2025
Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment
Seah C, Sidamon-Eristoff A, Huckins L, Brennand K. Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment. Journal Of Clinical Investigation 2025, 135: e185102. PMID: 40026250, PMCID: PMC11870735, DOI: 10.1172/jci185102.Peer-Reviewed Original ResearchConceptsPost-traumatic stress disorderGene x environment interactionsGenetic component of riskLimitations of genetic studiesTreating post-traumatic stress disorderExposure to traumatic stressPost-traumatic stress disorder riskInteraction of traumaGenetic screeningGenetic studiesGenetic componentEnvironment interactionMolecular mechanismsStress disorderPTSD riskTraumatic exposureTraumatic stressTraumatic experiencesDisorder riskGenetic factorsNovel therapeuticsBiological mechanismsGWASGeneral populationGenes
2024
23. GENOME-WIDE ASSOCIATION STUDIES OF BINGE-EATING BEHAVIOUR AND ANOREXIA NERVOSA YIELD INSIGHTS INTO THE UNIQUE AND SHARED BIOLOGY OF EATING DISORDER PHENOTYPES
Huckins L, Termorshuizen J, Davies H, Lee S, Johnson J, Munn-Chernoff M, Thornton L, Källberg J, Bulik C, Breen G, Coleman J. 23. GENOME-WIDE ASSOCIATION STUDIES OF BINGE-EATING BEHAVIOUR AND ANOREXIA NERVOSA YIELD INSIGHTS INTO THE UNIQUE AND SHARED BIOLOGY OF EATING DISORDER PHENOTYPES. European Neuropsychopharmacology 2024, 87: 60. DOI: 10.1016/j.euroneuro.2024.08.137.Peer-Reviewed Original ResearchGenome-wide association studiesIdentification of novel lociGenome-wide association study meta-analysisGenetic correlationsEating Disorders Working GroupBinge-eating behaviorNovel lociGenome-wideGenomic lociAssociation studiesLociGenetic componentEating disorder phenotypesPhenotypeEarly onset obesityBE phenotypeSevere early onset obesityDisorder phenotypesTrans-diagnosticAN subtypesAN-BPAN-RAN-R.Eating DisordersBinge-eating/purgingShared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis
Lu Z, Ploner A, Birgegård A, Adan R, Alfredsson L, Ando T, Andreassen O, Baker J, Bergen A, Berrettini W, Birgegård A, Boden J, Boehm I, Perica V, Brandt H, Breen G, Bryois J, Buehren K, Bulik C, Burghardt R, Cassina M, Cichon S, Coleman J, Cone R, Courtet P, Crawford S, Crow S, Crowley J, Danner U, Davis O, de Zwaan M, Dedoussis G, DeSocio J, Dick D, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan L, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fischer K, Föcker M, Foretova L, Forstner A, Forzan M, Franklin C, Gallinger S, Giegling I, Giusti-Rodríguez P, Gonidakis F, Gordon S, Gorwood P, Mayora M, Grove J, Guillaume S, Guo Y, Hakonarson H, Halmi K, Hanscombe K, Hatzikotoulas K, Hauser J, Hebebrand J, Helder S, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Horwood L, Hübel C, Huckins L, Hudson J, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Johnson C, Jordan J, Julià A, Kalsi G, Kaminská D, Kaplan A, Kaprio J, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy J, Kennedy M, Keski-Rahkonen A, Kiezebrink K, Kim Y, Klareskog L, Klump K, Landén M, Larsen J, Le Hellard S, Leppä V, Li D, Lichtenstein P, Lilenfeld L, Lin B, Lissowska J, Luykx J, Maj M, Marsal S, Martin N, Mattheisen M, Mattingsdal M, Medland S, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Mitchell J, Monteleone A, Monteleone P, Mortensen P, Munn-Chernoff M, Nacmias B, Navratilova M, Ntalla I, Olsen C, Ophoff R, Padyukov L, Pantel J, Papezova H, Parker R, Pearson J, Pedersen N, Petersen L, Pinto D, Purves K, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ripke S, Ritschel F, Roberts M, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer S, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Landt M, Slopien A, Sorbi S, Strober M, Sullivan P, Świątkowska B, Szatkiewicz J, Tenconi E, Thornton L, Tortorella A, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, van Elburg A, van Furth E, Wade T, Wagner G, Watson H, Werge T, Whiteman D, Widen E, Woodside D, Yao S, Yilmaz Z, Zeggini E, Zerwas S, Zipfel S, Breen G, Bulik C, Bulik C, Bergen S. Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis. Schizophrenia Bulletin 2024, 50: 1255-1265. PMID: 38848516, PMCID: PMC11349005, DOI: 10.1093/schbul/sbae087.Peer-Reviewed Original ResearchPolygenic overlapConditional/conjunctional false discovery rateGenome-wide association studiesGenome-wide analysisConcordant effect directionsProportion of variantsNovel lociFalse discovery rateFunctional annotationGenetic architectureGenetic enrichmentAssociation studiesMultiple genesSynapse organizationMendelian randomization analysisGenetic associationCo-aggregationLociGenetic componentGenetic etiologyAnorexia nervosaFamilial co-aggregationDiscovery rateGenetic factorsRandomization analysisWhole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls T, Andersen S, Zmuda J, Thyagarajan B, Yashin A, Wojczynski M, Krinsky‐McHale S, Handen B, Christian B, Head E, Mapstone M, Schupf N, Lee J, Barral S, Study T, Abner E, Adams P, Aguirre A, Albert M, Albin R, Allen M, Alvarez L, Andrews H, Apostolova L, Arnold S, Asthana S, Atwood C, Ayres G, Barber R, Barnes L, Barral S, Bartlett J, Beach T, Becker J, Beecham G, Benchek P, Bennett D, Bertelson J, Biber S, Bird T, Blacker D, Boeve B, Bowen J, Boxer A, Brewer J, Burke J, Burns J, Bush W, Buxbaum J, Byrd G, Cantwell L, Cao C, Carlsson C, Carrasquillo M, Chan K, Chasse S, Chen Y, Chesselet M, Chin N, Chui H, Chung J, Craft S, Crane P, Cranney M, Cruchaga C, Cuccaro M, Culhane J, Cullum C, Darby E, Davis B, De Jager P, DeCarli C, DeToledo J, Dickson D, Dobbins N, Duara R, Ertekin‐Taner N, Evans D, Faber K, Fairchild T, Fallin D, Fallon K, Fardo D, Farlow M, Farrell J, Farrer L, Fernandez‐Hernandez V, Foroud T, Frosch M, Galasko D, Gamboa A, Gauthreaux K, Gefen T, Geschwind D, Ghetti B, Gilbert J, Goate A, Grabowski T, Graff‐Radford N, Griswold A, Haines J, Hakonarson H, Hall K, Hall J, Hamilton R, Hamilton‐Nelson K, Han X, Harari O, Hardy J, Harrell L, Head E, Henderson V, Hernandez M, Honig L, Huebinger R, Huentelman M, Hulette C, Hyman B, Hynan L, Ibanez L, Jarvik G, Jayadev S, Jin L, Johnson K, Johnson L, Jones B, Jun G, Kamboh M, Kang M, Karydas A, Katz M, Kauwe J, Kaye J, Keene C, Keller B, Khaleeq A, Kim R, Knebl J, Kowall N, Kramer J, Kukull W, Kunkle B, Kuzma A, LaFerla F, Lah J, Larson E, Lerch M, Lerner A, Leung Y, Leverenz J, Levey A, Lieberman A, Lipton R, Lopez O, Lunetta K, Lyketsos C, Mains D, Manly J, Mark L, Marquez D, Marson D, Martin E, Masliah E, Massman P, Masurkar A, Mayeux R, McCormick W, McCurry S, McDonough S, McKee A, Mesulam M, Mez J, Miller B, Miller C, Mock C, Moghekar A, Montine T, Monuki E, Mooney S, Morris J, Mukherjee S, Myers A, Naj A, Nguyen T, Noble J, Nudelman K, O'Bryant S, Ormsby K, Ory M, Palmer R, Parisi J, Paulson H, Pavlik V, Paydarfar D, Perez V, Pericak‐Vance M, Petersen R, Polk M, Qu L, Quiceno M, Quinn J, Raj A, Rajabli F, Ramanan V, Reiman E, Reisch J, Reitz C, Ringman J, Roberson E, Rodriguear M, Rogaeva E, Rosen H, Rosenberg R, Royall D, Sano M, Saykin A, Schellenberg G, Schneider J, Schneider L, Seeley W, Sherva R, Shibata D, Small S, Smith A, Smith J, Song Y, Spina S, St George‐Hyslop P, Stern R, Stevens A, Strittmatter S, Sultzer D, Swerdlow R, Teich A, Tilson J, Tosto G, Trojanowski J, Troncoso J, Tsuang D, Valladares O, Van Deerlin V, Van Dyck C, Van Eldik L, Vance J, Vardarajan B, Vassar R, Vinters H, Wang L, Weintraub S, Welsh‐Bohmer K, Wheeler N, Wijsman E, Wilhelmsen K, Williams B, Williamson J, Wilms H, Wingo T, Wisniewski T, Woltjer R, Woon M, Younkin S, Yu L, Zhao Y, Zhou X, Zhu