2025
Solvent exposure, genetic susceptibility, and risk of bladder cancer.
Tadesse D, Rothman N, Xie S, Hurwitz L, Friesen M, Baris D, Schwenn M, Johnson A, Karagas M, Silverman D, Koutros S. Solvent exposure, genetic susceptibility, and risk of bladder cancer. Cancer Prevention Research 2025, of1-of8. PMID: 39995157, DOI: 10.1158/1940-6207.capr-24-0434.Peer-Reviewed Original ResearchBladder cancer riskRisk of bladder cancerNew England Bladder Cancer StudyCancer riskPopulation-based case-control studyOdds ratioIncreased bladder cancer riskIncreased risk of bladder cancerConfidence intervalsCumulative exposure to benzeneCancer susceptibility lociJob-exposure matrixCalculate odds ratiosBladder cancerLifetime occupational exposureGenetic risk variantsCase-control studyMultivariate logistic regressionBladder Cancer StudyExposure to benzeneSusceptibility lociLogistic regressionOccupational historyRisk variantsCancer studies
2024
Phosphoglycerate kinase is a central leverage point in Parkinson’s disease–driven neuronal metabolic deficits
Kokotos A, Antoniazzi A, Unda S, Ko M, Park D, Eliezer D, Kaplitt M, De Camilli P, Ryan T. Phosphoglycerate kinase is a central leverage point in Parkinson’s disease–driven neuronal metabolic deficits. Science Advances 2024, 10: eadn6016. PMID: 39167658, PMCID: PMC11338267, DOI: 10.1126/sciadv.adn6016.Peer-Reviewed Original ResearchConceptsPhosphoglycerate kinase 1Metabolic deficitsExpressions of Phosphoglycerate Kinase 1Dopamine axonsParkinson's diseasePD-associated pathologyViral expressionLoss of functionNeuronal glycolysisSusceptibility lociIn vivoFamilial Parkinson's diseasePD therapeuticsMetabolic lesionsProduction kineticsKinase 1Mitochondrial integrityPhosphoglycerate kinaseBioenergetic deficitsSynaptic dysfunctionGenetic originDeficitsPARK7/DJ-1PhosphoglycerateA small-molecule allele-selective transcriptional inhibitor of the MIF immune susceptibility locus
Li J, Leng L, Pantouris G, Manjula R, Piecychna M, Abriola L, Hu B, Lolis E, Armstrong M, Donnelly S, Bucala R. A small-molecule allele-selective transcriptional inhibitor of the MIF immune susceptibility locus. Journal Of Biological Chemistry 2024, 300: 107443. PMID: 38838773, PMCID: PMC11259703, DOI: 10.1016/j.jbc.2024.107443.Peer-Reviewed Original ResearchPromoter microsatellitesGene expressionMicrosatellite repeat numberMacrophage migration inhibitory factorLength-dependent mannerRNA expression analysisSusceptibility lociFunctional variantsSmall molecule inhibitorsExpression analysisPharmacogenomic developmentRepeat numberMicrosatelliteFunctional interactionsTranscription inhibitorInflammatory gene expressionMIF mRNA expressionCytokine macrophage migration inhibitory factorTranscriptionGenesProtein expressionMigration inhibitory factorExpressionInhibitory factorExpressing macrophagesIntegrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
Dareng E, Coetzee S, Tyrer J, Peng P, Rosenow W, Chen S, Davis B, Dezem F, Seo J, Nameki R, Reyes A, Aben K, Anton-Culver H, Antonenkova N, Aravantinos G, Bandera E, Freeman L, Beckmann M, Beeghly-Fadiel A, Benitez J, Bernardini M, Bjorge L, Black A, Bogdanova N, Bolton K, Brenton J, Budzilowska A, Butzow R, Cai H, Campbell I, Cannioto R, Chang-Claude J, Chanock S, Chen K, Chenevix-Trench G, Group A, Chiew Y, Cook L, DeFazio A, Dennis J, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Ene G, Fasching P, Flanagan J, Fortner R, Fostira F, Gentry-Maharaj A, Giles G, Goodman M, Gronwald J, Haiman C, Håkansson N, Heitz F, Hildebrandt M, Høgdall E, Høgdall C, Huang R, Jensen A, Jones M, Kang D, Karlan B, Karnezis