2022
ABCB1 variants and sex affect serotonin transporter occupancy in the brain
Silberbauer LR, Rischka L, Vraka C, Hartmann AM, Godbersen GM, Philippe C, Pacher D, Nics L, Klöbl M, Unterholzner J, Stimpfl T, Wadsak W, Hahn A, Hacker M, Rujescu D, Kasper S, Lanzenberger R, Gryglewski G. ABCB1 variants and sex affect serotonin transporter occupancy in the brain. Molecular Psychiatry 2022, 27: 4502-4509. PMID: 36071112, PMCID: PMC7613909, DOI: 10.1038/s41380-022-01733-1.Peer-Reviewed Original ResearchConceptsMinor allele carriersTransporter occupancyAllele carriersABCB1 single nucleotide polymorphismsBasic clinical variablesCitalopram plasma concentrationsYears of ageMajor allele homozygotesCross-over designPET/MRISERT occupancyClinical variablesTreatment promisesClinical algorithmMajor depressionPlasma concentrationsPrecision pharmacotherapyABCB1 variantsHealthy volunteersABCB1 geneAllele homozygotesSame dosageDrug-target engagementTarget engagementSingle nucleotide polymorphisms
2019
Epistasis of HTR1A and BDNF risk genes alters cortical 5-HT1A receptor binding: PET results link genotype to molecular phenotype in depression
Kautzky A, James GM, Philippe C, Baldinger-Melich P, Kraus C, Kranz GS, Vanicek T, Gryglewski G, Hartmann AM, Hahn A, Wadsak W, Mitterhauser M, Rujescu D, Kasper S, Lanzenberger R. Epistasis of HTR1A and BDNF risk genes alters cortical 5-HT1A receptor binding: PET results link genotype to molecular phenotype in depression. Translational Psychiatry 2019, 9: 5. PMID: 30664620, PMCID: PMC6341100, DOI: 10.1038/s41398-018-0308-2.Peer-Reviewed Original ResearchConceptsBrain-derived neurotrophic factor (BDNF) geneAffective disordersReceptor bindingSingle nucleotide polymorphismsPhenotype of depressionNeurotrophic factor geneSerotonin 1A receptor geneFunctional single nucleotide polymorphismsReceptor profileHealthy subjectsPET resultsRisk genotypesRs6265Multifactorial riskCortical regionsMixed modelsRisk allelesRs6295DisordersCortical surfaceReceptor geneReceptorsMolecular phenotypesHTR1ADepression
2015
Effects of norepinephrine transporter gene variants on NET binding in ADHD and healthy controls investigated by PET
Sigurdardottir HL, Kranz GS, Rami‐Mark C, James GM, Vanicek T, Gryglewski G, Kautzky A, Hienert M, Traub‐Weidinger T, Mitterhauser M, Wadsak W, Hacker M, Rujescu D, Kasper S, Lanzenberger R. Effects of norepinephrine transporter gene variants on NET binding in ADHD and healthy controls investigated by PET. Human Brain Mapping 2015, 37: 884-895. PMID: 26678348, PMCID: PMC4949568, DOI: 10.1002/hbm.23071.Peer-Reviewed Original ResearchMeSH KeywordsAdultAttention Deficit Disorder with HyperactivityBrainBrain MappingCohort StudiesFemaleGenotyping TechniquesHumansLinkage DisequilibriumMaleMorpholinesNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Single NucleotidePositron-Emission TomographyPromoter Regions, GeneticRadiopharmaceuticalsSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationConceptsAttention deficit hyperactivity disorderPositron emission tomographyHealthy controlsNorepinephrine transporterSingle nucleotide polymorphismsAllele carriersMajor alleleFunctional promoter single nucleotide polymorphismsMajor allele carriersMinor allele carriersPromoter single nucleotide polymorphismsNET geneSymptoms of hyperactivityTransporter gene variantsLinear mixed model analysisDeficit hyperactivity disorderAdult patientsGenotype-dependent differencesADHD treatmentMixed model analysisMALDI-TOF platformADHD patientsStrong genetic componentEmission tomographyBPND