2023
Do Polygenic Risk Scores Add to Clinical Data in Predicting Pancreatic Cancer? A Scoping Review.
Wang L, Grimshaw A, Mezzacappa C, Rahimi Larki N, Yang Y, Justice A. Do Polygenic Risk Scores Add to Clinical Data in Predicting Pancreatic Cancer? A Scoping Review. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1490-1497. PMID: 37610426, PMCID: PMC10873036, DOI: 10.1158/1055-9965.epi-23-0468.Peer-Reviewed Original ResearchMeSH KeywordsDatabases, FactualGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePancreatic NeoplasmsRisk FactorsConceptsRoutine risk factorsPancreatic cancerRisk factorsPolygenic risk scoresClinical dataRisk scoreAddition of PRSClinical risk factorsRoutine clinical dataCancer risk predictionDatabase inceptionCancerClinical applicabilityRelevant exposuresGenetic riskRisk predictionCancer-specific polygenic risk scoresScoping ReviewRiskEuropean ancestryPopulation representativeScoresMost studiesAppropriate controlsFactorsIdentifying 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 ResearchMeSH KeywordsAlcoholismGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenomicsPhenotypePolymorphism, Single NucleotideConceptsGenome-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 samplesMulti-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program
Cheng Y, Dao C, Zhou H, Li B, Kember R, Toikumo S, Zhao H, Gelernter J, Kranzler H, Justice A, Xu K. Multi-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program. Translational Psychiatry 2023, 13: 148. PMID: 37147289, PMCID: PMC10162964, DOI: 10.1038/s41398-023-02409-2.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DrinkingAlcoholismGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideSmokingVeteransConceptsSingle-trait genome-wide association studiesGenome-wide association studiesNovel lociPower of GWASJoint genome-wide association studyGenome-wide significant lociMillion Veteran ProgramGenome-wide associationSubstance use traitsGWAS summary statisticsNovel genetic variantsMulti-trait analysisFunctional annotationUse traitsSignificant lociHeritable traitMultiple lociAssociation studiesColocalization analysisLociPleiotropic effectsMTAgVeteran ProgramGenetic variantsTraits
2022
Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci
Deak JD, Zhou H, Galimberti M, Levey DF, Wendt FR, Sanchez-Roige S, Hatoum AS, Johnson EC, Nunez YZ, Demontis D, Børglum AD, Rajagopal VM, Jennings MV, Kember RL, Justice AC, Edenberg HJ, Agrawal A, Polimanti R, Kranzler HR, Gelernter J. Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci. Molecular Psychiatry 2022, 27: 3970-3979. PMID: 35879402, PMCID: PMC9718667, DOI: 10.1038/s41380-022-01709-1.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismBlack PeopleFurinGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansOpioid-Related DisordersPhenotypePolymorphism, Single NucleotideWhite PeopleConceptsGenome-wide association studiesGenome-wide significant risk lociAssociation studiesVariant associationsLarge-scale genome-wide association studiesGenetic correlationsSignificant risk lociPsychiatric Genomics ConsortiumMulti-trait analysisPolygenic risk score analysisSingle-variant associationsGWS lociGenetic architectureIndividuals of EuropeanGWS associationsRisk lociGene regionGenomics ConsortiumMillion Veteran ProgramSusceptibility lociAfrican ancestryLociRisk score analysisGenetic informativenessSNPs oneValidation of a multi-ancestry polygenic risk score and age-specific risks of prostate cancer: A meta-analysis within diverse populations
Chen F, Darst BF, Madduri RK, Rodriguez AA, Sheng X, Rentsch CT, Andrews C, Tang W, Kibel AS, Plym A, Cho K, Jalloh M, Gueye SM, Niang L, Ogunbiyi OJ, Popoola O, Adebiyi AO, Aisuodionoe-Shadrach OI, Ajibola HO, Jamda MA, Oluwole OP, Nwegbu M, Adusei B, Mante S, Darkwa-Abrahams A, Mensah JE, Adjei AA, Diop H, Lachance J, Rebbeck TR, Ambs S, Gaziano JM, Justice AC, Conti DV, Haiman CA. Validation of a multi-ancestry polygenic risk score and age-specific risks of prostate cancer: A meta-analysis within diverse populations. ELife 2022, 11: e78304. PMID: 35801699, PMCID: PMC9322982, DOI: 10.7554/elife.78304.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsCase-Control StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMultifactorial InheritanceProstatic NeoplasmsRisk FactorsUnited StatesConceptsProstate cancer riskPolygenic risk scoresProstate cancerCancer riskOdds ratioMillion Veteran ProgramRisk scoreRisk stratification toolAge-specific absolute risksAfrican ancestry menCancer odds ratiosVeterans Health AdministrationCase-control studyNonaggressive prostate cancerProstate Cancer FoundationAge-specific riskAssociation of PRSPRS categoriesRisk-stratified screeningVeteran ProgramNational Cancer InstituteEuropean ancestry menStratification toolAbsolute riskEffect modification
2020
Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program
Serper M, Vujkovic M, Kaplan DE, Carr RM, Lee KM, Shao Q, Miller DR, Reaven PD, Phillips LS, O’Donnell C, Meigs JB, Wilson PWF, Vickers-Smith R, Kranzler HR, Justice AC, Gaziano JM, Muralidhar S, Pyarajan S, DuVall SL, Assimes TL, Lee JS, Tsao PS, Rader DJ, Damrauer SM, Lynch JA, Saleheen D, Voight BF, Chang KM, . Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program. PLOS ONE 2020, 15: e0237430. PMID: 32841307, PMCID: PMC7447043, DOI: 10.1371/journal.pone.0237430.Peer-Reviewed Original ResearchMeSH Keywords17-Hydroxysteroid DehydrogenasesAbdomenAdaptor Proteins, Signal TransducingAgedAlanine TransaminaseElectronic Health RecordsFemaleGenetic LociGenetic Predisposition to DiseaseGenetic VariationHumansLipaseLiverLysophospholipaseMaleMembrane ProteinsMiddle AgedNon-alcoholic Fatty Liver DiseasePhenotypeRisk FactorsVeteransConceptsMetabolic risk factorsNAFLD phenotypeAlanine aminotransferaseUnits/LElectronic health recordsAdvanced fibrosisRisk factorsMillion Veteran ProgramAlcohol consumptionNon-invasive criteriaNormal alanine aminotransferaseNAFLD fibrosis scorePopulation-based studyGenetic variantsFatty liver phenotypeVeteran ProgramPNPLA3 locusNAFLD riskLiver biopsyLiver diseaseFibrosis scoreEHR reviewUS veteransBiopsy dataAbdominal imagingGenome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits
Zhou H, Sealock JM, Sanchez-Roige S, Clarke TK, Levey DF, Cheng Z, Li B, Polimanti R, Kember RL, Smith RV, Thygesen JH, Morgan MY, Atkinson SR, Thursz MR, Nyegaard M, Mattheisen M, Børglum AD, Johnson EC, Justice AC, Palmer AA, McQuillin A, Davis LK, Edenberg HJ, Agrawal A, Kranzler HR, Gelernter J. Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. Nature Neuroscience 2020, 23: 809-818. PMID: 32451486, PMCID: PMC7485556, DOI: 10.1038/s41593-020-0643-5.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DrinkingAlcoholismDatasets as TopicFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritanceConceptsRegulatory genomic regionsGenome-wide association studiesNovel risk lociEuropean ancestry individualsPolygenic risk score analysisIndependent risk variantsGenetic architectureGenomic regionsRisk lociAssociation studiesGenetic relationshipsRisk genesGenetic correlationsPsychiatric traitsRisk variantsRisk score analysisTraitsGenetic heritabilityYields insightsBiobank samplesMendelian randomizationGenesLociBiologyHeritability
2011
A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease
Vanasse GJ, Jeong JY, Tate J, Bathulapalli H, Anderson D, Steen H, Fleming M, Mattocks K, Telenti A, Fellay J, Justice AC, Berliner N. A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease. Blood 2011, 118: 5401-5408. PMID: 21926355, PMCID: PMC3217345, DOI: 10.1182/blood-2011-06-362194.Peer-Reviewed Original ResearchConceptsVeterans Aging Cohort StudyCombined antiretroviral therapyPrevalence of anemiaHIV diseaseSingle nucleotide polymorphismsModern combined antiretroviral therapyWorld Health Organization criteriaAging Cohort StudyA Single Nucleotide PolymorphismGene single nucleotide polymorphismsLeptin gene promoterHIV subjectsAntiretroviral therapyCohort studyHIV statusOrganization criteriaClinical dataIndependent cohortAnemiaHIVPatientsLeptin genePrevalenceDiseaseCandidate gene approach