2007
Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation
Hernandez-Avila CA, Covault J, Wand G, Zhang H, Gelernter J, Kranzler HR. Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation. Pharmacogenetics And Genomics 2007, 17: 1031-1038. PMID: 18004207, DOI: 10.1097/fpc.0b013e3282f0b99c.Peer-Reviewed Original ResearchMeSH KeywordsAdrenocorticotropic HormoneAdultAllelesAmino Acid SubstitutionAsian PeopleDouble-Blind MethodFemaleGenetics, PopulationGenotypeHumansHydrocortisoneHypothalamo-Hypophyseal SystemMaleNaloxonePharmacogeneticsPituitary-Adrenal SystemPolymorphism, Single NucleotideReceptors, Opioid, muWhite PeopleConceptsHPA axis activationCortisol responseAsn40 homozygotesAsn40Asp polymorphismAsp40 alleleSingle nucleotide polymorphism A118GHPA axis responsePlacebo-controlled administrationΜ-opioid receptor geneGreater cortisol responseIntravenous naloxoneOpioid blockadeAxis activationAdrenocorticotropic hormoneA118GHealthy individualsOPRM1 SNPsNaloxoneCortisol concentrationsHormonal responsesEuropean AmericansObserved associationsHealthy participantsWhole bloodReceptor gene
2004
Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1)
Hernandez-Avila CA, Covault J, Gelernter J, Kranzler HR. Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1). Psychiatric Genetics 2004, 14: 89-92. PMID: 15167694, DOI: 10.1097/01.ypg.0000107931.32051.c7.Peer-Reviewed Original ResearchConceptsMu-opioid receptor proteinΜ-opioid receptor geneSubstance-dependent subjectsAsn40Asp polymorphismSubstance dependence diagnosesHealthy subjectsAllelic associationBlood samplesDependence diagnosisDiagnostic InterviewDemographic featuresExtracellular domainFunctional polymorphismsReceptor geneReceptor extracellular domainReceptor proteinAssociationNEO-Five Factor InventorySubjectsAssociation studiesFive-Factor InventoryPolymorphismAsn40AspPersonality factorsDiagnosis
2003
Association between the cortisol response to opioid blockade and the Asn40Asp polymorphism at the μ‐opioid receptor locus (OPRM1)
Hernandez‐Avila C, Wand G, Luo X, Gelernter J, Kranzler HR. Association between the cortisol response to opioid blockade and the Asn40Asp polymorphism at the μ‐opioid receptor locus (OPRM1). American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2003, 118B: 60-65. PMID: 12627468, DOI: 10.1002/ajmg.b.10054.Peer-Reviewed Original ResearchConceptsCortisol responseAsn40 alleleAsn40Asp polymorphismAsp40 alleleCortisol concentrationsCortisol time curveMu-opioid receptor proteinOpioid antagonist naloxoneMin post infusionPeak cortisol responsePlasma ACTH concentrationsEnhanced cortisol responseHigher cortisol concentrationsWarrants further investigationAsp40 variantIntravenous naloxoneOpioid blockadeNaloxone infusionAntagonist naloxonePlasma ACTHACTH concentrationsAgonist effectsPost infusionHealthy subjectsClinical relevance
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