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
2018
Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis
Zhou X, Chen Y, Mok K, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu A, Guo Q, Ip N, Saykin A, Toga A, Borowski B, Ward C, DeCarli C, Mathis C, Jack C, Harvey D, Holtzman D, Jones D, Gessert D, Lilly E, Reiman E, Franklin E, Hefti F, Sorensen G, Jimenez G, Fillit H, Gunter J, Salazar J, Hsiao J, Morris J, Trojanowki J, Neu K, Kantarci K, Faber K, Harless K, Chen K, Nho K, Beckett L, Thal L, Thal L, Shaw L, Kuller L, Shen L, Hergesheimer L, Taylor-Reinwald L, Mesulam M, Korecka M, Raichle M, Carrillo M, Albert M, Senjem M, Bernstein M, Donohue M, Weiner M, Figurski M, Buckholtz N, Fox N, Cairns N, Schuff N, Foster N, Aisen P, Thompson P, Davies P, Snyder P, Snyder P, Vemuri P, Frank R, Koeppe R, Green R, Petersen R, Walter S, Paul S, Potkin S, Kim S, Foroud T, Montine T, Lee V, Jagust W, Potter W, Cabrera Y, Khachaturian Z, Fleisher A, Pierce A, Mintz A, Lerner A, Norbash A, Levey A, Rosen A, Smith A, Ulysse A, Budson A, Kertesz A, Oliver A, Hake A, Burke A, Sarrael A, Porsteinsson A, Lamb A, Lee A, Raj B, Lane B, Yanez B, Ances B, Mudge B, Lind B, Stefanovic B, Goldstein B, Bonakdarpour B, Matthews B, Ott B, Reynolds B, Miller B, Spann B, Sadowsky C, Bernick C, Smith C, Onyike C, Heyn C, Hosein C, Leach C, Belden C, van Dyck C, Clark C, Wu C, Albers C, Brand C, Bodge C, Tatsuoka C, Carlsson C, Mathews D, D’Agostino D, Silverman D, Marson D, Wolk D, Bachman D, Clark D, Geldmacher D, Hart D, Knopman D, Perry D, Winkfield D, Miller D, Kerwin D, Drost D, Simpson D, Munic D, Scharre D, Bartha R, Celmins D, Zimmerman E, Teng E, Coleman E, Zamrini E, Mitsis E, Finger E, Oates E, Sosa E, Woo E, Rogalski E, Fletcher E, Parfitt F, Thai G, Marshall G, Conrad G, Tremont G, Bartzokis G, Hsiung G, Chiang G, Pearlson G, Jicha G, Vanderswag H, Grossman H, Capote H, Bergman H, Chertkow H, Feldman H, Rosen H, Koleva H, Shim H, Rachinsky I, Mintzer J, Ziolkowski J, Brewer J, Lah J, Singleton-Garvin J, Cellar J, Brosch J, Tinklenberg J, Karlawish J, Villanueva-Meyer J, Kaye J, Burns J, Petrella J, Yesavage J, Allard J, Lord J, Hetelle J, Brockington J, Morris J, Olichney J, Rogers J, Quinn J, Kass J, Taylor J, Heidebrink J, Anderson K, Blank K, Smith K, Bell K, Johnson K, Tingus K, DeMarco K, Sink K, Johnson K, Makino K, Spicer K, Nam K, Martin K, Poki-Walker K, Johnson K, Fargher K, Lipowski K, Womack K, Flashman L, Honig L, Apostolova L, Teodoro L, Silbert L, Ravdin L, Schneider L, Daiello L, Ismail M, Seltzer M, Mesulam M, Carroll M, Kataki M, Greig-Custo M, Love M, Mintun M, Farlow M, Sadowski M, Creech M, Hynes M, Quiceno M, Oakley M, Becerra M, Witbracht M, Keltz M, Lamar M, Yang M, Borrie M, Lin M, Assaly M, Rainka M, Dang M, Sheikh M, Gaikwad M, Chowdhury M, Trncic N, Johnson N, Kowalksi N, Pacini N, Kowall N, Graff-Radford N, Relkin N, Oyonumo N, Pomara N, James O, Ogunlana O, Lopez O, Carmichael O, Doraiswamy P, Fatica P, Johnson P, Samuels P, Malloy P, Ogrocki P, Maillard P, Hardy P, Tariot P, Lu P, Varma P, Doody R, Carter R, Shah R, Griffith R, Yeh R, Duara R, Tarawneh R, Turner R, Hernando R, Sperling R, Carson R, El Khouli R, Santulli R, Killiany R, Rodriguez R, Swerdlow R, Borges-Neto S, Black S, Weintraub S, Asthana S, Vaishnavi S, Dolen S, Mason S, Kremen S, Herring S, Sirrel S, Kittur S, Pawluczyk S, Schneider S, Kielb S, Reeder S, Correia S, Pasternack S, Pasternak S, Salloway S, Johnson S, Chao S, Arnold S, Schultz S, Rountree S, Lee T, Wong T, Villena T, Obisesan T, Pavlik V, Bates V, Sossi V, Shibley V, Brooks W, Pavlosky W, Stern Y, Simon A, Dongre A, Dean B, Navia B, Spellman D, Lee D, Shera D, Siemers E, Pickering E, Swenson F, Immerman F, Nomikos G, Soares H, Wan H, Seeburger J, Waring J, Trojanowski J, Siuciak J, Duffin K, Shaw L, Wang L, Thambisetty M, Walton M, Savage M, Ferm M, Kuhn M, Buckholtz N, Zagouras P, Cole P, Hendrickson R, Xie S, Allauzen S, Koroshetz W, Potter W. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 1697-1706. PMID: 29432188, PMCID: PMC5828602, DOI: 10.1073/pnas.1715554115.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseChinese populationAD subjectsDisease pathogenesisImmune systemPlasma biomarker levelsEarly disease onsetMinor allele carriersAlzheimer's disease (AD) pathogenesisGenetic risk factorsImmune-related pathwaysCommon variantsGenotype-phenotype analysisDisease onsetRisk factorsBiomarker levelsLeading causeOnset ageAllele carriersAD riskAD cohortPossible risk effectsFunctional effectsExpression levelsRegulatory effects
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 tomographyBPNDA prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics
Baudrand R, Goodarzi MO, Vaidya A, Underwood PC, Williams JS, Jeunemaitre X, Hopkins PN, Brown N, Raby BA, Lasky-Su J, Adler GK, Cui J, Guo X, Taylor KD, Chen YD, Xiang A, Raffel LJ, Buchanan TA, Rotter JI, Williams GH, Pojoga LH. A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics. Metabolism 2015, 64: 1674-1681. PMID: 26475177, PMCID: PMC4641791, DOI: 10.1016/j.metabol.2015.09.005.Peer-Reviewed Original ResearchConceptsMinor allele carriersAllele carriersMetabolic syndromeInsulin resistanceHigher oddsHigher Framingham risk scoreFramingham risk scoreGene variantsNon-obese subjectsMinor allele carrier statusAllele carrier statusHyperPATH cohortLow HDLMetS diagnosisMetS riskObese subjectsMulticenter studyObesity statusSimilar BMIRisk scoreHispanic cohortClinical implicationsHispanic participantsCohortCarrier status
2013
FADS genotype affects change in fatty acid levels after a Mediterranean dietary intervention
Djuric Z, Porenta S, Ren J, Ko Y, Baylin A, Mukherjee B, Gruber S. FADS genotype affects change in fatty acid levels after a Mediterranean dietary intervention. The FASEB Journal 2013, 27: 372.5-372.5. DOI: 10.1096/fasebj.27.1_supplement.372.5.Peer-Reviewed Original ResearchFatty acid levelsProstaglandin E2Allele carriersColonic mucosaFADS genotypesIntake of n-3Increased colon cancer riskIntake of n-6 fatty acidsMediterranean dietary interventionAcid levelsColon cancer riskMinor allele carriersSerum arachidonic acidFatty acidsFatty acid desaturaseN-6 fatty acid levelsPro-inflammatory eicosanoidsColon cancerDietary interventionFADS clusterN-9 fatty acidsCancer riskMediterranean dietLowered intakeN-6 fatty acids
2012
Lysine-Specific Demethylase 1: An Epigenetic Regulator of Salt-Sensitive Hypertension
Williams JS, Chamarthi B, Goodarzi MO, Pojoga LH, Sun B, Garza AE, Raby BA, Adler GK, Hopkins PN, Brown NJ, Jeunemaitre X, Ferri C, Fang R, Leonor T, Cui J, Guo X, Taylor KD, Chen Y, Xiang A, Raffel LJ, Buchanan TA, Rotter JI, Williams GH, Shi Y. Lysine-Specific Demethylase 1: An Epigenetic Regulator of Salt-Sensitive Hypertension. American Journal Of Hypertension 2012, 25: 812-817. PMID: 22534796, PMCID: PMC3721725, DOI: 10.1038/ajh.2012.43.Peer-Reviewed Original ResearchConceptsMinor allele carriersSalt-sensitive hypertensionBlood pressureSingle nuclear polymorphismsAllele carriersHypertensive cohortDietary saltWT miceLiberal salt dietLiberal salt intakeSystolic blood pressureSerum aldosterone concentrationHeterozygote knockout miceTranslational research studiesRenovascular responsivenessAldosterone concentrationSalt dietDietary sodiumSalt intakeSystolic BPHuman studiesHypertensionKnockout miceClinical relevanceCaucasian cohort
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