A, Kelemen L, Kennedy C, Khusnutdinova E, Kiemeney L, Kjaer S, Kupryjanczyk J, Labrie M, Lambrechts D, Larson M, Le N, Lester J, Li L, Lubiński J, Lush M, Marks J, Matsuo K, May T, McLaughlin J, McNeish I, Menon U, Missmer S, Modugno F, Moffitt M, Monteiro A, Moysich K, Narod S, Nguyen-Dumont T, Odunsi K, Olsson H, Onland-Moret N, Park S, Pejovic T, Permuth J, Piskorz A, Prokofyeva D, Riggan M, Risch H, Rodríguez-Antona C, Rossing M, Sandler D, Setiawan V, Shan K, Song H, Southey M, Steed H, Sutphen R, Swerdlow A, Teo S, Terry K, Thompson P, Thomsen L, Titus L, Trabert B, Travis R, Tworoger S, Valen E, Van Nieuwenhuysen E, Edwards D, Vierkant R, Webb P, Group O, Weinberg C, Weise R, Wentzensen N, White E, Winham S, Wolk A, Woo Y, Wu A, Yan L, Yannoukakos D, Zeinomar N, Zheng W, Ziogas A, Berchuck A, Goode E, Huntsman D, Pearce C, Ramus S, Sellers T, Consortium T, Freedman M, Lawrenson K, Schildkraut J, Hazelett D, Plummer J, Kar S, Jones M, Pharoah P, Gayther S. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions. American Journal Of Human Genetics 2024, 111: 1061-1083. PMID: 38723632, PMCID: PMC11179261, DOI: 10.1016/j.ajhg.2024.04.011.Peer-Reviewed Original ResearchTranscriptome-wide association studyRisk lociAssociation studiesTranscription factor ChIP-seqSusceptibility genesGenome-wide association analysisGenome-wide association studiesCausal risk variantsControls of European originTranscriptome-wide associationEpithelial ovarian cancerVariant Effect PredictorIntegrative multi-omics analysisMulti-omics analysisChIP-seqChromatin marksGenomic regionsFine-mappingSusceptibility lociInteractome analysisAssociation analysisEpithelial ovarian cancer histotypesRisk variantsTissue-specificLoci
2023
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Wang A, Shen J, Rodriguez A, Saunders E, Chen F, Janivara R, Darst B, Sheng X, Xu Y, Chou A, Benlloch S, Dadaev T, Brook M, Plym A, Sahimi A, Hoffman T, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Laisk T, Figuerêdo J, Muir K, Ito S, Liu X, Uchio Y, Kubo M, Kamatani Y, Lophatananon A, Wan P, Andrews C, Lori A, Choudhury P, Schleutker J, Tammela T, Sipeky C, Auvinen A, Giles G, Southey M, MacInnis R, Cybulski C, Wokolorczyk D, Lubinski J, Rentsch C, Cho K, Mcmahon B, Neal D, Donovan J, Hamdy F, Martin R, Nordestgaard B, Nielsen S, Weischer M, Bojesen S, Røder A, Stroomberg H, Batra J, Chambers S, Horvath L, Clements J, Tilly W, Risbridger G, Gronberg H, Aly M, Szulkin R, Eklund M, Nordstrom T, Pashayan N, Dunning A, Ghoussaini M, Travis R, Key T, Riboli E, Park J, Sellers T, Lin H, Albanes D, Weinstein S, Cook M, Mucci L, Giovannucci E, Lindstrom S, Kraft P, Hunter D, Penney K, Turman C, Tangen C, Goodman P, Thompson I, Hamilton R, Fleshner N, Finelli A, Parent M, Stanford J, Ostrander E, Koutros S, Beane Freeman L, Stampfer M, Wolk A, Håkansson N, Andriole G, Hoover R, Machiela M, Sørensen K, Borre M, Blot W, Zheng W, Yeboah E, Mensah J, Lu Y, Zhang H, Feng N, Mao X, Wu Y, Zhao S, Sun Z, Thibodeau S, McDonnell S, Schaid D, West C, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel A, Drake B, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou Y, John E, Grindedal E, Maehle L, Khaw K, Ingles S, Stern M, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein B, Kerns S, Ostrer H, Teixeira M, Paulo P, Brandão A, Watya S, Lubwama A, Bensen J, Butler E, Mohler J, Taylor J, Kogevinas M, Dierssen-Sotos T, Castaño-Vinyals G, Cannon-Albright L, Teerlink C, Huff C, Pilie P, Yu Y, Bohlender R, Gu J, Strom S, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach R, Brenner H, Chen X, Holleczek