2021
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example
Hatoum AS, Wendt FR, Galimberti M, Polimanti R, Neale B, Kranzler HR, Gelernter J, Edenberg HJ, Agrawal A. Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. Drug And Alcohol Dependence 2021, 229: 109115. PMID: 34710714, PMCID: PMC9358969, DOI: 10.1016/j.drugalcdep.2021.109115.Peer-Reviewed Original ResearchConceptsGenome-wide significant variantsCandidate gene predictionGenetic predictionRandom SNPsPolygenic traitRandom phenotypeCandidate SNPsSimulated phenotypesPsychiatric geneticsGenetic machineSignificant variantsBinary phenotypesCandidate variantsSNPsAncestryPhenotypeAllele frequenciesVariantsMachine learning modelsGenetic testsLearning model
2006
Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia
Malison RT, Kranzler HR, Yang BZ, Gelernter J. Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia. Psychiatric Genetics 2006, 16: 245-249. PMID: 17106427, DOI: 10.1097/01.ypg.0000242198.59020.ca.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsNucleotide polymorphismsCircadian rhythm genesDrosophila melanogasterHuman orthologGenetic variationCocaine-induced paranoiaGenetic mechanismsRhythm genesGene single nucleotide polymorphismsPopulation comparisonsHuman clockLack of associationPotential involvementAllelic associationClinical featuresAllele frequenciesStimulant exposureBehavioral sensitizationLocomotor sensitizationPsychostimulant addictionDrug useClinical phenotypeCocaine dependencePER2 polymorphisms
2000
Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence
Zabetian C, Gelernter J, Cubells J. Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence. American Journal Of Medical Genetics 2000, 96: 638-645. PMID: 11054771, DOI: 10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAryl Hydrocarbon HydroxylasesBase SequenceCytochrome P-450 CYP2A6Cytochrome P-450 Enzyme SystemDNAGene FrequencyGenetic VariationGenetics, PopulationGenotypeHumansMixed Function OxygenasesPolymorphism, GeneticSequence Analysis, DNASequence Homology, Nucleic AcidTobacco Use DisorderConceptsTobacco dependenceMetabolism of nicotineCYP2A6CYP2A6 allelesGenotype resultsNull variantsPopulation studiesLow allele frequenciesRestriction enzyme digestionGenetic association studiesPredominant enzymeFunctional variantsExon 4Future genetic association studiesNew genotyping methodAllele frequenciesEuropean populationsExon 3PopulationVariant 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
1999
Population studies of polymorphisms of the serotonin transporter protein gene
Gelernter J, Cubells JF, Kidd JR, Pakstis AJ, Kidd KK. Population studies of polymorphisms of the serotonin transporter protein gene. American Journal Of Medical Genetics 1999, 88: 61-66. PMID: 10050969, DOI: 10.1002/(sici)1096-8628(19990205)88:1<61::aid-ajmg11>3.0.co;2-k.Peer-Reviewed Original ResearchConceptsAllele frequency variationImportant genetic variationTransporter protein geneSerotonin transporter protein geneProtein lociGenetic variationProtein geneAssociation studiesFunctional significancePopulation stratificationDepression-related phenotypesAllele frequenciesHaplotype frequenciesLociPolymorphismSLC6A4 polymorphismsGenesGlobal variationVNTR polymorphismPhenotypeDisequilibriumPopulationVariationPromoter polymorphismPopulation studies
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