C, Aizenstein H, Ances B, Andrews H, Bell K, Birn R, Brickman A, Bulova P, Cheema A, Chen K, Christian B, Clare I, Cohen A, Constantino J, Doran E, Fagan A, Feingold E, Foroud T, Handen B, Harp J, Hartley S, Head E, Henson R, Hom C, Honig L, Ikonomovic M, Johnson S, Jordan C, Kamboh M, Keator D, Klunk W, Kofler J, Krinsky‐McHale S, Lai F, Lao P, Laymon C, Lee J, Lott I, Lupson V, Mapstone M, Mathis C, Minhas D, Nadkarni N, O'Bryant S, Parisi M, Pang D, Petersen M, Price J, Pulsifer M, Rafii M, Reiman E, Rizvi B, Rosas H, Ryan L, Schmitt F, Schupf N, Silverman W, Tudorascu D, Tumuluru R, Varadarajan B, White D, Yassa M, Zaman S, Zhang F. Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease. Alzheimer's & Dementia 2024, 20: 2670-2679. PMID: 38380866, PMCID: PMC11032545, DOI: 10.1002/alz.13718.Peer-Reviewed Original ResearchConceptsLate-onset Alzheimer's diseaseGenes associated with late-onset Alzheimer's diseaseLate-onset Alzheimer's disease riskSeveral single nucleotide polymorphismsVariants associated with late-onset Alzheimer diseaseBeta-amyloidIdentified several single nucleotide polymorphismsWhole-genome sequence analysisGenome sequence analysisLevels of beta-amyloidAlzheimer's diseaseTight linkage disequilibriumMicrotubule associated proteinSingle nucleotide polymorphismsFamily studiesCandidate lociMTUS2Linkage disequilibriumSequence analysisAssociation analysisNucleotide polymorphismsGenetic associationAlzheimer's dementiaAssociated proteinGenetic component
2023
Brn3b regulates the formation of fear-related midbrain circuits and defensive responses to visual threat
Lee H, Weinberg-Wolf H, Lee H, Lee T, Conte J, Godoy-Parejo C, Demb J, Rudenko A, Kim IJ. Brn3b regulates the formation of fear-related midbrain circuits and defensive responses to visual threat. PLOS Biology 2023, 21: e3002386. PMID: 37983249, PMCID: PMC10695396, DOI: 10.1371/journal.pbio.3002386.Peer-Reviewed Original ResearchConceptsTranscription factor Brn3bLoss of neuronsVisual threatLateral posterior nucleusMutant mice displayDefensive responsesDefensive freezing responsesPosterior nucleusTachykinin 2Mice displayMidbrain circuitVisual circuitsNeural circuitryBrn3bSpecific genetic componentsFreezing responseFear-associated behaviorsSocial isolationTac2Behavioral phenotypesMolecular mechanismsFunctional organizationGenetic componentResponseSimilar mechanismDecentralized Parallel Independent Component Analysis for Multimodal, Multisite Data
Panichvatana C, Chen J, Baker B, Thapaliya B, Calhoun V, Liu J. Decentralized Parallel Independent Component Analysis for Multimodal, Multisite Data. Annual International Conference Of The IEEE Engineering In Medicine And Biology Society (EMBC) 2023, 00: 1-4. PMID: 38083130, DOI: 10.1109/embc40787.2023.10340070.Peer-Reviewed Original ResearchVariants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population
DeWan A, Cahill M, Cornejo-Sanchez D, Li Y, Dong Z, Fabiha T, Sun H, Wang G, Leal S. Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population. Frontiers In Genetics 2023, 14: 1129389. PMID: 37377600, PMCID: PMC10291233, DOI: 10.3389/fgene.2023.1129389.Peer-Reviewed Original ResearchComplex traitsGenome-wide significant variantsFine-mapping analysisGenomic regionsMajor genetic componentAssociation analysisSusceptibility variantsGenetic componentSignificant variantsGenetic variantsSuggestive associationTraitsPhenotypeVariantsBiobank dataGenesNon-overlapping regionsRegionJAZF1Univariate association analysisType 2 diabetesGenetic Decomposition of the Heritable Component of Reported Childhood Maltreatment