B, Schöttker B, Klein E, Hsing A, Kittles R, Murphy A, Logothetis C, Kim J, Neuhausen S, Steele L, Ding Y, Isaacs W, Nemesure B, Hennis A, Carpten J, Pandha H, Michael A, De Ruyck K, De Meerleer G, Ost P, Xu J, Razack A, Lim J, Teo S, Newcomb L, Lin D, Fowke J, Neslund-Dudas C, Rybicki B, Gamulin M, Lessel D, Kulis T, Usmani N, Abraham A, Singhal S, Parliament M, Claessens F, Joniau S, Van den Broeck T, Gago-Dominguez M, Castelao J, Martinez M, Larkin S, Townsend P, Aukim-Hastie C, Bush W, Aldrich M, Crawford D, Srivastava S, Cullen J, Petrovics G, Casey G, Wang Y, Tettey Y, Lachance J, Tang W, Biritwum R, Adjei A, Tay E, Truelove A, Niwa S, Yamoah K, Govindasami K, Chokkalingam A, Keaton J, Hellwege J, Clark P, Jalloh M, Gueye S, Niang L, Ogunbiyi O, Shittu O, Amodu O, Adebiyi A, Aisuodionoe-Shadrach O, Ajibola H, Jamda M, Oluwole O, Nwegbu M, Adusei B, Mante S, Darkwa-Abrahams A, Diop H, Gundell S, Roobol M, Jenster G, van Schaik R, Hu J, Sanderson M, Kachuri L, Varma R, McKean-Cowdin R, Torres M, Preuss M, Loos R, Zawistowski M, Zöllner S, Lu Z, Van Den Eeden S, Easton D, Ambs S, Edwards T, Mägi R, Rebbeck T, Fritsche L, Chanock S, Berndt S, Wiklund F, Nakagawa H, Witte J, Gaziano J, Justice A, Mancuso N, Terao C, Eeles R, Kote-Jarai Z, Madduri R, Conti D, Haiman C. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants. Nature Genetics 2023, 55: 2065-2074. PMID: 37945903, PMCID: PMC10841479, DOI: 10.1038/s41588-023-01534-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMulti-ancestry genome-wide association studyNovel risk variantsRisk variantsAssociation studiesProstate cancer genome-wide association studiesCancer genome-wide association studyGenome-wide discoveryProstate cancer susceptibility lociGenetic risk scoreCancer susceptibility lociEuropean ancestry menGenetic studiesSusceptibility lociNon-aggressive diseaseEffective risk stratificationAfrican ancestry menProstate cancer riskAncestry groupsProstate cancer casesRisk stratificationAfrican ancestryProstate cancerCancer casesCancer riskGenome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions
Lindström S, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, Harrison T, Turman C, Chen H, Mancuso N, Bammler T, Consortium B, Gallinger S, Gruber S, Gunter M, Le Marchand L, Moreno V, Offit K, Study G, De Vivo I, O’Mara T, Spurdle A, Tomlinson I, Consortium E, Fitzgerald R, Gharahkhani P, Gockel I, Jankowski J, Macgregor S, Schumacher J, Barnholtz-Sloan J, Bondy M, Houlston R, Jenkins R, Melin B, Wrensch M, Brennan P, Christiani D, Johansson M, Mckay J, Aldrich M, Amos C, Landi M, Tardon A, Consortium I, Bishop D, Demenais F, Goldstein A, Iles M, Kanetsky P, Law M, Consortium O, Amundadottir L, Stolzenberg-Solomon R, Wolpin B, Consortium P, Klein A, Petersen G, Risch H, Consortium T, Chanock S, Purdue M, Scelo G, Pharoah P, Kar S, Hung R, Pasaniuc B, Kraft P. Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. Journal Of The National Cancer Institute 2023, 115: 712-732. PMID: 36929942, PMCID: PMC10248849, DOI: 10.1093/jnci/djad043.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptome-wide association studyCancer susceptibility lociGenome-wide genetic correlationSusceptibility lociAssociation studiesMultiple cancer typesCancer genome-wide association studyGenome-wide analysisCross-disease analysisGenetic correlationsSusceptibility regionsGWAS summary statisticsCancer typesGenetic risk variantsDistinct lociCancer heritabilityLociRisk variantsGenetic contributionEuropean ancestryPleiotropyAdditional regionsDifferent cancersHeritabilityFunctional and molecular characterization of suicidality factors using phenotypic and genome-wide data
