2023
Identifying genetic loci and phenomic associations of substance use traits: A multi‐trait analysis of GWAS (MTAG) study
Xu H, Toikumo S, Crist R, Glogowska K, Jinwala Z, Deak J, Justice A, Gelernter J, Johnson E, Kranzler H, Kember R. Identifying genetic loci and phenomic associations of substance use traits: A multi‐trait analysis of GWAS (MTAG) study. Addiction 2023, 118: 1942-1952. PMID: 37156939, PMCID: PMC10754226, DOI: 10.1111/add.16229.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSignificant single nucleotide polymorphismsSubstance use traitsMulti-trait analysisAssociation studiesGenetic architectureUse traitsGenome-wide significant single nucleotide polymorphismsProtein-protein interaction analysisTrait genetic architectureNumber of lociPolygenic risk scoresEuropean ancestry individualsNovel lociSingle nucleotide polymorphismsGenetic lociGWAS studiesLociMultiple related phenotypesNucleotide polymorphismsRelated phenotypesTraitsNovel associationsMTAgBiobank samplesMultivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders
Hatoum A, Colbert S, Johnson E, Huggett S, Deak J, Pathak G, Jennings M, Paul S, Karcher N, Hansen I, Baranger D, Edwards A, Grotzinger A, Tucker-Drob E, Kranzler H, Davis L, Sanchez-Roige S, Polimanti R, Gelernter J, Edenberg H, Bogdan R, Agrawal A. Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nature Mental Health 2023, 1: 210-223. PMID: 37250466, PMCID: PMC10217792, DOI: 10.1038/s44220-023-00034-y.Peer-Reviewed Original ResearchGenome-wide associationGenetic risk lociIndependent single nucleotide polymorphismsProblematic tobacco useSingle nucleotide polymorphismsRisk lociHigh polygenicityLociReceptor geneAddiction risk factorsPolygenic risk scoresEuropean descentPolygenicityGenesSummary statisticsSubstance use disordersSomatic conditionsAncestryRegulationConfersUse disordersPolymorphismGenetic liabilityDopamine regulationPDE4B
2022
Exploring the genetic overlap between twelve psychiatric disorders
Romero C, Werme J, Jansen P, Gelernter J, Stein M, Levey D, Polimanti R, de Leeuw C, Posthuma D, Nagel M, van der Sluis S. Exploring the genetic overlap between twelve psychiatric disorders. Nature Genetics 2022, 54: 1795-1802. PMID: 36471075, DOI: 10.1038/s41588-022-01245-2.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPleiotropic single nucleotide polymorphismsPositive genetic correlationStringent P-value thresholdGenetic architectureGenomic regionsGenetic covarianceBiological processesBiological pathwaysMolecular characterizationObserved phenotypicGenetic correlationsGenetic overlapBiological characterizationBiological mechanismsP-value thresholdOnly annotationGenesPleiotropicPairwise comparisonsPhenotypicPathwayAnnotationPolymorphismCharacterizationPost‐treatment effects of topiramate on alcohol‐related outcomes: A combined analysis of two placebo‐controlled trials
Kranzler HR, Feinn R, Pond T, Hartwell E, Gelernter J, Crist RC, Witkiewitz K. Post‐treatment effects of topiramate on alcohol‐related outcomes: A combined analysis of two placebo‐controlled trials. Addiction Biology 2022, 27: e13130. PMID: 35229945, PMCID: PMC9257958, DOI: 10.1111/adb.13130.Peer-Reviewed Original ResearchConceptsAlcohol use disorderPost-treatment periodAlcohol-related outcomesAlcohol-related problemsTopiramate's effectsSingle nucleotide polymorphismsPlacebo-controlled trialPrimary treatment outcomeOptimal treatment durationSelf-reported alcohol consumptionTrial of topiramatePost-treatment effectsTopiramate groupPlacebo groupSecond RCTMedication effectsTreatment outcomesProblematic alcohol useTopiramateTreatment durationUse disordersAlcohol consumptionΓ-glutamyltransferaseRobust effectGenotype groups
2021
Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder
Johnson EC, Kapoor M, Hatoum AS, Zhou H, Polimanti R, Wendt FR, Walters RK, Lai D, Kember RL, Hartz S, Meyers JL, Peterson RE, Ripke S, Bigdeli TB, Fanous AH, Pato CN, Pato MT, Goate AM, Kranzler HR, O'Donovan MC, Walters JTR, Gelernter J, Edenberg HJ, Agrawal A. Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder. Psychological Medicine 2021, 53: 1196-1204. PMID: 34231451, PMCID: PMC8738774, DOI: 10.1017/s003329172100266x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant single nucleotide polymorphismsLarge-scale genome-wide association studiesSignificant single nucleotide polymorphismsIndependent genome-wide significant single nucleotide polymorphismsSignificant genetic correlationsGenomic regionsSingle nucleotide polymorphismsGene expressionGenetic covariancePleiotropic associationsAssociation studiesGenetic correlationsGenetic variantsNucleotide polymorphismsGenetic overlapDisorder-specific effectsAlcohol use disorderGenetic influencesGenesUse disorders
2020
A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction
Sun J, Kranzler HR, Gelernter J, Bi J. A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction. Journal Of Psychiatry And Neuroscience 2020, 45: 34-44. PMID: 31490055, PMCID: PMC6919916, DOI: 10.1503/jpn.180098.Peer-Reviewed Original ResearchConceptsGenetic lociGenome-wide association testsPhenotypic heterogeneityNew genetic lociGenetic variantsWide association studyGene-environment interplayNovel genetic variantsHigh heritability estimatesSignificant genomeReplication sampleSingle nucleotide polymorphismsGenetic variationAssociation studiesLociNucleotide polymorphismsAssociation TestHeritability estimatesGene-environment interactionsReplication resultsCluster analysisEnvironmental factorsTRAK2GenomeDiscovery phase
2018
GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability
Pasman JA, Verweij KJH, Gerring Z, Stringer S, Sanchez-Roige S, Treur JL, Abdellaoui A, Nivard MG, Baselmans BML, Ong JS, Ip HF, van der Zee MD, Bartels M, Day FR, Fontanillas P, Elson SL, the 23andMe Research Team, de Wit H, Davis LK, MacKillop J, The Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Derringer JL, Branje SJT, Hartman CA, Heath AC, van Lier PAC, Madden PAF, Mägi R, Meeus W, Montgomery GW, Oldehinkel AJ, Pausova Z, Ramos-Quiroga JA, Paus T, Ribases M, Kaprio J, Boks MPM, Bell JT, Spector TD, Gelernter J, Boomsma DI, Martin NG, MacGregor S, Perry JRB, Palmer AA, Posthuma D, Munafò MR, Gillespie NA, Derks EM, Vink JM. GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability. Nature Neuroscience 2018, 21: 1161-1170. PMID: 30150663, PMCID: PMC6386176, DOI: 10.1038/s41593-018-0206-1.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overCell Adhesion MoleculesDatabases, GeneticFemaleGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMarijuana AbuseMendelian Randomization AnalysisMental HealthMiddle AgedPolymorphism, Single NucleotideRisk-TakingSchizophreniaYoung AdultConceptsGenome-wide association studiesNew risk lociLarge genome-wide association studiesGene-based testsIndependent single nucleotide polymorphismsDifferent expression levelsSignificant genetic correlationsHealth-related traitsSingle nucleotide polymorphismsEtiology of cannabisHeritable traitRisk lociSignificant genesAssociation studiesGenetic correlationsPsychiatric traitsGenetic variantsNucleotide polymorphismsGenetic overlapExpression levelsTraitsGenesNew insightsSchizophrenia riskMendelian randomization analysisGenome‐wide association meta‐analysis of age at first cannabis use
