2017
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Do C, Shearer A, Suzuki M, Terry MB, Gelernter J, Greally JM, Tycko B. Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era. Genome Biology 2017, 18: 120. PMID: 28629478, PMCID: PMC5477265, DOI: 10.1186/s13059-017-1250-y.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociCCCTC-binding factorEpigenome-wide association studiesGenetic-epigenetic interactionsAllele-specific DNA methylationSequence variantsPost-GWAS eraQuantitative trait lociRegulatory sequence variantsGWAS signalsTrait lociDNA methylationTranscription factorsTranscriptional pathwaysAssociation studiesNon-genetic effectsStudy eraMajor focusMethylationLociVariantsCommon diseaseSitesNeuropsychiatric disordersPathway
2015
Dissecting ancestry genomic background in substance dependence genome-wide association studies
Polimanti R, Yang C, Zhao H, Gelernter J. Dissecting ancestry genomic background in substance dependence genome-wide association studies. Pharmacogenomics 2015, 16: 1487-1498. PMID: 26267224, PMCID: PMC4632979, DOI: 10.2217/pgs.15.91.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAlgorithmsAllelesBlack or African AmericanGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMolecular Sequence AnnotationOpioid-Related DisordersSubstance-Related DisordersTobacco Use DisorderWhite PeopleConceptsGenome-wide association studiesGenomic backgroundFunctional allelesAssociation studiesCommon functional allelesWide association studyLocal haplotype structureGenetic lociSD traitHaplotype structureRelevant genesGenesLociInteractive partnersPopulation diversityHigh frequency differencesAllelesFrequency differenceGenomeTraitsDiversityRoleVariants
2012
Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index
Wang F, Gelernter J, Kranzler HR, Zhang H. Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index. PLOS ONE 2012, 7: e45300. PMID: 23028917, PMCID: PMC3444488, DOI: 10.1371/journal.pone.0045300.Peer-Reviewed Original ResearchConceptsBody mass indexSubstance dependenceMass indexExact testRare variantsAfrican AmericansNormal weight groupCommon variantsFisher's exact testProopiomelanocortin geneObese groupObese subjectsExonic variantsMelanocortin peptidesEuropean AmericansLogistic regressionCommon polymorphismsOverweightRare exonic variantsVariants AssociatedPopulation-specific mannerRiskAssociationObesityGroupVariation in regulator of G-protein signaling 17 gene (RGS17) is associated with multiple substance dependence diagnoses
Zhang H, Wang F, Kranzler HR, Anton RF, Gelernter J. Variation in regulator of G-protein signaling 17 gene (RGS17) is associated with multiple substance dependence diagnoses. Behavioral And Brain Functions 2012, 8: 23. PMID: 22591552, PMCID: PMC3406967, DOI: 10.1186/1744-9081-8-23.Peer-Reviewed Original ResearchAdultAlcoholismBlack or African AmericanCocaine-Related DisordersFemaleGenetic VariationHaplotypesHumansLinkage DisequilibriumMaleMarijuana AbuseMiddle AgedOpioid-Related DisordersPolymorphism, Single NucleotideRGS ProteinsRisk FactorsSignal TransductionSubstance-Related DisordersUnited StatesWhite PeopleANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior.
