2014
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysis
2013
Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence
Xie P, Kranzler HR, Krystal JH, Farrer LA, Zhao H, Gelernter J. Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence. Addiction Biology 2013, 19: 955-964. PMID: 23855403, PMCID: PMC3815683, DOI: 10.1111/adb.12072.Peer-Reviewed Original ResearchConceptsOpioid dependenceSubstance dependenceRare variantsN-methyl-D-aspartate (NMDA) glutamate receptorsCo-occurring alcohol dependenceHealthy control subjectsControl subjectsNMDA systemOpioid abuseGlutamate receptorsSchizophrenia risk genesSD riskAlcohol dependenceSignificant associationCocaine dependenceAdditional subjectsOD riskRisk genesDISC1African AmericansFirst demonstrationCommon variantsRiskSubjectsMinor allele frequencyProfiling of Childhood Adversity-Associated DNA Methylation Changes in Alcoholic Patients and Healthy Controls
Zhang H, Wang F, Kranzler HR, Zhao H, Gelernter J. Profiling of Childhood Adversity-Associated DNA Methylation Changes in Alcoholic Patients and Healthy Controls. PLOS ONE 2013, 8: e65648. PMID: 23799031, PMCID: PMC3683055, DOI: 10.1371/journal.pone.0065648.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlcoholismAldehyde DehydrogenaseAldehyde Dehydrogenase 1 FamilyBlack or African AmericanCase-Control StudiesChild AbuseCpG IslandsDNA MethylationEpigenesis, GeneticFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedNerve Tissue ProteinsNociceptin ReceptorPolymorphism, Single NucleotidePromoter Regions, GeneticReceptors, NicotinicReceptors, OpioidRetinal DehydrogenaseRGS ProteinsSequence Analysis, DNATranscription, GeneticWhite PeopleYoung AdultConceptsHealthy controlsAD patientsChildhood adversityDNA methylation changesIllumina GoldenGate methylation arrayPeripheral blood DNA methylation levelsBlood DNA methylation levelsAlcoholic patientsControl subjectsLinear regression analysisMethylation changesPatientsMethylation levelsPromoter regionEA casesBonferroni correctionRegression analysisP-valueAfrican AmericansOverall methylation levels
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 controlsSexBiases and Errors on Allele Frequency Estimation and Disease Association Tests of Next‐Generation Sequencing of Pooled Samples
Chen X, Listman JB, Slack FJ, Gelernter J, Zhao H. Biases and Errors on Allele Frequency Estimation and Disease Association Tests of Next‐Generation Sequencing of Pooled Samples. Genetic Epidemiology 2012, 36: 549-560. PMID: 22674656, PMCID: PMC3477622, DOI: 10.1002/gepi.21648.Peer-Reviewed Original Research
2009
Cognitive Flexibility is Associated with KIBRA Variant and Modulated by Recent Tobacco Use
Zhang H, Kranzler HR, Poling J, Gruen JR, Gelernter J. Cognitive Flexibility is Associated with KIBRA Variant and Modulated by Recent Tobacco Use. Neuropsychopharmacology 2009, 34: 2508-2516. PMID: 19606085, PMCID: PMC2898508, DOI: 10.1038/npp.2009.80.Peer-Reviewed Original ResearchConceptsCognitive flexibilityPerseverative errorsPerseverative responsesWisconsin Card Sorting TestMemory performance measuresCard Sorting TestSorting TestRs17070145Main effectInteraction effectsEuropean AmericansRecencyPopulation-specific wayRecent tobacco usePerformance measuresTobacco useSynaptic plasticityModeratesKIBRAAfrican AmericansSmokersFlexibility
2008
Interaction between Two Independent CNR1 Variants Increases Risk for Cocaine Dependence in European Americans: A Replication Study in Family-Based Sample and Population-Based Sample
Zuo L, Kranzler HR, Luo X, Yang BZ, Weiss R, Brady K, Poling J, Farrer L, Gelernter J. Interaction between Two Independent CNR1 Variants Increases Risk for Cocaine Dependence in European Americans: A Replication Study in Family-Based Sample and Population-Based Sample. Neuropsychopharmacology 2008, 34: 1504-1513. PMID: 19052543, PMCID: PMC2879626, DOI: 10.1038/npp.2008.206.Peer-Reviewed Original ResearchBlack or African AmericanCase-Control StudiesCluster AnalysisCocaineCocaine-Related DisordersFamilyGenetic Predisposition to DiseaseHaplotypesHumansLinkage DisequilibriumParanoid DisordersPolymorphism, Single NucleotideReceptor, Cannabinoid, CB1Regression AnalysisSequence Analysis, DNAUnited StatesWhite PeopleRole of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder
Shah MP, Wang F, Kalmar JH, Chepenik LG, Tie K, Pittman B, Jones MM, Constable RT, Gelernter J, Blumberg HP. Role of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder. Neuropsychopharmacology 2008, 34: 1301-1310. PMID: 19037205, PMCID: PMC2826628, DOI: 10.1038/npp.2008.204.Peer-Reviewed Original ResearchConceptsVentral anterior cingulate cortexBipolar disorderFeatures of BDS carriersAnterior cingulate cortexVentral anterior cingulateEvent-related functional magnetic resonanceFunctional magnetic resonanceTransporter promoter polymorphismSerotonergic systemBD subgroupsHealthy comparison participantsBD groupVACC activationHC groupPromoter polymorphismFuture treatmentHealthy individualsAnterior cingulateCingulate cortexNeural systemsFunctional connectivityDysfunctionSerotonin transporter protein geneAmygdala activationEffects of the Brain-Derived Neurotrophic Growth Factor Val66Met Variation on Hippocampus Morphology in Bipolar Disorder
Chepenik LG, Fredericks C, Papademetris X, Spencer L, Lacadie C, Wang F, Pittman B, Duncan JS, Staib LH, Duman RS, Gelernter J, Blumberg HP. Effects of the Brain-Derived Neurotrophic Growth Factor Val66Met Variation on Hippocampus Morphology in Bipolar Disorder. Neuropsychopharmacology 2008, 34: 944-951. PMID: 18704093, PMCID: PMC2837582, DOI: 10.1038/npp.2008.107.Peer-Reviewed Original ResearchConceptsSmaller hippocampus volumesHippocampus volumeBipolar disorderBDNF genotypeBD diagnosisMood disorder pathophysiologyBDNF Val66Met polymorphismHigh-resolution magnetic resonanceHealthy comparison subjectsVal/Val homozygotesEffect of diagnosisLinear mixed model analysisVal66Met polymorphismGrowth factor proteinBD subgroupsDisorder pathophysiologyHC subjectsHippocampal developmentComparison subjectsMixed model analysisHippocampus structureBDNFHippocampus morphologyAnterior hippocampusVal homozygotes
2007
Sequence 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 1
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 3Population