Kuile A, Hübel C, Cheesman R, Coleman J, Peel A, Levey D, Stein M, Gelernter J, Rayner C, Eley T, Breen G. Genetic Decomposition of the Heritable Component of Reported Childhood Maltreatment. Biological Psychiatry Global Open Science 2023, 3: 716-724. PMID: 37881567, PMCID: PMC10593925, DOI: 10.1016/j.bpsgos.2023.03.003.Peer-Reviewed Original ResearchGenetic componentGenomic structural equationGenome-wide association study summary statisticsCommon genetic variantsResidual genetic varianceGeneral risk toleranceGenetic variancePutative traitsHeritable componentBehavioral traitsGenetic correlationsTraitsGenetic variantsHeritable characteristicsHeritable factorsHeritabilityEnvironmental factorsDecades of researchGenetic influencesSummary statisticsPhenotype
2021
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.
Kyei-Barffour I, Margetts M, Vash-Margita A, Pelosi E. The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors. The Yale Journal Of Biology And Medicine 2021, 94: 657-672. PMID: 34970104, PMCID: PMC8686787.Peer-Reviewed Original ResearchConceptsMRKH syndromeClinical presentationMayer-RokitanskyEmbryonic developmentEnvironmental factorsEpigenetic changesFunctional validationCandidate genesGenetic analysisMolecular mechanismsDevelopmental pathwaysKüster-Hauser syndromeEarly organogenesisKuster-Hauser syndromeKey pathwaysGenetic componentInheritance patternEnvironmental compoundsIncomplete penetranceClinical managementDiscordant phenotypesEarly diagnosisAnimal modelsGeneticsTranslational studiesS63 Genome-wide sex-by-SNP interaction analysis of susceptibility to idiopathic pulmonary fibrosis
Leavy O, Allen R, Oldham J, Guillen-Guio B, Stockwell A, Braybrooke R, Hubbard R, Ma S, Fingerlin T, Kaminski N, Zhang Y, Schwartz D, Yaspan B, Maher T, Molyneaux P, Flores C, Noth I, Jenkins R, Wain L. S63 Genome-wide sex-by-SNP interaction analysis of susceptibility to idiopathic pulmonary fibrosis. Thorax 2021, 76: a42-a42. DOI: 10.1136/thorax-2021-btsabstracts.69.Peer-Reviewed Original ResearchGenome-wide association studiesSNP interaction analysisIPF susceptibilityGenetic determinantsIndependent variantsIPF riskDifferent biological pathwaysGenetic lociSuggestive statistical significancePromoter regionBiological pathwaysAssociation studiesCommon genetic risk factorCase-control data setsGenetic componentIndependent datasetsInteraction analysisSignificant variantsSignificance thresholdBiological mechanismsSNP interactionsGenetic risk factorsEuropean descentFurther insightVariantsGenes related to SNPs identified by Genome-wide association studies of age-related hearing loss show restriction to specific cell types in the adult mouse cochlea
Xue N, Song L, Song Q, Santos-Sacchi J, Wu H, Navaratnam D. Genes related to SNPs identified by Genome-wide association studies of age-related hearing loss show restriction to specific cell types in the adult mouse cochlea. Hearing Research 2021, 410: 108347. PMID: 34536825, DOI: 10.1016/j.heares.2021.108347.Peer-Reviewed Original ResearchConceptsSingle-cell RNA sequencingApical cell polarityGenome-wide association studiesAdult mouse cochleaSpecific cell typesCell polaritySubtypes of cellsSignificant genetic componentSingle nucleotide polymorphismsVesicle recyclingRNA sequencingAssociation studiesGenesVarying ExpressionCell typesGenetic componentNucleotide polymorphismsSNPsMouse cochleaCell functionGenesetsHair cellsHair cell functionSignificant overlapExpressionAccelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Iwaki H, Leonard H, Makarious M, Bookman M, Landin B, Vismer D, Casey B, Gibbs J, Hernandez D, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard C, Sadeghi M, Dong X, Misquitta L, Scholz S, Scherzer C, Nalls M, Biswas S, Singleton A, Associates U, Group A, consortium A. Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. Movement Disorders 2021, 36: 1795-1804. PMID: 33960523, PMCID: PMC8453903, DOI: 10.1002/mds.28549.Peer-Reviewed Original ResearchConceptsWhole-genome sequencing dataSequence dataAnalysis of whole-genome sequencing dataParkinson's Disease programPolygenic risk scoresDiagnosis of participantsIdiopathic PD groupAshkenazi Jewish ancestryEvidence of dopamine deficitRNA expression dataDemocratize data accessDisease programsExpression dataCohort studyGBA variantsRisk scoreJoint genotypesPathogenic variantsPD research communityParkinson's diseaseGenetic componentLRRK2 variantsJewish ancestryPD subjectsCohortGenetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region
Mestiri S, Boussetta S, Pakstis AJ, Elkamel S, Elgaaied ABA, Kidd KK, Cherni L. Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region. Gene 2021, 777: 145466. PMID: 33524518, DOI: 10.1016/j.gene.2021.145466.Peer-Reviewed Original ResearchMeSH KeywordsAdultAfrica, NorthernAllelesBlack PeopleEthnicityFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenomicsGenotypeGenotyping TechniquesHaplotypesHeterozygoteHuman MigrationHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptors, Dopamine D2ConceptsNorth African populationsGenetic diversitySingle nucleotide polymorphismsGenetic structureAncestral gene poolPeculiar genetic structureLowest average heterozygosityNorth African onesAfrican populationsHigh linkage disequilibriumGenetic driftGenomic regionsAverage heterozygosityGene poolSame locusLinkage disequilibriumDisequilibrium analysisGenetic componentGenesNucleotide polymorphismsLociReceptor geneDiversityHuman populationEuropean populations
2020
A large-scale genome-wide association study meta-analysis of cannabis use disorder
Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Wendt FR, Clarke TK, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu SA, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley RP, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MM, Vrieze S, Workgroup P, Walters R, Polimanti R, Johnson E, McClintick J, Hatoum A, He J, Wendt F, Zhou H, Adams M, Adkins A, Aliev F, Bacanu S, Batzler A, Bertelsen S, Biernacka J, Bigdeli T, Chen L, Clarke T, Chou Y, Degenhardt F, Docherty A, Edwards A, Fontanillas P, Foo J, Fox L, Frank J, Giegling I, Gordon S, Hack L, Hartmann A, Hartz S, Heilmann-Heimbach S, Herms S, Hodgkinson C, Hoffman P, Hottenga J, Kennedy M, Alanne-Kinnunen M, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher B, Mbarek H, McIntosh A, McQueen M, Meyers J, Milaneschi Y, Palviainen T, Pearson J, Peterson R, Ripatti S, Ryu E, Saccone N, Salvatore J, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang J, Webb B, Wedow R, Wetherill L, Wills A, Boardman J, Chen D, Choi D, Copeland W, Culverhouse R, Dahmen N, Degenhardt L, Domingue B, Elson S, Frye M, Gäbel W, Hayward C, Ising M, Keyes M, Kiefer F, Kramer J, Kuperman S, Lucae S, Lynskey M, Maier W, Mann K, Männistö S, Müller-Myhsok B, Murray A, Nurnberger J, Palotie A, Preuss U, Räikkönen K, Reynolds M, Ridinger M, Scherbaum N, Schuckit M, Soyka M, Treutlein J, Witt S, Wodarz N, Zill P, Adkins D, Boden J, Boomsma D, Bierut L, Brown S, Bucholz K, Cichon S, Costello E, de Wit H, Diazgranados N, Dick D, Eriksson J, Farrer L, Foroud T, Gillespie N, Goate A, Goldman D, Grucza R, Hancock D, Harris K, Heath A, Hesselbrock V, Hewitt J, Hopfer C, Horwood J, Iacono W, Johnson E, Kaprio J, Karpyak V, Kendler K, Kranzler H, Krauter K, Lichtenstein P, Lind P, McGue M, MacKillop J, Madden P, Maes H, Magnusson P, Martin N, Medland S, Montgomery G, Nelson E, Nöthen M, Palmer A, Pederson N, Penninx B, Porjesz B, Rice J, Rietschel M, Riley B, Rose R, Rujescu D, Shen P, Silberg J, Stallings M, Tarter R, Vanyukov M, Vrieze S, Wall T, Whitfield J, Zhao H, Neale B, Gelernter J, Edenberg H, Agrawal A, Davis L, Bogdan R, Gelernter J, Edenberg