2018
Using DNA methylation to validate an electronic medical record phenotype for smoking
McGinnis KA, Justice AC, Tate JP, Kranzler HR, Tindle HA, Becker WC, Concato J, Gelernter J, Li B, Zhang X, Zhao H, Crothers K, Xu K, Group F. Using DNA methylation to validate an electronic medical record phenotype for smoking. Addiction Biology 2018, 24: 1056-1065. PMID: 30284751, PMCID: PMC6541538, DOI: 10.1111/adb.12670.Peer-Reviewed Original ResearchConceptsVeterans Aging Cohort StudyAging Cohort StudyStrong associationDNA methylation sitesSmoking metricsCohort studyCurrent smokingSmoking statusSpearman correlation coefficientBiomarker cohortBlood samplesSmoking behaviorCriterion standardLogistic regressionSmokingSmoking phenotypesCurve analysisGroup assignmentText notesAssociationDescriptive statisticsPhenotypeCorrelation coefficientGenetic discoveriesPercent
2016
Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women
Polimanti R, Kranzler HR, Gelernter J. Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women. Neuropsychopharmacology 2016, 41: 2688-2696. PMID: 27187070, PMCID: PMC5026736, DOI: 10.1038/npp.2016.72.Peer-Reviewed Original ResearchConceptsHealth initiativesRisk allelesSocioeconomic statusPhenome-wide association studyWomen's Health InitiativeMetabolism-related mechanismsMedication useLung cancerTobacco useDietary habitsSmoking behaviorNicotine useReproductive historyReproductive healthSuggestive findingsAlcohol useAnthropometric characteristicsMental healthHealth conditionsMetabolic conditionsCausative relationshipAssociation studiesDrinking behaviorADH1BAssociation
2015
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence
Hancock DB, Reginsson GW, Gaddis NC, Chen X, Saccone NL, Lutz SM, Qaiser B, Sherva R, Steinberg S, Zink F, Stacey SN, Glasheen C, Chen J, Gu F, Frederiksen BN, Loukola A, Gudbjartsson DF, Brüske I, Landi MT, Bickeböller H, Madden P, Farrer L, Kaprio J, Kranzler HR, Gelernter J, Baker TB, Kraft P, Amos CI, Caporaso NE, Hokanson JE, Bierut LJ, Thorgeirsson TE, Johnson EO, Stefansson K. Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. Translational Psychiatry 2015, 5: e651-e651. PMID: 26440539, PMCID: PMC4930126, DOI: 10.1038/tp.2015.149.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesEuropean ancestry samplesNonsense-mediated decayWide significant associationsNicotinic receptor subunit geneReceptor subunit genesImportant regulatory propertiesNicotine dependenceSubunit geneAssociation studiesChromosome 20q13Regulatory propertiesLung cancer riskNovel variantsNormal human brainSmoking-related consequencesLung cancerCancer riskFagerström TestCHRNA4Smoking behaviorSignificant associationVariantsGenomeGenes
2014
FKBP5 variation is associated with the acute and chronic effects of nicotine
Jensen KP, Herman AI, Morean ME, Kranzler HR, Gelernter J, Sofuoglu M. FKBP5 variation is associated with the acute and chronic effects of nicotine. The Pharmacogenomics Journal 2014, 15: 340-346. PMID: 25532758, PMCID: PMC4599366, DOI: 10.1038/tpj.2014.76.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBlack or African AmericanBlood PressureDiagnostic and Statistical Manual of Mental DisordersGene FrequencyGenotypeHeart RateHumansHydrocortisoneInjections, IntravenousNicotineNicotinic AgonistsRNARNA, MessengerSmokingSubstance Withdrawal SyndromeTacrolimus Binding ProteinsWhite PeopleConceptsNicotine withdrawalFKBP5 mRNA expressionNegative drug effectsHeart rateIndependent cohortDrug effectsMRNA expressionMinor alleleChronic behavioral effectsEffects of nicotineStress hormone regulationLower cortisol levelsWarrants further investigationSevere nicotine withdrawalCurrent smokersBlood pressureHeavy smokersQuit attemptsHR responseSmoking behaviorCortisol responseCortisol levelsLower subjective ratingsSmokersChronic effects
2013
Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking
Stephens SH, Hartz SM, Hoft NR, Saccone NL, Corley RC, Hewitt JK, Hopfer CJ, Breslau N, Coon H, Chen X, Ducci F, Dueker N, Franceschini N, Frank J, Han Y, Hansel NN, Jiang C, Korhonen T, Lind PA, Liu J, Lyytikäinen L, Michel M, Shaffer JR, Short SE, Sun J, Teumer A, Thompson JR, Vogelzangs N, Vink JM, Wenzlaff A, Wheeler W, Yang B, Aggen SH, Balmforth AJ, Baumeister SE, Beaty TH, Benjamin DJ, Bergen AW, Broms U, Cesarini D, Chatterjee N, Chen J, Cheng Y, Cichon S, Couper D, Cucca F, Dick D, Foroud T, Furberg H, Giegling I, Gillespie NA, Gu F, Hall AS, Hällfors J, Han S, Hartmann AM, Heikkilä K, Hickie IB, Hottenga JJ, Jousilahti P, Kaakinen M, Kähönen M, Koellinger PD, Kittner S, Konte B, Landi M, Laatikainen T, Leppert M, Levy SM, Mathias RA, McNeil DW, Medland SE, Montgomery GW, Murray T, Nauck M, North KE, Paré PD, Pergadia M, Ruczinski I, Salomaa V, Viikari J, Willemsen G, Barnes KC, Boerwinkle E, Boomsma DI, Caporaso N, Edenberg HJ, Francks C, Gelernter J, Grabe HJ, Hops H, Jarvelin M, Johannesson M, Kendler KS, Lehtimäki T, Magnusson PK, Marazita ML, Marchini J, Mitchell BD, Nöthen MM, Penninx BW, Raitakari O, Rietschel M, Rujescu D, Samani NJ, Schwartz AG, Shete S, Spitz M, Swan GE, Völzke H, Veijola J, Wei Q, Amos C, Cannon DS, Grucza R, Hatsukami D, Heath A, Johnson EO, Kaprio J, Madden P, Martin NG, Stevens VL, Weiss RB, Kraft P, Bierut LJ, Ehringer MA. Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking. Genetic Epidemiology 2013, 37: 846-859. PMID: 24186853, PMCID: PMC3947535, DOI: 10.1002/gepi.21760.Peer-Reviewed Original ResearchConceptsGene clusterAssociation signalsEarly smoking behaviourSmoking behaviorCHRNA5/A3/B4 gene clusterNicotinic acetylcholine receptor genesRobust association signalsNeuronal nicotinic acetylcholine receptor geneAcetylcholine receptor genesNicotine dependenceCHRNB4 gene clusterSignificant associationB4 gene clusterDistinct lociLung cancer riskRegular tobacco useAssociation resultsNicotine dependence phenotypesDependence phenotypesReceptor geneCotinine levelsRs1948PhenotypeRegular smokingProtective effect
2010
Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD
Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han Y, Keskitalo-Vuokko K, Kong X, Landi MT, Z. J, Short SE, Stephens SH, Stevens VL, Sun L, Wang Y, Wenzlaff AS, Aggen SH, Breslau N, Broderick P, Chatterjee N, Chen J, Heath AC, Heliövaara M, Hoft NR, Hunter DJ, Jensen MK, Martin NG, Montgomery GW, Niu T, Payne TJ, Peltonen L, Pergadia ML, Rice JP, Sherva R, Spitz MR, Sun J, Wang JC, Weiss RB, Wheeler W, Witt SH, Yang BZ, Caporaso NE, Ehringer MA, Eisen T, Gapstur SM, Gelernter J, Houlston R, Kaprio J, Kendler KS, Kraft P, Leppert MF, Li MD, Madden PA, Nöthen MM, Pillai S, Rietschel M, Rujescu D, Schwartz A, Amos CI, Bierut LJ. Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD. PLOS Genetics 2010, 6: e1001053. PMID: 20700436, PMCID: PMC2916847, DOI: 10.1371/journal.pgen.1001053.Peer-Reviewed Original ResearchConceptsChronic obstructive pulmonary diseaseLung cancerNicotine dependenceSmoking behaviorSmoking quantityObstructive pulmonary diseaseSmoking-related diseasesLung cancer casesPulmonary diseaseNicotinic receptor subunit geneCOPD casesIndependent associationLung tissueCancer casesReceptor subunit genesMeta-AnalysisSignificant associationSmokingRs16969968CancerSmoking phenotypesGenetic association findingsSNP rs16969968MRNA levelsCHRNA5-CHRNA3Meta-Analysis of 15 Genome-Wide Linkage Scans of Smoking Behavior
Han S, Gelernter J, Luo X, Yang BZ. Meta-Analysis of 15 Genome-Wide Linkage Scans of Smoking Behavior. Biological Psychiatry 2010, 67: 12-19. PMID: 19819424, PMCID: PMC2975396, DOI: 10.1016/j.biopsych.2009.08.028.Peer-Reviewed Original ResearchConceptsSmoking behaviorGenome-wide suggestive linkageGenome-wide linkage scanSubgroup analysisGenome scan resultsScan resultsLinkage scanSuggestive linkageGenome-wide significant linkageFagerstrom TestCandidate gene identificationNicotine dependenceRe-sequencing studiesMeta-AnalysisSecondary analysis