotonin receptorsFurther evaluationPersonality disorderLinkage disequilibriumReceptor geneDisordersPopulation groupsEuropean AmericansAssociationHTR1BDiagnosisAlcoholismPresent studyAmerican IndiansFunctional variants
2000
Family‐Based study of DRD2 alleles in alcohol and drug dependence
Blomqvist O, Gelernter J, Kranzler H. Family‐Based study of DRD2 alleles in alcohol and drug dependence. American Journal Of Medical Genetics 2000, 96: 659-664. PMID: 11054774, DOI: 10.1002/1096-8628(20001009)96:5<659::aid-ajmg12>3.0.co;2-g.Peer-Reviewed Original ResearchConceptsCase-control studyDrug dependenceAlcohol dependenceFamily-based studySubstance dependenceRecent family-based studyNumerous case-control studiesDSM-IV criteriaDopamine D2 receptor geneDRD2 allelesPresent studyD2 receptor geneDSM-IIIVariant allelesTransmission disequilibrium testConflicting resultsReceptor geneNegative resultsPositive associationEuropean AmericansTaqI AEuropean ancestryLinkage disequilibriumDisequilibrium testSmall nuclear familiesVariant 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
1998
D2 receptors binding potential is not affected by Taq1 polymorphism at the D2 receptor gene
Laruelle M, Gelernter J, Innis RB. D2 receptors binding potential is not affected by Taq1 polymorphism at the D2 receptor gene. Molecular Psychiatry 1998, 3: 261-265. PMID: 9672902, DOI: 10.1038/sj.mp.4000343.Peer-Reviewed Original ResearchConceptsD2 receptor expressionD2 receptor geneReceptor expressionD2 receptorsA1 alleleLower D2 receptor expressionReceptor geneSubstance abuseB1 alleleLow D2 receptor densityD2 receptor densityD2 receptor radiotracerReceptor-binding potentialSingle photon emissionPostmortem studiesA1 carriersReceptor radiotracerTaq1 polymorphismReceptor densityCaudate nucleusDopamine transmissionPossible associationPhoton emissionAlcoholismReceptors
1995
Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome
Gelernter J, Rao P, Pauls D, Hamblin M, Sibley D, Kidd K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome. Genomics 1995, 26: 207-209. PMID: 7601444, DOI: 10.1016/0888-7543(95)80202-w.Peer-Reviewed Original ResearchConceptsGenetic linkageSomatic cell hybridsInteresting candidate genesPairwise linkage analysisCell hybridsNovel serotonin receptorCandidate genesChromosome 10Linkage analysisSouthern blotGenesExtended pedigreesLOD scoreReceptor geneLociGenetic polymorphismsHTR7PolymorphismReceptorsLIPED computer programDNALinkageHybridizationNeuropsychiatric disordersPedigree