2004
NOTCH4 gene haplotype is associated with schizophrenia in African Americans
Luo X, Klempan TA, Lappalainen J, Rosenheck RA, Charney DS, Erdos J, van Kammen DP, Kranzler HR, Kennedy JL, Gelernter J. NOTCH4 gene haplotype is associated with schizophrenia in African Americans. Biological Psychiatry 2004, 55: 112-117. PMID: 14732589, DOI: 10.1016/s0006-3223(03)00588-2.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBlack or African AmericanChi-Square DistributionCysteineDiagnostic and Statistical Manual of Mental DisordersFemaleGene FrequencyGenotypeGlycineHaplotypesHumansLinkage DisequilibriumMalePolymerase Chain ReactionPolymorphism, Single NucleotideProto-Oncogene ProteinsReceptor, Notch4Receptors, Cell SurfaceReceptors, NotchSchizophreniaThreonineConceptsHealthy control subjectsControl subjectsSingle nucleotide polymorphismsExact testSchizophrenia patientsAfrican AmericansFisher's exact testNOTCH4 locusChi-square testComparison of alleleEuropean-American subjectsPositive linkage disequilibriumAA subjectsPatientsSchizophreniaSpecific markersHaplotype frequenciesT associatesLinkage disequilibriumEA subjectsNOTCH4 geneSubjectsGene haplotypesAmerican subjectsNucleotide polymorphisms
2003
CALCYON gene variation, schizophrenia, and cocaine dependence
Luo X, Kranzler H, Lappalainen J, Rosenheck R, Charney D, Zuo L, Erdos J, van Kammen DP, Gelernter J. CALCYON gene variation, schizophrenia, and cocaine dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2003, 125B: 25-30. PMID: 14755439, DOI: 10.1002/ajmg.b.20092.Peer-Reviewed Original ResearchConceptsCocaine dependenceSingle nucleotide polymorphismsExact testEA subjectsFisher's exact testSubstance use disordersCalcyon geneDopamine receptor-interacting proteinsComparison of alleleUse disordersEuropean-American subjectsControl groupAA subjectsSchizophreniaReceptor-interacting proteinHaplotype frequenciesPotential roleSpecific polymorphismsMotor controlGene variationSame haplotype blockGenetic variantsSubjectsNucleotide polymorphismsLinkage disequilibrium
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
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