Quintero Reis A, Newton B, Kessler R, Polimanti R, Wendt F. Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data. Molecular Psychiatry 2023, 28: 1064-1071. PMID: 36604601, PMCID: PMC10005939, DOI: 10.1038/s41380-022-01929-5.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic scoringSummary association dataGenome-wide dataSNP effect sizesGenomic structural equation modelingGenetic study designsNew traitsAdmixed AmericansEffect size distributionBiological pathwaysAssociation studiesTranscriptomic featuresMolecular characterizationSusceptibility lociGenetic correlationsAssociation dataWide dataTraitsGenetic contributionEuropean ancestryCommon genetic factorsLociPhenotypeGenetic factors
2022
A multiple sclerosis–protective coding variant reveals an essential role for HDAC7 in regulatory T cells
Axisa P, Yoshida T, Lucca L, Kasler H, Lincoln M, Pham G, Del Priore D, Carpier J, Lucas C, Verdin E, Sumida T, Hafler D. A multiple sclerosis–protective coding variant reveals an essential role for HDAC7 in regulatory T cells. Science Translational Medicine 2022, 14: eabl3651. PMID: 36516268, DOI: 10.1126/scitranslmed.abl3651.Peer-Reviewed Original ResearchConceptsExperimental autoimmune encephalitisRegulatory T cellsHistone deacetylase 7Multiple sclerosisT cellsMouse modelFunction of Foxp3CD4 T cellsHigher suppressive capacityVivo modelingAutoimmune encephalitisEAE severityImmunosuppressive subsetAutoimmune diseasesImmunomodulatory roleSuppressive capacityImmune cellsDisease onsetDistinct molecular classesSusceptibility lociGenetic susceptibility lociSingle-cell RNA sequencingDisease riskPatient samplesProtective variantsAlzheimer’s Disease Polygenic Risk Score Is Not Associated With Cognitive Decline Among Older Adults With Type 2 Diabetes
Manzali S, Yu E, Ravona-Springer R, Livny A, Golan S, Ouyang Y, Lesman-Segev O, Liu L, Ganmore I, Alkelai A, Gan-Or Z, Lin H, Heymann A, Beeri M, Greenbaum L. Alzheimer’s Disease Polygenic Risk Score Is Not Associated With Cognitive Decline Among Older Adults With Type 2 Diabetes. Frontiers In Aging Neuroscience 2022, 14: 853695. PMID: 36110429, PMCID: PMC9468264, DOI: 10.3389/fnagi.2022.853695.Peer-Reviewed Original ResearchAssociations of polygenic risk scoresPolygenic risk scoresLate-onset Alzheimer's diseaseOlder adultsAlzheimer’s disease polygenic risk scoreCognitive declineType 2 diabetesGlobal cognitionAssociated with overall functioningRisk scoreRate of cognitive declineDomains of episodic memoryAssociated with cognitive declineVolumes of total gray matterMultiple risk lociSpecific cognitive domainsLanguage/semantic categorizationOverall cognitive functionAlzheimer's diseaseTotal gray matterIsrael DiabetesBrain imaging phenotypesOutcome measuresSusceptibility lociAttention/working memoryGenome-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 ResearchConceptsGenome-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 onePredicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits
Highland H, Wojcik G, Graff M, Nishimura K, Hodonsky C, Baldassari A, Cote A, Cheng I, Gignoux C, Tao R, Li Y, Boerwinkle E, Fornage M, Haessler J, Hindorff L, Hu Y, Justice A, Lin B, Lin D, Stram D, Haiman C, Kooperberg C, Le Marchand L, Matise T, Kenny E, Carlson C, Stahl E, Avery C, North K, Ambite J, Buyske S, Loos R, Peters U, Young K, Bien S, Huckins L. Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits. American Journal Of Human Genetics 2022, 109: 669-679. PMID: 35263625, PMCID: PMC9069067, DOI: 10.1016/j.ajhg.2022.02.013.Peer-Reviewed Original ResearchConceptsAncestrally diverse populationsBody mass indexCardiometabolic traitsEuropean ancestryGene expressionTranscriptomic imputation modelsNon-EA populationsDiverse populationsWhite British participantsReference panelGenetically regulated gene expressionGene-trait associationsTissue-specific gene expressionPopulation ArchitectureUK BiobankMeasurement of gene expressionPredicting gene expressionMulti-omics datasetsRelevant tissuesSusceptibility lociMass indexComplex traitsIdentified genesNovel associationsDiverse sample
