2002
Dopamine Beta‐Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study
Yamamoto K, Cubells JF, Gelernter J, Benkelfat C, Lalonde P, Bloom D, Lal S, Labelle A, Turecki G, Rouleau GA, Joober R. Dopamine Beta‐Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2002, 117B: 33-38. PMID: 12555232, DOI: 10.1002/ajmg.b.10011.Peer-Reviewed Original ResearchConceptsTherapeutic responseDopamine beta-hydroxylase (DBH) geneMean total BPRS scoreBeta-hydroxylase geneGroup of patientsTotal BPRS scoreLow DBH activityNR patientsBPRS scoresNeuroleptic drugsHealthy volunteersPsychotic symptomsSchizophrenic patientsDBH activitySymptom profilesPositive linkage disequilibriumPatientsCocaine-induced paranoiaCausative factorsPhenotypic variabilitySchizophreniaGenetic association studiesGenotype differencesPolymorphismDBH gene
2001
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms