2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLOS ONE 2015, 10: e0135193. PMID: 26332594, PMCID: PMC4558085, DOI: 10.1371/journal.pone.0135193.Peer-Reviewed Original ResearchMeSH KeywordsDatabases, GeneticGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenome, HumanGenomicsHumansMutationConceptsSecondary findingsAdditional truncating variantsRelevant secondary findingsCancer predisposition syndromeClinical laboratory specialistsActionable secondary findingsCardiac conditionsAmerican CollegeFamilial hypercholesterolemiaPredisposition syndromeAfrican ancestry groupPathogenic variantsTruncating variantsClinical standardsLiterature reviewActionable conditionsImportant secondary findingActionable findingsDiseaseACMG genesLaboratory specialistsUnderstudied populationAncestry groupsCandidate variantsExpert physiciansRare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans
Olfson E, Saccone NL, Johnson EO, Chen LS, Culverhouse R, Doheny K, Foltz SM, Fox L, Gogarten SM, Hartz S, Hetrick K, Laurie CC, Marosy B, Amin N, Arnett D, Barr RG, Bartz TM, Bertelsen S, Borecki IB, Brown MR, Chasman DI, van Duijn CM, Feitosa MF, Fox ER, Franceschini N, Franco OH, Grove ML, Guo X, Hofman A, Kardia SL, Morrison AC, Musani SK, Psaty BM, Rao DC, Reiner AP, Rice K, Ridker PM, Rose LM, Schick UM, Schwander K, Uitterlinden AG, Vojinovic D, Wang JC, Ware EB, Wilson G, Yao J, Zhao W, Breslau N, Hatsukami D, Stitzel JA, Rice J, Goate A, Bierut LJ. Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. Molecular Psychiatry 2015, 21: 601-607. PMID: 26239294, PMCID: PMC4740321, DOI: 10.1038/mp.2015.105.Peer-Reviewed Original Research
2014
An ADH1B Variant and Peer Drinking in Progression to Adolescent Drinking Milestones: Evidence of a Gene‐by‐Environment Interaction
Olfson E, Edenberg HJ, Nurnberger J, Agrawal A, Bucholz KK, Almasy LA, Chorlian D, Dick DM, Hesselbrock VM, Kramer JR, Kuperman S, Porjesz B, Schuckit MA, Tischfield JA, Wang J, Wetherill L, Foroud TM, Rice J, Goate A, Bierut LJ. An ADH1B Variant and Peer Drinking in Progression to Adolescent Drinking Milestones: Evidence of a Gene‐by‐Environment Interaction. Alcohol Clinical And Experimental Research 2014, 38: 2541-2549. PMID: 25257461, PMCID: PMC4256939, DOI: 10.1111/acer.12524.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlcohol DehydrogenaseAlcohol DrinkingAlcohol-Related DisordersAlcoholismAllelesChildDisease ProgressionDrinking BehaviorFemaleGene-Environment InteractionGenetic VariationHumansLongitudinal StudiesMalePeer GroupProportional Hazards ModelsPsychological DistanceRisk FactorsSocial EnvironmentUnited StatesYoung AdultConceptsProtective effectDSM-5 symptomsFirst intoxicationImportant public health concernProportional hazards regressionAlcohol use disorder symptomsADH1B variantsDrinking milestonesAlcohol use disorderDrinking behaviorPublic health concernDiverse adult populationsAlcohol dehydrogenase 1BFinal modelPrimary outcomeHazards regressionAfrican American individualsRisk factorsUse disordersAdult populationAge 18SymptomsHealth concernIntoxicationDisorder symptoms