2020
Genotyping Array Design and Data Quality Control in the Million Veteran Program
Hunter-Zinck H, Shi Y, Li M, Gorman BR, Ji SG, Sun N, Webster T, Liem A, Hsieh P, Devineni P, Karnam P, Gong X, Radhakrishnan L, Schmidt J, Assimes TL, Huang J, Pan C, Humphries D, Brophy M, Moser J, Muralidhar S, Huang GD, Przygodzki R, Concato J, Gaziano JM, Gelernter J, O’Donnell C, Hauser ER, Zhao H, O’Leary T, Program V, Tsao PS, Pyarajan S. Genotyping Array Design and Data Quality Control in the Million Veteran Program. American Journal Of Human Genetics 2020, 106: 535-548. PMID: 32243820, PMCID: PMC7118558, DOI: 10.1016/j.ajhg.2020.03.004.Peer-Reviewed Original ResearchConceptsMillion Veteran ProgramGenome-wide association studiesGenome-wide scanHigh-quality genotypesArray-based genotypingWhole-genome sequencingNon-European individualsAssociation studiesGenetic markersOmics assaysAxiom arrayDownstream analysisVeteran ProgramCommon variantsGenetic associationAfrican American ancestryAmerican ancestryMVP cohortRare variantsSingle assayDiversityFurther data releasesLarge biobanksPromising resourceQuality control
2019
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, Stein MB, Torres K, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Babić D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Børglum AD, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas- de- Almeida J, Dale AM, Daly MJ, Daskalakis NP, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Dzubur-Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Geuze E, Gillespie C, Uka AG, Gordon SD, Guffanti G, Hammamieh R, Harnal S, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Junglen AG, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis CE, Linnstaedt SD, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller J, Marmar C, Martin AR, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, McLeay S, Mehta D, Milberg WP, Miller MW, Morey RA, Morris CP, Mors O, Mortensen PB, Neale BM, Nelson EC, Nordentoft M, Norman SB, O’Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Ripke S, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero K, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Sumner JA, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Wolff JD, Yehuda R, Young RM, Young KA, Zhao H, Zoellner LA, Liberzon I, Ressler KJ, Haas M, Koenen KC. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nature Communications 2019, 10: 4558. PMID: 31594949, PMCID: PMC6783435, DOI: 10.1038/s41467-019-12576-w.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDisease genesAssociation studiesGenome-wide significant lociAfrican-ancestry analysesNon-coding RNAsGenetic risk lociParkinson's disease genesEuropean ancestry populationsNovel genesSignificant lociGenetic variationSpecific lociRisk lociAdditional lociLociAncestry populationsCommon variantsHeritability estimatesGenesGWASRNABiologySNPsPARK2
2017
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder
Martin J, Walters R, Demontis D, Mattheisen M, Lee S, Robinson E, Brikell I, Ghirardi L, Larsson H, Lichtenstein P, Eriksson N, Agee M, Alipanahi B, Auton A, Bell R, Bryc K, Elson S, Fontanillas P, Furlotte N, Hinds D, Hromatka B, Huber K, Kleinman A, Litterman N, McIntyre M, Mountain J, Northover C, Pitts S, Sathirapongsasuti J, Sazonova O, Shelton J, Shringarpure S, Tian C, Tung J, Vacic V, Wilson C, Albayrak Ö, Anney R, Vasquez A, Arranz M, Asherson P, Banaschewski T, Banaschewski T, Bau C, Biederman J, Mortensen P, Børglum A, Buitelaar J, Casas M, Charach A, Cormand B, Crosbie J, Dalsgaard S, Daly M, Demontis D, Dempfle A, Doyle A, Ebstein R, Elia J, Faraone S, Faraone S, Föcker M, Franke B, Freitag C, Gelernter J, Gill M, Grevet E, Haavik J, Hakonarson H, Hawi Z, Hebebrand J, Herpertz-Dahlmann B, Hervas A, Hinney A, Hohmann S, Holmans P, Hutz M, Ickowitz A, Johansson S, Kent L, Kittel-Schneider S, Kranzler H, Kuntsi J, Lambregts-Rommelse N, Langley K, Lehmkuhl G, Lesch K, Loo S, Martin J, McGough J, Medland S, Meyer J, Mick E, Middletion F, Miranda A, Mulas F, Mulligan A, Neale B, Nelson S, Nguyen T, O’Donovan M, Oades R, Owen M, Palmason H, Ramos-Quiroga J, Reif A, Renner T, Rhode L, Ribasés M, Rietschel M, Ripke S, Rivero O, Roeyers H, Romanos