Minică CC, Verweij KJH, van der Most P, Mbarek H, Bernard M, van Eijk K, Lind PA, Liu MZ, Maciejewski DF, Palviainen T, Sánchez‐Mora C, Sherva R, Taylor M, Walters RK, Abdellaoui A, Bigdeli TB, Branje SJT, Brown SA, Casas M, Corley RP, Davey‐Smith G, Davies GE, Ehli EA, Farrer L, Fedko IO, Garcia‐Martínez I, Gordon SD, Hartman CA, Heath AC, Hickie IB, Hickman M, Hopfer CJ, Hottenga JJ, Kahn RS, Kaprio J, Korhonen T, Kranzler HR, Krauter K, van Lier P, Madden PAF, Medland SE, Neale MC, Meeus WHJ, Montgomery GW, Nolte IM, Oldehinkel AJ, Pausova Z, Ramos‐Quiroga J, Richarte V, Rose RJ, Shin J, Stallings MC, Wall TL, Ware JJ, Wright MJ, Zhao H, Koot HM, Paus T, Hewitt JK, Ribasés M, Loukola A, Boks MP, Snieder H, Munafò MR, Gelernter J, Boomsma DI, Martin NG, Gillespie NA, Vink JM, Derks EM. Genome‐wide association meta‐analysis of age at first cannabis use. Addiction 2018, 113: 2073-2086. PMID: 30003630, PMCID: PMC7087375, DOI: 10.1111/add.14368.Peer-Reviewed Original ResearchConceptsGenome-wide associationSingle nucleotide polymorphismsLinkage disequilibriumTwin-based heritabilityGene-based testsHigh linkage disequilibriumATPase geneWide associationATP2C2 geneChromosome 16Heritability analysisHeritability of ageGenetic variantsNucleotide polymorphismsDiscovery sampleHeritabilityGenesATP2C2Replication sampleEnvironmental factorsRole of calciumIdentified associationsFirst cannabis useFirst cannabisATP2B2Genome‐wide association study of cognitive flexibility assessed by the Wisconsin Card Sorting Test
Zhang H, Zhou H, Lencz T, Farrer LA, Kranzler HR, Gelernter J. Genome‐wide association study of cognitive flexibility assessed by the Wisconsin Card Sorting Test. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2018, 177: 511-519. PMID: 30134085, PMCID: PMC6110090, DOI: 10.1002/ajmg.b.32642.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsAssociation studiesGenome-wide significant associationUbiquitin-specific peptidase 9Top single nucleotide polymorphismsComplex trait analysisEnriched gene setsPolygenic risk score analysisCommon single nucleotide polymorphismsGWS associationsSame effect directionGene setsPopulation variationProtein degradationNongenetic factorsTrait analysisChromosome 15Genetic correlationsRisk score analysisNucleotide polymorphismsEffect directionEuropean-American subjectsGenetic factorsBrain development
2017
Genome-wide association study identifies a novel locus for cannabis dependence
Agrawal A, Chou YL, Carey CE, Baranger DAA, Zhang B, Sherva R, Wetherill L, Kapoor M, Wang JC, Bertelsen S, Anokhin AP, Hesselbrock V, Kramer J, Lynskey MT, Meyers JL, Nurnberger JI, Rice JP, Tischfield J, Bierut LJ, Degenhardt L, Farrer LA, Gelernter J, Hariri AR, Heath AC, Kranzler HR, Madden PAF, Martin NG, Montgomery GW, Porjesz B, Wang T, Whitfield JB, Edenberg HJ, Foroud T, Goate AM, Bogdan R, Nelson EC. Genome-wide association study identifies a novel locus for cannabis dependence. Molecular Psychiatry 2017, 23: 1293-1302. PMID: 29112194, PMCID: PMC5938138, DOI: 10.1038/mp.2017.200.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesBlack or African AmericanCannabisCase-Control StudiesChromosomes, Human, Pair 10Cohort StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMarijuana AbuseMiddle AgedPhenotypePolymorphism, Single NucleotideWhite PeopleYoung AdultConceptsWide significant lociSingle nucleotide polymorphismsSignificant lociGenome-wide significant lociGenome-wide association study dataGenome-wide association studiesAssociation study dataCorrelated single-nucleotide polymorphismsNovel lociTranscription factorsChromosome 10Association studiesModerate heritabilityNovel regionLociBiological contributionEA college studentsMinor alleleEuropean descentH3K4me1Criterion countsHeritabilityPhenotypeEnhancerIndependent cohortLargest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability
Duncan LE, Ratanatharathorn A, Aiello AE, Almli LM, Amstadter AB, Ashley-Koch AE, Baker DG, Beckham JC, Bierut LJ, Bisson J, Bradley B, Chen CY, Dalvie S, Farrer LA, Galea S, Garrett ME, Gelernter JE, Guffanti G, Hauser MA, Johnson EO, Kessler RC, Kimbrel NA, King A, Koen N, Kranzler HR, Logue MW, Maihofer AX, Martin AR, Miller MW, Morey RA, Nugent NR, Rice JP, Ripke S, Roberts AL, Saccone NL, Smoller JW, Stein DJ, Stein MB, Sumner JA, Uddin M, Ursano RJ, Wildman DE, Yehuda R, Zhao H, Daly MJ, Liberzon I, Ressler KJ, Nievergelt CM, Koenen KC. Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability. Molecular Psychiatry 2017, 23: 666-673. PMID: 28439101, PMCID: PMC5696105, DOI: 10.1038/mp.2017.77.Peer-Reviewed Original ResearchMeSH KeywordsAdultBipolar DisorderBlack or African AmericanCase-Control StudiesDepressive Disorder, MajorFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMultifactorial InheritancePolymorphism, Single NucleotideRisk FactorsSchizophreniaSex CharacteristicsSex FactorsStress Disorders, Post-TraumaticWhite PeopleConceptsSingle nucleotide polymorphismsRisk lociSNP-level summary statisticsGenomic data resourcesGenome-wide significanceMolecular genetic dataComplex genetic disorderPolygenic risk predictionGenetic dataAncestral diversityLarge GWASGenetic indicesDiverse phenotypesGenetic riskHeritability estimatesLociSummary statisticsGenetic disordersHeritabilityGenetic influencesGWASDiversityPhenotypeTransethnicStrong evidence
2016
A protocadherin gene cluster regulatory variant is associated with nicotine withdrawal and the urge to smoke
Jensen KP, Smith AH, Herman AI, Farrer LA, Kranzler HR, Sofuoglu M, Gelernter J. A protocadherin gene cluster regulatory variant is associated with nicotine withdrawal and the urge to smoke. Molecular Psychiatry 2016, 22: 242-249. PMID: 27067016, PMCID: PMC5390815, DOI: 10.1038/mp.2016.43.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack or African AmericanCadherinsDiagnostic and Statistical Manual of Mental DisordersFemaleGene Expression RegulationGenome-Wide Association StudyHumansMaleMultigene FamilyNicotinePolymorphism, Single NucleotideProtocadherinsRecurrenceSmokingSmoking CessationSubstance Withdrawal SyndromeTobacco Use DisorderWhite PeopleConceptsNicotine withdrawalSingle nucleotide polymorphismsNovel smoking cessation treatmentsAfrican AmericansSmoking cessation treatmentNicotine withdrawal symptomsOvernight smoking abstinenceEuropean American smokersFrontal cortex tissueΓ geneCessation treatmentTobacco smokingSmoking abstinenceWithdrawal symptomsAbstinent smokersAmerican smokersΓ gene expressionNicotine infusionSmoking urgesInfusion studiesSmokersMRNA expressionRisk allelesCortex tissueBrief questionnaireCHRNA4 and ANKK1 Polymorphisms Influence Smoking-Induced Nicotinic Acetylcholine Receptor Upregulation