2021
Genome-wide trans-ethnic meta-analysis identifies novel susceptibility loci for childhood acute lymphoblastic leukemia
Jeon S, de Smith AJ, Li S, Chen M, Chan TF, Muskens IS, Morimoto LM, DeWan AT, Mancuso N, Metayer C, Ma X, Wiemels JL, Chiang CWK. Genome-wide trans-ethnic meta-analysis identifies novel susceptibility loci for childhood acute lymphoblastic leukemia. Leukemia 2021, 36: 865-868. PMID: 34750507, PMCID: PMC9075725, DOI: 10.1038/s41375-021-01465-1.Peer-Reviewed Original ResearchGenetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data
Hu J, Li C, Wang S, Li T, Zhang H. Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data. Human Genomics 2021, 15: 10. PMID: 33536081, PMCID: PMC7856608, DOI: 10.1186/s40246-021-00306-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic variantsPower of GWASTraditional genome-wide association studiesTraits of interestMulti-locus interactionsHuman bronchial epithelial cellsSignificant genetic variantsDownregulated genesChromosome 2Genetic basisGenetic factorsAssociation studiesBronchial epithelial cellsCilia dysfunctionSusceptibility lociMitochondrial dysfunctionGenome-wide significant genetic variantsEpithelial cellsGenesMolecular pathogenesisHost genetic factorsUK Biobank dataUK BiobankVariants
2020
Epigenetic fine-mapping: identification of causal mechanisms for autoimmunity
Lincoln MR, Axisa PP, Hafler DA. Epigenetic fine-mapping: identification of causal mechanisms for autoimmunity. Current Opinion In Immunology 2020, 67: 50-56. PMID: 32977183, DOI: 10.1016/j.coi.2020.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMolecular mechanismsSusceptibility lociIndividual susceptibility lociFundamental genetic basisCausal molecular mechanismsPathogenic cell typesSpecific molecular mechanismsGenetic susceptibility lociEpigenetic techniquesGenetic basisGenetic lociAssociation studiesCell typesLociRecent advancesMechanismGeneticsAutoimmune diseasesSpectrum of autoimmunityCausal mechanismsEtiological mechanismsInflammatory diseasesTranslationAutoimmunityGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestryA Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer
Zhong J, Jermusyk A, Wu L, Hoskins JW, Collins I, Mocci E, Zhang M, Song L, Chung CC, Zhang T, Xiao W, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt S, Borgida A, Bracci PM, Brais L, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Childs EJ, Cotterchio M, Du M, Duell EJ, Fuchs C, Gallinger S, Gaziano JM, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Haiman C, Hartge P, Hasan M, Helzlsouer KJ, Holly EA, Klein EA, Kogevinas M, Kurtz RJ, LeMarchand L, Malats N, Männistö S, Milne R, Neale RE, Ng K, Obazee O, Oberg AL, Orlow I, Patel AV, Peters U, Porta M, Rothman N, Scelo G, Sesso HD, Severi G, Sieri S, Silverman D, Sund M, Tjønneland A, Thornquist MD, Tobias GS, Trichopoulou A, Van Den Eeden SK, Visvanathan K, Wactawski-Wende J, Wentzensen N, White E, Yu H, Yuan C, Zeleniuch-Jacquotte A, Hoover R, Brown K, Kooperberg C, Risch HA, Jacobs EJ, Li D, Yu K, Shu XO, Chanock SJ, Wolpin BM, Stolzenberg-Solomon RZ, Chatterjee N, Klein AP, Smith JP, Kraft P, Shi J, Petersen GM, Zheng W, Amundadottir LT. A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. Journal Of The National Cancer Institute 2020, 112: 1003-1012. PMID: 31917448, PMCID: PMC7566474, DOI: 10.1093/jnci/djz246.