M, Romanos J, Mota N, Rothenberger A, Sánchez-Mora C, Schachar R, Schäfer H, Scherag A, Schimmelmann B, Sergeant J, Sinzig J, Smalley S, Sonuga-Barke E, Steinhausen H, Sullivan P, Thapar A, Thompsom M, Todorov A, Waldman I, Walitza S, Walters R, Wang Y, Warnke A, Williams N, Witt S, Yang L, Zayats T, Zhang-James Y, Agerbo E, Als T, Bækved-Hansen M, Belliveau R, Børglum A, Bybjerg-Grauholm J, Cerrato F, Chambert K, Churchhouse C, Dalsgaard S, Daly M, Demontis D, Dumont A, Goldstein J, Grove J, Hansen C, Hauberg M, Hollegaard M, Hougaard D, Howrigan D, Huang H, Maller J, Martin A, Martin J, Mattheisen M, Moran J, Mors O, Mortensen P, Neale B, Nordentoft M, Pallesen J, Palmer D, Pedersen C, Pedersen M, Poterba T, Poulsen J, Ripke S, Robinson E, Satterstrom F, Stevens C, Turley P, Walters R, Werge T, Werge T, Mortensen P, Pedersen M, Mors O, Nordentoft M, Hougaard D, Bybjerg-Grauholm J, Wray N, Franke B, Faraone S, O’Donovan M, Thapar A, Børglum A, Neale B. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biological Psychiatry 2017, 83: 1044-1053. PMID: 29325848, PMCID: PMC5992329, DOI: 10.1016/j.biopsych.2017.11.026.Peer-Reviewed Original Research
2014
Rare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors
McClure-Begley TD, Papke RL, Stone KL, Stokes C, Levy AD, Gelernter J, Xie P, Lindstrom J, Picciotto MR. Rare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors. Journal Of Pharmacology And Experimental Therapeutics 2014, 348: 410-420. PMID: 24385388, PMCID: PMC3935145, DOI: 10.1124/jpet.113.209767.Peer-Reviewed Original ResearchConceptsNicotinic acetylcholine receptorsRare variantsSingle amino acid substitutionLaevis oocytesAmino acid substitutionsΑ4β2 nAChRsAcetylcholine receptorsIntracellular interactomesHEK-293 cellsX. laevis oocytesProteomic analysisGenetic variationHuman α4β2 nAChRsXenopus laevis oocytesVoltage-clamp electrophysiologyNeuronal nicotinic acetylcholine receptorsHigh-affinity nicotinic acetylcholine receptorsSubcellular distributionAcid substitutionsΑ4 nAChR subunitCohort of smokersEffects of nicotineNAChR subunitsCommon variantsΑ4 nAChR
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 ADVariantsDeep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence
Xie P, Kranzler HR, Krystal JH, Farrer LA, Zhao H, Gelernter J. Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence. Addiction Biology 2013, 19: 955-964. PMID: 23855403, PMCID: PMC3815683, DOI: 10.1111/adb.12072.Peer-Reviewed Original ResearchConceptsOpioid dependenceSubstance dependenceRare variantsN-methyl-D-aspartate (NMDA) glutamate receptorsCo-occurring alcohol dependenceHealthy control subjectsControl subjectsNMDA systemOpioid abuseGlutamate receptorsSchizophrenia risk genesSD riskAlcohol dependenceSignificant associationCocaine dependenceAdditional subjectsOD riskRisk genesDISC1African AmericansFirst demonstrationCommon variantsRiskSubjectsMinor allele frequency
2012
Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index
Wang F, Gelernter J, Kranzler HR, Zhang H. Identification of POMC Exonic Variants Associated with Substance Dependence and Body Mass Index. PLOS ONE 2012, 7: e45300. PMID: 23028917, PMCID: PMC3444488, DOI: 10.1371/journal.pone.0045300.Peer-Reviewed Original ResearchConceptsBody mass indexSubstance dependenceMass indexExact testRare variantsAfrican AmericansNormal weight groupCommon variantsFisher's exact testProopiomelanocortin geneObese groupObese subjectsExonic variantsMelanocortin peptidesEuropean AmericansLogistic regressionCommon polymorphismsOverweightRare exonic variantsVariants AssociatedPopulation-specific mannerRiskAssociationObesityGroup
2000
Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence
Gelernter J, Kranzler H. Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence. Human Genetics 2000, 107: 86-88. PMID: 10982041, DOI: 10.1007/s004390000340.Peer-Reviewed Original ResearchConceptsPopulation geneticsProtein sequencesPopulation genetic dataAmino acid sequenceNovel variantsΔ locusAcid sequenceGenetic dataReceptor locusExon 1LociReceptor geneOpioid receptor geneCommon variantsEuropean populationsAllele frequenciesGeneticsVariant detectionSequenceAllelesOpioid dependenceVariantsPhysiologic effectsG alleleSubstance dependence