Esterlis I, Hillmer AT, Bois F, Pittman B, McGovern E, O’Malley S, Picciotto MR, Yang BZ, Gelernter J, Cosgrove KP. CHRNA4 and ANKK1 Polymorphisms Influence Smoking-Induced Nicotinic Acetylcholine Receptor Upregulation. Nicotine & Tobacco Research 2016, 18: 1845-1852. PMID: 27611310, PMCID: PMC4978979, DOI: 10.1093/ntr/ntw081.Peer-Reviewed Original ResearchMeSH KeywordsAdultCase-Control StudiesCorpus StriatumFemaleHumansIodine RadioisotopesMalePolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptors, NicotinicSmokingSmoking CessationSmoking PreventionTobacco Use DisorderTomography, Emission-Computed, Single-PhotonUp-RegulationWhite PeopleConceptsSmoking-induced changesWeeks of abstinenceNAChR availabilitySmoking cessationNicotine dependenceSex-matched nonsmokersTomography brain scanSingle nucleotide polymorphismsNicotinic acetylcholine receptorsSingle photon emissionDays of abstinenceNonsmoker levelsTobacco smokingReceptor upregulationBlood samplesAcetylcholine receptorsBrain scansCHRNA4 variantsCortical regionsSmokersCarrier statusExtended abstinenceAbstinencePersonalized programsNonsmokers
2015
Evidence of CNIH3 involvement in opioid dependence
Nelson EC, Agrawal A, Heath AC, Bogdan R, Sherva R, Zhang B, Al-Hasani R, Bruchas MR, Chou YL, Demers CH, Carey CE, Conley ED, Fakira AK, Farrer LA, Goate A, Gordon S, Henders AK, Hesselbrock V, Kapoor M, Lynskey MT, Madden PA, Moron JA, Rice JP, Saccone NL, Schwab SG, Shand FL, Todorov AA, Wallace L, Wang T, Wray NR, Zhou X, Degenhardt L, Martin NG, Hariri AR, Kranzler HR, Gelernter J, Bierut LJ, Clark DJ, Montgomery GW. Evidence of CNIH3 involvement in opioid dependence. Molecular Psychiatry 2015, 21: 608-614. PMID: 26239289, PMCID: PMC4740268, DOI: 10.1038/mp.2015.102.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide association studiesComputational genetic analysisEpigenetic annotationsGenetic analysisAssociation studiesGenetic studiesStudy of AddictionVivo functionalityMouse strainsOpioid dependenceNeurogenetics StudySevere addictive disordersΑ-aminoGenesOpioid misusersGeneticsCnih3SNPsDuke Neurogenetics StudyHaplotypesPhenotypeA alleleAllelesFetal brain
2014
Posttreatment Effects of Topiramate Treatment for Heavy Drinking
Kranzler HR, Wetherill R, Feinn R, Pond T, Gelernter J, Covault J. Posttreatment Effects of Topiramate Treatment for Heavy Drinking. Alcohol Clinical And Experimental Research 2014, 38: 3017-3023. PMID: 25581656, PMCID: PMC4293099, DOI: 10.1111/acer.12578.Peer-Reviewed Original ResearchConceptsPercent days abstinentHeavy drinking daysTopiramate treatmentHeavy drinkingDrinking daysHeavy drinkersAllele homozygotesPlacebo-controlled trialEffects of topiramateEnd of treatmentPersistent therapeutic effectKainate receptor subunitsHigher percent days abstinentTherapeutic effectTreatment goalsAlcohol-related problemsAllele carriersDays abstinentAbstinent daysPosttreatment effectsReceptor subunitsReduced drinkingSingle nucleotide polymorphismsStatistical significanceComplete dataThe Joint Effects of ADH1B Variants and Childhood Adversity on Alcohol Related Phenotypes in African‐American and European‐American Women and Men