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyCancer risk lociRisk lociAssociation studiesPancreatic cancer susceptibility lociGene expression prediction modelsNovel candidate susceptibility genesPossible causal genesGenome-wide association studiesGenome-wide associationCancer susceptibility lociCandidate susceptibility genesNormal pancreatic tissue samplesFunctional genesTranscriptome dataCausal genesNovel lociCandidate genesGene expressionSusceptibility lociGenesGenotype dataLociSusceptibility genesDifferent tissues
2019
BAL Cell Gene Expression in Severe Asthma Reveals Mechanisms of Severe Disease and Influences of Medications
Weathington N, O’Brien M, Radder J, Whisenant TC, Bleecker ER, Busse WW, Erzurum SC, Gaston B, Hastie A, Jarjour N, Meyers D, Milosevic J, Moore W, Tedrow J, Trudeau J, Wong H, Wu W, Kaminski N, Wenzel S, Modena B. BAL Cell Gene Expression in Severe Asthma Reveals Mechanisms of Severe Disease and Influences of Medications. American Journal Of Respiratory And Critical Care Medicine 2019, 200: 837-856. PMID: 31161938, PMCID: PMC6812436, DOI: 10.1164/rccm.201811-2221oc.Peer-Reviewed Original ResearchMeSH KeywordsAdrenergic beta-AgonistsAdultAsthmaBronchoalveolar Lavage FluidCase-Control StudiesCyclic AMPEosinophilsEpithelial CellsFemaleGene ExpressionHumansIn Vitro TechniquesLymphocytesMacrophages, AlveolarMaleNeutrophilsSequence Analysis, RNASeverity of Illness IndexSignal TransductionTHP-1 CellsConceptsCell gene expressionGene expressionAirway epithelial cell gene expressionEpithelial cell gene expressionGlobal gene expressionCellular gene expressionCell expression profilesAsthma susceptibility lociProtein levelsSystem-wide analysisExpression networksImportant disease mechanismCoexpression networkCellular milieuExpression changesExpression profilesSusceptibility lociCellular modelDisease mechanismsBiomolecular mechanismsNew targetsRobust upregulationSample traitsGenesExpressionInherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
Brown AL, de Smith AJ, Gant VU, Yang W, Scheurer ME, Walsh KM, Chernus JM, Kallsen NA, Peyton SA, Davies GE, Ehli EA, Winick N, Heerema NA, Carroll AJ, Borowitz MJ, Wood BL, Carroll WL, Raetz EA, Feingold E, Devidas M, Barcellos LF, Hansen HM, Morimoto L, Kang AY, Smirnov I, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson P, Spector LG, Pombo-de-Oliveira MS, DeWan AT, Mullighan CG, Hunger SP, Pui CH, Loh ML, Zwick ME, Metayer C, Ma X, Mueller BA, Sherman SL, Wiemels JL, Relling MV, Yang JJ, Lupo PJ, Rabin KR. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. Blood 2019, 134: 1227-1237. PMID: 31350265, PMCID: PMC6788009, DOI: 10.1182/blood.2018890764.Peer-Reviewed Original ResearchMeSH KeywordsChildCyclin-Dependent Kinase Inhibitor p16DNA-Binding ProteinsDown SyndromeGATA3 Transcription FactorGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIkaros Transcription FactorPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTranscription FactorsConceptsFirst genome-wide association studySusceptibility lociGenome-wide association studiesGenome-wide significanceFurther biological insightsGenetic variationEnhancer activityRisk lociBiological insightsLymphoblastoid cell linesAssociation studiesDifferential protein bindingFunctional significanceLociRisk allele frequenciesCell linesAllele frequenciesHigh