H, Stefansson K, Børglum A, Agrawal A. A large-scale genome-wide association study meta-analysis of cannabis use disorder. The Lancet Psychiatry 2020, 7: 1032-1045. PMID: 33096046, PMCID: PMC7674631, DOI: 10.1016/s2215-0366(20)30339-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenome-wide significant lociLarge-scale genome-wide association studiesGenetic correlationsChromosome 7 locusTraits of interestLarge genome-wide association studiesLinkage disequilibrium score regressionChromosome 8 locusDifferent genetic underpinningsDifferent genetic correlationsWellcome Trust Case Control ConsortiumDisequilibrium score regressionNovel genetic variantsStrong genetic componentSignificant lociGenetic lociGenetic underpinningsGenetic componentLociScore regressionGenetic variantsGenetic overlapIntegrative sequencing
2019
Genome-wide association study implicates CHRNA2 in cannabis use disorder
Demontis D, Rajagopal V, Thorgeirsson T, Als T, Grove J, Leppälä K, Gudbjartsson D, Pallesen J, Hjorthøj C, Reginsson G, Tyrfingsson T, Runarsdottir V, Qvist P, Christensen J, Bybjerg-Grauholm J, Bækvad-Hansen M, Huckins L, Stahl E, Timmermann A, Agerbo E, Hougaard D, Werge T, Mors O, Mortensen P, Nordentoft M, Daly M, Stefansson H, Stefansson K, Nyegaard M, Børglum A. Genome-wide association study implicates CHRNA2 in cannabis use disorder. Nature Neuroscience 2019, 22: 1066-1074. PMID: 31209380, PMCID: PMC7596896, DOI: 10.1038/s41593-019-0416-1.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAllelesAttention Deficit Disorder with HyperactivityBrainCase-Control StudiesChromosomes, Human, Pair 8CognitionCohort StudiesConfounding Factors, EpidemiologicDenmarkEducational StatusFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIcelandMaleMarijuana AbuseMultifactorial InheritanceNerve Tissue ProteinsPolymorphism, Single NucleotideQuantitative Trait LociReceptors, NicotinicSchizophreniaSmokingTranscriptomeConceptsCannabis use disorderGenome-wide association studiesGenome-wide significant risk lociUse disorderExpression quantitative trait lociGenetically regulated gene expressionRisk of cannabis use disorderSignificant risk lociQuantitative trait lociTwin heritabilityPolygenic levelGenetic architectureRisk lociTrait lociAssociation studiesBiological insightsCognitive performanceIllicit psychoactive substancesGene expressionGenetic componentCannabisIndependent populationsPsychoactive substancesLociIndex variantsMultivariate Analyses Reveal Biological Components Related to Neuronal Signaling and Immunity Mediating Electroencephalograms Abnormalities in Alcohol‐Dependent Individuals from the Collaborative Study on the Genetics of Alcoholism Cohort
Meda SA, Narayanan B, Chorlian D, Meyers JL, Gelernter J, Hesselbrock V, Bauer L, Calhoun VD, Porjesz B, Pearlson G. Multivariate Analyses Reveal Biological Components Related to Neuronal Signaling and Immunity Mediating Electroencephalograms Abnormalities in Alcohol‐Dependent Individuals from the Collaborative Study on the Genetics of Alcoholism Cohort. Alcohol Clinical And Experimental Research 2019, 43: 1462-1477. PMID: 31009096, DOI: 10.1111/acer.14063.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlcoholismCase-Control StudiesCohort StudiesElectroencephalographyFemaleGenetic Association StudiesGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedMultigene FamilyNeuronsPhenotypePolymorphism, Single NucleotideSignal TransductionSubstance-Related DisordersWhite PeopleYoung AdultConceptsGenetic clustersSingle nucleotide polymorphism dataSignificant genotype-phenotype associationsNucleotide polymorphism dataLipid/cholesterol metabolismLinkage-based analysisGenotype-phenotype relationshipsGenotype-phenotype associationsGene clusterCell signalingPolymorphism dataMolecular mechanismsAlcoholism datasetGenomewide associationTop hitsGenetic componentNeuronal signalingGeneticsSignalingBiological componentsRelationship pairsCholesterol metabolismNeurogenesisSNP componentParallel independent component analysis