Sartor CE, Wang Z, Xu K, Kranzler HR, Gelernter J. The Joint Effects of ADH1B Variants and Childhood Adversity on Alcohol Related Phenotypes in African‐American and European‐American Women and Men. Alcohol Clinical And Experimental Research 2014, 38: 2907-2914. PMID: 25410943, PMCID: PMC4445128, DOI: 10.1111/acer.12572.Peer-Reviewed Original ResearchConceptsChildhood adversityAllele carriersEA menAlcohol use disorder symptomsAlcohol phenotypesRisk factorsAA womenProtective effectADH1B rs1229984Psychiatric outcomesEA womenEuropean American womenOrdinal regression analysisProtective allelesAlcohol dependenceAUD symptomsSubstance dependenceSingle nucleotide polymorphismsDisorder symptomsADH1B variantsAlcohol problemsWomenMenRegression analysisSignificant main effectGenetics of Complex Traits in Psychiatry
Gelernter J. Genetics of Complex Traits in Psychiatry. Biological Psychiatry 2014, 77: 36-42. PMID: 25444161, PMCID: PMC4282183, DOI: 10.1016/j.biopsych.2014.08.005.Peer-Reviewed Original ResearchConceptsComplex traitsNext-generation high-throughput sequencingGenome-wide association studiesHigh-throughput sequencingSingle nucleotide polymorphismsEpigenetic effectsRisk allelesAssociation studiesExpression dataMultiple risk allelesPsychiatric geneticsPsychiatric traitsNumber variantsNucleotide polymorphismsTraitsGeneticsNew mutationsTrait riskAllelesEpistasisMinor effectMethylationKind of variationVariantsSequencingThe α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder
Jensen KP, Stein MB, Kranzler HR, Yang BZ, Farrer LA, Gelernter J. The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder. Translational Psychiatry 2014, 4: e353-e353. PMID: 24473444, PMCID: PMC3905232, DOI: 10.1038/tp.2013.122.Peer-Reviewed Original ResearchConceptsPanic disorderAnxiety disordersCocaine-induced paranoiaAnxiety disorder casesWhole blood cellsPsychiatric disorder riskWarrants further investigationAfrican American subjectsComorbid drugPD casesPsychiatric disordersAlcohol dependenceBrain tissueCocaine useBehavioral effectsBlood cellsClinical potentialGene variantsDisordersDisorder casesSingle nucleotide polymorphismsDisorder riskIndependent samplesPsychiatric phenotypesFurther investigation
2013
Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants
Yang C, Li C, Kranzler HR, Farrer LA, Zhao H, Gelernter J. Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants. Human Genetics 2013, 133: 617-624. PMID: 24297757, PMCID: PMC3988209, DOI: 10.1007/s00439-013-1399-8.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPhenotypic varianceGenetic architectureSubset of SNPsTop single nucleotide polymorphismsKb of genesCommon variantsAD risk genesCommon single nucleotide polymorphismsGenome partitioningGenomewide association studiesPolygenic traitChromosome 4Illumina OmniAssociation studiesRisk genesGenetic variantsGenomewide setComplex psychiatric disorderGenesFunctional partitioningMultiple variantsGenetic factorsDevelopment of ADVariantsALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample
Quillen EE, Chen X, Almasy L, Yang F, He H, Li X, Wang X, Liu T, Hao W, Deng H, Kranzler HR, Gelernter J. ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2013, 165: 103-110. PMID: 24277619, PMCID: PMC4149216, DOI: 10.1002/ajmg.b.32213.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCandidate single nucleotide polymorphismsGenome-wide association analysisCandidate gene studiesPhenotypic variationMajor genetic determinantGWAS studiesHeritable phenotypesAldehyde dehydrogenase deficiencyGene studiesAssociation analysisRisk genesLinkage disequilibriumGenetic determinantsExtended pedigreesNucleotide polymorphismsNorthern Hunan ProvinceAD-related phenotypesPhenotypeALDH2Consumption rateCCDC63