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 analysisGenetic risk prediction and neurobiological understanding of alcoholism
Levey DF, Le-Niculescu H, Frank J, Ayalew M, Jain N, Kirlin B, Learman R, Winiger E, Rodd Z, Shekhar A, Schork N, Kiefe F, Wodarz N, Müller-Myhsok B, Dahmen N, Nöthen M, Sherva R, Farrer L, Smith A, Kranzler H, Rietschel M, Gelernter J, Niculescu A. Genetic risk prediction and neurobiological understanding of alcoholism. Translational Psychiatry 2014, 4: e391-e391. PMID: 24844177, PMCID: PMC4035721, DOI: 10.1038/tp.2014.29.Peer-Reviewed Original ResearchConceptsTop candidate genesCandidate genesGenetic risk predictionGenome-wide association study dataFunctional genomics approachConvergent functional genomics approachAssociation study dataGene expression dataInitial discovery stepGenomic approachesKey genesSignal transductionSignificant genetic overlapTop genesRelevant genesBiological pathwaysExpression dataTop findingsGenesStrict Bonferroni correctionGenetic overlapProtein knockout miceSmall panelFatty acidsKnockout miceNovel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders
Kos MZ, Glahn DC, Carless MA, Olvera R, McKay DR, Quillen EE, Gelernter J, Chen X, Deng H, Kent JW, Dyer TD, Göring HH, Curran JE, Duggirala R, Blangero J, Almasy L. Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 294-302. PMID: 24692236, PMCID: PMC4172449, DOI: 10.1002/ajmg.b.32231.Peer-Reviewed Original ResearchConceptsSan Antonio Family StudyGenome-wide SNPsSignificant SNP associationsSignificant pleiotropic effectsCompelling candidate genesStrong genetic correlationPotential risk locusNovel QTLChromosome 6p22.3Significant QTLGene actionChromosome regionsChromosome 4Heritable phenotypesCandidate genesRisk lociLinkage signalChromosome 6p22QTLSNP associationsLinkage regionGenetic correlationsSusceptibility genesPleiotropic effectsGenesChild Abuse, Depression, and Methylation in Genes Involved With Stress, Neural Plasticity, and Brain Circuitry
Weder N, Zhang H, Jensen K, Yang BZ, Simen A, Jackowski A, Lipschitz D, Douglas-Palumberi H, Ge M, Perepletchikova F, O'Loughlin K, Hudziak JJ, Gelernter J, Kaufman J. Child Abuse, Depression, and Methylation in Genes Involved With Stress, Neural Plasticity, and Brain Circuitry. Journal Of The American Academy Of Child & Adolescent Psychiatry 2014, 53: 417-424.e5. PMID: 24655651, PMCID: PMC4126411, DOI: 10.1016/j.jaac.2013.12.025.Peer-Reviewed Original ResearchConceptsTubulin Polymerization Promoting ProteinCandidate genesEpigenetic changesMethylation sitesGenome-wide methylation studyMultiple methylation sitesK BeadChip arraySaliva-derived DNAEpigenetic mechanismsK BeadChipBeadChip arrayEpigenetic markersStress responseMethylation studiesCpG sitesGenesNeural circuitry developmentMethylationId-3Whole genome testingNeural plasticityGRIN1Genome testingPlasticityGlutamate receptors
2012
Association of COL25A1 with Comorbid Antisocial Personality Disorder and Substance Dependence
Li D, Zhao H, Kranzler HR, Oslin D, Anton RF, Farrer LA, Gelernter J. Association of COL25A1 with Comorbid Antisocial Personality Disorder and Substance Dependence. Biological Psychiatry 2012, 71: 733-740. PMID: 22297151, PMCID: PMC3548659, DOI: 10.1016/j.biopsych.2011.12.011.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsTwo-stage genetic association studyType II transmembrane proteinCase-control cohortAllelic p-valueAlpha 1 geneSame single nucleotide polymorphismIndependent case-control cohortsTransmembrane proteinTranscription factorsSNP mapGenetic association studiesEuropean American casesCandidate genesCOL25A1 geneAssociation studiesGenetic studiesFamily-based cohortChromosome 4q25GenesNucleotide polymorphismsCOL25A1Alzheimer's disease brainLong-term patternsDiscovery stage
2008
Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth
Budel S, Padukkavidana T, Liu BP, Feng Z, Hu F, Johnson S, Lauren J, Park JH, McGee AW, Liao J, Stillman A, Kim JE, Yang BZ, Sodi S, Gelernter J, Zhao H, Hisama F, Arnsten AF, Strittmatter SM. Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth. Journal Of Neuroscience 2008, 28: 13161-13172. PMID: 19052207, PMCID: PMC2892845, DOI: 10.1523/jneurosci.3828-08.2008.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainChick EmbryoChlorocebus aethiopsChromosome MappingCodonCOS CellsFemaleGenetic Predisposition to DiseaseGPI-Linked ProteinsGrowth ConesGrowth InhibitorsHumansMaleMiceMice, KnockoutMutationMyelin ProteinsNerve Fibers, MyelinatedNeurogenesisNeuronal PlasticityNogo Receptor 1Organ Culture TechniquesRatsReceptors, Cell SurfaceSchizophreniaConceptsMyelin inhibitionNogo-66 receptorCase-control analysisMyelin-specific genesAxonal sproutingMyelin signalGenetic predispositionAxon inhibitionNeuronal culturesPossible associationReceptor 1Disease riskAxon growthSchizophreniaAxonal proteinsPotential endophenotypeMemory functionGenetic variantsDysfunctional proteinsInhibitionSchizophrenia susceptibilityDominant negativeProtein exhibitCandidate genesChromosome 22q11Addictions 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 rate
2004
Confirmation and fine mapping of the chromosome 1 alcohol dependence risk locus
Lappalainen J, Kranzler HR, Petrakis I, Somberg LK, Page G, Krystal JH, Gelernter J. Confirmation and fine mapping of the chromosome 1 alcohol dependence risk locus. Molecular Psychiatry 2004, 9: 312-319. PMID: 15094791, DOI: 10.1038/sj.mp.4001429.Peer-Reviewed Original ResearchConceptsTransmission disequilibrium testNovel candidate genesSTR markersTransmission disequilibriumShort tandem repeat markersGenetic linkage studiesFine mappingRepeat markersTandem repeat markersCandidate genesChromosome 1Linkage signalMap intervalSmall nuclear familiesBase pairsGenesLinkage disequilibriumLinkage findingsSusceptibility genesDNA base pairsLinkage studiesSupport intervalBP intervalChromosome 1pDisequilibrium test
2001
Linkage genome scan for loci predisposing to panic disorder or agoraphobia
Gelernter J, Bonvicini K, Page G, Woods S, Goddard A, Kruger S, Pauls D, Goodson S. Linkage genome scan for loci predisposing to panic disorder or agoraphobia. American Journal Of Medical Genetics 2001, 105: 548-557. PMID: 11496373, DOI: 10.1002/ajmg.1496.Peer-Reviewed Original ResearchMeSH KeywordsAgoraphobiaChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 14Chromosomes, Human, Pair 3Chromosomes, Human, Pair 4Family HealthFemaleGenetic Predisposition to DiseaseGenome, HumanHumansLod ScoreMaleMicrosatellite RepeatsPanic DisorderPedigreeConceptsLinkage genome scanGenome scanChromosome 3LOD scoreSuggestive linkagePrevious genome scanComplex traitsGenomic regionsHeritable anxiety disordersGenetic lociMultipoint LOD scoreCandidate genesRisk lociChromosome 1Chromosome 11pSusceptibility lociLociStatistical supportLinkage resultsNPL analysisPotential lociNPL scoreAmerican pedigreesSingle familyPotential linkageHuman GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrain
1995
Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17
Gelernter J, Pakstis AJ, Kidd KK. Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17. Human Genetics 1995, 95: 677-680. PMID: 7789954, DOI: 10.1007/bf00209486.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismTransporter proteinsTransporter protein geneSerotonin transporter protein geneNorepinephrine transporter proteinLinkage mapLinkage mappingProtein geneChromosome 16q21Genetic lociCandidate genesUntranslated regionFragment length polymorphismChromosome 17GenesLinkage resultsSitu hybridizationGene SLC6A4Length polymorphismLinkage studiesPCR productsProximal 17qProteinLogical candidate geneSLC6A4Assignment 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
1993
Mutational analysis of candidate genes in psychiatric disorders
Gejman P, Gelernter J. Mutational analysis of candidate genes in psychiatric disorders. American Journal Of Medical Genetics 1993, 48: 184-191. PMID: 8135301, DOI: 10.1002/ajmg.1320480404.Peer-Reviewed Original ResearchConceptsMutational analysisDNA samplesGradient gel electrophoresis (DGGE) techniqueDNA sequencesNucleotide sequenceSequence variationCandidate genesSequence variantsNew sequence variationsChemical cleavageGel electrophoresis techniqueExistence of variationGenetic hypothesisGenesMolecular screeningMutation screeningAffected individualsSequenceElectrophoresis techniqueMutationsCleavageVariationVariants