2018
Meta‐Analysis of Genetic Influences on Initial Alcohol Sensitivity
Edwards A, Deak J, Gizer I, Lai D, Chatzinakos C, Wilhelmsen K, Lindsay J, Heron J, Hickman M, Webb B, Bacanu S, Foroud T, Kendler K, Dick D, Schuckit M. Meta‐Analysis of Genetic Influences on Initial Alcohol Sensitivity. Alcohol Clinical And Experimental Research 2018, 42: 2349-2359. PMID: 30276832, PMCID: PMC6286211, DOI: 10.1111/acer.13896.Peer-Reviewed Original ResearchConceptsCore clock genesClock genesTissue-specific expression dataPopulation-based genome-wide association studiesGenome-wide association studiesGenome-wide significanceGene identification effortsSignificant genetic correlationsMolecular genetic studiesHormone signalingSingle nucleotide polymorphismsIndividual lociGenetic analysisAssociation studiesGenetic studiesExpression dataGenesGenetic componentGenetic correlationsNucleotide polymorphismsHeritabilityAlcohol sensitivityGenetic factorsLow initial sensitivityGenetic influencesCharacterization of Sex-Based Dna Methylation Signatures in the Airways During Early Life
Nino C, Perez G, Isaza N, Gutierrez M, Gomez J, Nino G. Characterization of Sex-Based Dna Methylation Signatures in the Airways During Early Life. Scientific Reports 2018, 8: 5526. PMID: 29615635, PMCID: PMC5882800, DOI: 10.1038/s41598-018-23063-5.Peer-Reviewed Original ResearchConceptsX-linked genesDNA methylation signaturesDifferential methylationMethylation signaturesGenome-wide DNA methylationProtein coding transcriptsX chromosome dosageX-chromosome methylationEpigenomic marksMethylation patternsX chromosomeDNA methylationCpG sitesGenomic signaturesX-inactivationGenetic componentCoding transcriptsGenesMethylation signalsAirways of infantsInfants aged 1Independent populationsRespiratory phenotypeAirway expressionIndividual's sex
2016
A Modular Assembly Platform for Rapid Generation of DNA Constructs
Akama-Garren EH, Joshi NS, Tammela T, Chang GP, Wagner BL, Lee DY, Rideout III W, Papagiannakopoulos T, Xue W, Jacks T. A Modular Assembly Platform for Rapid Generation of DNA Constructs. Scientific Reports 2016, 6: 16836. PMID: 26887506, PMCID: PMC4757859, DOI: 10.1038/srep16836.Peer-Reviewed Original ResearchConceptsAssembly platformDNA constructsInducible lentiviral systemCollection of promotersGeneration of knockTraditional cloning methodsGenetic screenRecombinant DNA technologyRNAi constructsGenomic elementsGenetic toolsSynthetic biologySynthetic promotersDNA fragmentsCloning methodGenetic componentDNA technologyTumor initiationLentiviral systemOne-step productionViral constructsPromoterRapid generationGMAPAssemblyIL4 gene polymorphisms in Iranian patients with autoimmune hepatitis
Yousefi A, Mahmoudi E, Bidoki A, Varzaneh F, Noveiry B, Sadr M, Motamed F, Najafi M, Farahmand F, Rezaei N. IL4 gene polymorphisms in Iranian patients with autoimmune hepatitis. Expert Review Of Gastroenterology & Hepatology 2016, 10: 659-663. PMID: 26735262, DOI: 10.1586/17474124.2016.1139449.Peer-Reviewed Original ResearchConceptsAutoimmune hepatitisC alleleAssociation of autoimmune hepatitisMechanisms of autoimmune hepatitisAutoimmune hepatitis patientsAllelic polymorphismInvestigate potential associationsPotential therapeutic interventionsHepatocellular inflammationAuto-antibodiesTT genotypeCC genotypeGene polymorphismsIranian patientsIL4 geneGene variantsIL4RA geneSusceptibility genesIL4Therapeutic interventionsHepatitisPatientsGenetic componentGenesPolymorphism
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