penetranceRisk allelesProtein bindingCDKN2AGenetic susceptibilityHigher proliferationPenetranceAllele associationsGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Couch F, Cox A, Cross S, Czene K, Daly M, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning A, Dwek M, Eccles D, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching P, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz P, Gapstur S, Garber J, García-Closas M, García-Sáenz J, Gaudet M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Haiman C, Hall P, Hamann U, He W, Heyworth J, Hogervorst F, Hollestelle A, Hoover R, Hopper J, Hulick P, Humphreys K, Imyanitov E, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Joseph V, Karlan B, Khusnutdinova E, Kiiski J, Ko Y, Jones M, Konstantopoulou I, Kristensen V, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindström S, Long J, Loud J, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Nevelsteen I, Nielsen F, Nikitina-Zake L, Nussbaum R, Offit K, Olah E, Olopade O, Olsson H, Osorio A, Papp J, Park-Simon T, Parsons M, Pedersen I, Peixoto A, Peterlongo P, Pharoah P, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch H, Saloustros E, Sanden K, Sawyer E, Schmidt M, Schmutzler R, Sharma P, Shu X, Simard J, Singer C, Soucy P, Southey M, Spinelli J, Spurdle A, Stone J, Swerdlow A, Tapper W, Taylor J, Teixeira M, Terry M, Teulé A, Thomassen M, Thöne K, Thull D, Tischkowitz M, Toland A, Torres D, Truong T, Tung N, Vachon C, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel J, Wendt C, Winqvist R, Yang X, Yannoukakos D, Ziogas A, Kraft P, Antoniou A, Zheng W, Easton D, Milne R, Beesley J, Chenevix-Trench G. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications 2019, 10: 1741. PMID: 30988301, PMCID: PMC6465407, DOI: 10.1038/s41467-018-08053-5.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociGenome-wide association studiesTarget genesMultiple expression quantitative trait lociBreast cancer risk variantsPrevious genome-wide association studyQuantitative trait lociGenome-wide associationGene-based testsBreast cancerBreast cancer susceptibility lociCancer susceptibility lociRisk-associated variantsImmune cellsTrait lociTranscriptome studiesRisk lociGene expressionAssociation studiesOverall breast cancer riskSusceptibility lociMultiple tissuesBreast cancer riskNegative breast cancerRisk variantsFunctional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus
Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder S, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah P, Gayther SA, Monteiro A. Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus. Cancer Research 2019, 79: canres.3864.2017. PMID: 30487138, PMCID: PMC6359979, DOI: 10.1158/0008-5472.can-17-3864.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorChromosome MappingChromosomes, Human, Pair 9Cystadenocarcinoma, SerousDNA-Binding ProteinsDNA, NeoplasmFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHEK293 CellsHumansLinkage DisequilibriumOvarian NeoplasmsPolymorphism, Single NucleotideConceptsScaffold/matrix attachment regionsMatrix attachment regionsTarget genesAttachment regionsOvarian cancer susceptibility lociGenome-wide association studiesCancer risk lociLikely target genesTranscriptional regulatory elementsAllele-specific effectsDownstream target genesLikely causal variantsCancer susceptibility lociCandidate causal SNPsFine mappingRegulatory elementsLoci identifiesCausal variantsRisk lociCausal SNPsFunctional analysisAssociation studiesCancer risk genesSusceptibility lociRisk genes
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