2018
Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2
Smith AH, Ovesen PL, Skeldal S, Yeo S, Jensen KP, Olsen D, Diazgranados N, Zhao H, Farrer LA, Goldman D, Glerup S, Kranzler HR, Nykjær A, Gelernter J. Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2. Alcohol Clinical And Experimental Research 2018, 42: 2337-2348. PMID: 30252935, PMCID: PMC6317871, DOI: 10.1111/acer.13890.Peer-Reviewed Original ResearchConceptsAlcohol withdrawalEpigenomic data setsGenome-wide association studiesWide significant findingsLife-threatening seizuresAlcohol withdrawal symptomsTop association signalsTissue-specific activityNeural lineage cellsGenetic risk factorsHarmful alcohol useAssociation signalsRegulatory elementsBioinformatics analysisStress hormone levelsAlcohol cessationChromosome 4Neurotrophic factorWithdrawal symptomsRisk factorsEthanol exposureHormone levelsAssociation studiesNervous systemAdditional genotyping
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
2009
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity
Hirunsatit R, George ED, Lipska BK, Elwafi HM, Sander L, Yrigollen CM, Gelernter J, Grigorenko EL, Lappalainen J, Mane S, Nairn AC, Kleinman JE, Simen AA. Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Pharmacogenetics And Genomics 2009, 19: 53-65. PMID: 19077666, PMCID: PMC2791799, DOI: 10.1097/fpc.0b013e328318b21a.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAnimalsBase SequenceBlack or African AmericanCase-Control StudiesCell LineDNA PrimersEnhancer Elements, GeneticFemaleGABA Plasma Membrane Transport ProteinsGene ExpressionHippocampusHumansMaleMiceMiddle AgedMinisatellite RepeatsMolecular Sequence DataMutagenesis, InsertionalPharmacogeneticsPolymorphism, GeneticPromoter Regions, GeneticRecombinant ProteinsRNA, MessengerSchizophreniaSequence Homology, Nucleic AcidTranscriptional ActivationYoung Adult