Chen XD, Xiong DH, Yang TL, Pei YF, Guo YF, Li J, Yang F, Pan F, Tan LJ, Yan H, Liu XG, Lei SF, Li X, Ning LL, Zhu XZ, Levy S, Kranzler HR, Farrer LA, Gelernter J, Recker RR, Deng HW. ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior. Chinese Medical Journal 2012, 125: 1127-34. PMID: 22613542, PMCID: PMC4174677.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAlcohol-related phenotypesAssociation studiesUnrelated Caucasian subjectsGenome-wide significance levelAffymetrix 500K SNP arrayK SNP arrayNovel risk genesCaucasian nuclear familiesGWAS technologySuggestive statistical evidenceSNP arrayANKRD7GenesRisk genesSusceptibility genesUnrelated Chinese HansSusceptibility allelesCertain haplotypesComplex disorderReplication sampleEnvironmental factorsUnrelated CaucasiansPhenotypeChinese Han
2011
A CRHR1 haplotype moderates the effect of adverse childhood experiences on lifetime risk of major depressive episode in African‐American women
Kranzler HR, Feinn R, Nelson EC, Covault J, Anton RF, Farrer L, Gelernter J. A CRHR1 haplotype moderates the effect of adverse childhood experiences on lifetime risk of major depressive episode in African‐American women. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2011, 156: 960-968. PMID: 21998007, PMCID: PMC3227028, DOI: 10.1002/ajmg.b.31243.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAlcohol DrinkingBlack or African AmericanChildChild AbuseDepressionDepressive Disorder, MajorFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHumansMiddle AgedPolymorphism, Single NucleotideReceptors, Corticotropin-Releasing HormoneStress, PsychologicalSubstance-Related DisordersConceptsMajor depressive episodeAdverse childhood experiencesRisk of depressionTAT haplotypeAlcohol dependenceDepressive episodeLifetime riskAA womenCorticotropin-releasing hormone type 1 receptorOdds of MDERisk of MDELifetime substance use disorderType 1 receptorSubstance use disordersAfrican AmericansAfrican American womenChildhood experiencesDepression riskThree-SNP haplotypeAD riskUse disordersAdult depressionAlcohol consumptionCRHR1 haplotypeCRHR1GABRG1 and GABRA2 Variation Associated with Alcohol Dependence in African Americans
Ittiwut C, Yang B, Kranzler HR, Anton RF, Hirunsatit R, Weiss RD, Covault J, Farrer LA, Gelernter J. GABRG1 and GABRA2 Variation Associated with Alcohol Dependence in African Americans. Alcohol Clinical And Experimental Research 2011, 36: 588-593. PMID: 21919924, PMCID: PMC3250564, DOI: 10.1111/j.1530-0277.2011.01637.x.Peer-Reviewed Original ResearchVariation in NGFB is associated with primary affective disorders in women
Cui D, Zhang H, Yang B, Listman JB, Li D, Price LH, Carpenter LL, Tyrka AR, Anton RF, Kranzler HR, Gelernter J. Variation in NGFB is associated with primary affective disorders in women. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2011, 156: 401-412. PMID: 21294249, PMCID: PMC3108453, DOI: 10.1002/ajmg.b.31175.Peer-Reviewed Original Research
2010
A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Is Associated with Increased Risk for Selective Mutism and Social Anxiety-Related Traits
Stein MB, Yang BZ, Chavira DA, Hitchcock CA, Sung SC, Shipon-Blum E, Gelernter J. A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Is Associated with Increased Risk for Selective Mutism and Social Anxiety-Related Traits. Biological Psychiatry 2010, 69: 825-831. PMID: 21193173, PMCID: PMC3079072, DOI: 10.1016/j.biopsych.2010.11.008.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAllelesChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenotypeHaplotypesHumansLinear ModelsMaleMembrane ProteinsMutismNerve Tissue ProteinsOdds RatioPhobic DisordersPolymorphism, Single NucleotidePsychiatric Status Rating ScalesSelf ReportSurveys and QuestionnairesADH1A variation predisposes to personality traits and substance dependence
Zuo L, Gelernter J, Kranzler HR, Stein MB, Zhang H, Wei F, Sen S, Poling J, Luo X. ADH1A variation predisposes to personality traits and substance dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2010, 153B: 376-386. PMID: 19526455, PMCID: PMC2861415, DOI: 10.1002/ajmg.b.30990.Peer-Reviewed Original Research
2009
Association study of DTNBP1 with schizophrenia in a US sample
Zuo L, Luo X, Kranzler HR, Lu L, Rosenheck RA, Cramer J, van Kammen DP, Erdos J, Charney DS, Krystal J, Gelernter J. Association study of DTNBP1 with schizophrenia in a US sample. Psychiatric Genetics 2009, 19: 292-304. PMID: 19862852, PMCID: PMC2771321, DOI: 10.1097/ypg.0b013e32832a50bc.Peer-Reviewed Original ResearchThe efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation
Zuo L, Luo X, Krystal JH, Cramer J, Charney DS, Gelernter J. The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation. Pharmacogenetics And Genomics 2009, 19: 437-446. PMID: 19369910, PMCID: PMC2857717, DOI: 10.1097/fpc.0b013e32832b9cfc.Peer-Reviewed Original ResearchAssociation of Variants in MANEA With Cocaine-Related Behaviors
Farrer LA, Kranzler HR, Yu Y, Weiss RD, Brady KT, Anton R, Cubells JF, Gelernter J. Association of Variants in MANEA With Cocaine-Related Behaviors. JAMA Psychiatry 2009, 66: 267-274. PMID: 19255376, PMCID: PMC2758158, DOI: 10.1001/archgenpsychiatry.2008.538.Peer-Reviewed Original Research
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 PeopleHaplotypic Variants in DRD2, ANKK1, TTC12, and NCAM1 are Associated With Comorbid Alcohol and Drug Dependence
Yang B, Kranzler HR, Zhao H, Gruen JR, Luo X, Gelernter J. Haplotypic Variants in DRD2, ANKK1, TTC12, and NCAM1 are Associated With Comorbid Alcohol and Drug Dependence. Alcohol Clinical And Experimental Research 2008, 32: 2117-2127. PMID: 18828801, PMCID: PMC2975565, DOI: 10.1111/j.1530-0277.2008.00800.x.Peer-Reviewed Original ResearchAddictions Biology: Haplotype-Based Analysis for 130 Candidate Genes on a Single Array
Hodgkinson CA, Yuan Q, Xu K, Shen PH, Heinz E, Lobos EA, Binder EB, Cubells J, Ehlers CL, Gelernter J, Mann J, Riley B, Roy A, Tabakoff B, Todd RD, Zhou Z, Goldman D. Addictions Biology: Haplotype-Based Analysis for 130 Candidate Genes on a Single Array. Alcohol And Alcoholism 2008, 43: 505-515. PMID: 18477577, PMCID: PMC2724863, DOI: 10.1093/alcalc/agn032.Peer-Reviewed Original ResearchConceptsWhole-genome arraysCandidate genesHigh-quality SNPsGene of interestAncestry informative markersCase/control populationInformative markersHigh-throughput assaysAverage call rateComparison of haplotypesCall rateFull haplotype informationHaplotype-based analysisHaplotype coverageHaplotype informationGenesThroughput assaysSNPsDNA qualityTag SNPsHaplotypesReplication rateSignificant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers
Nussbaum J, Xu Q, Payne TJ, Z. J, Huang W, Gelernter J, Li MD. Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers. Human Molecular Genetics 2008, 17: 1569-1577. PMID: 18270208, PMCID: PMC2902291, DOI: 10.1093/hmg/ddn044.Peer-Reviewed Original Research
2007
Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4
Ittiwut C, Listman J, Mutirangura A, Malison R, Covault J, Kranzler HR, Sughondhabirom A, Thavichachart N, Gelernter J. Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4. Genomics 2007, 91: 61-69. PMID: 17976953, PMCID: PMC2709929, DOI: 10.1016/j.ygeno.2007.08.007.Peer-Reviewed Original ResearchConceptsLinkage disequilibrium patternsDisequilibrium patternsHuman chromosome 4Intergenic distancesIntergenic regionHaplotype block structureChromosome 4Haplotype structureLD blocksFunctional variantsGamma 1 subunitChromosome 4pHigh LDGABRA2 locusGenetic associationGenesLociDifferent populationsAlpha 2GABRA2KbSubunitsPopulationReported associationsGABRG1Sequence 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 1ADH7 variation modulates extraversion and conscientiousness in substance‐dependent subjects
Luo X, Kranzler HR, Zuo L, Zhang H, Wang S, Gelernter J. ADH7 variation modulates extraversion and conscientiousness in substance‐dependent subjects. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2007, 147B: 179-186. PMID: 17918242, PMCID: PMC3160628, DOI: 10.1002/ajmg.b.30589.Peer-Reviewed Original Research