2018
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer
Walsh N, Zhang H, Hyland PL, Yang Q, Mocci E, Zhang M, Childs EJ, Collins I, Wang Z, Arslan AA, Beane-Freeman L, Bracci PM, Brennan P, Canzian F, Duell EJ, Gallinger S, Giles GG, Goggins M, Goodman GE, Goodman PJ, Hung RJ, Kooperberg C, Kurtz RC, Malats N, LeMarchand L, Neale RE, Olson SH, Scelo G, Shu XO, Van Den Eeden SK, Visvanathan K, White E, Zheng W, consortia P, Albanes D, Andreotti G, Babic A, Bamlet W, Berndt S, Borgida A, Boutron-Ruault M, Brais L, Brennan P, Bueno-de-Mesquita B, Buring J, Chaffee K, Chanock S, Cleary S, Cotterchio M, Foretova L, Fuchs C, Gaziano J, Giovannucci E, Goggins M, Hackert T, Haiman C, Hartge P, Hasan M, Helzlsouer K, Herman J, Holcatova I, Holly E, Hoover R, Hung R, Janout V, Klein E, Kurtz R, Laheru D, Lee I, Lu L, Malats N, Mannisto S, Milne R, Oberg A, Orlow I, Patel A, Peters U, Porta M, Real F, Rothman N, Sesso H, Severi G, Silverman D, Strobel O, Sund M, Thornquist M, Tobias G, Wactawski-Wende J, Wareham N, Weiderpass E, Wentzensen N, Wheeler W, Yu H, Zeleniuch-Jacquotte A, Kraft P, Li D, Jacobs E, Petersen G, Wolpin B, Risch H, Amundadottir L, Yu K, Klein A, Stolzenberg-Solomon R. Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer. Journal Of The National Cancer Institute 2018, 111: 557-567. PMID: 30541042, PMCID: PMC6579744, DOI: 10.1093/jnci/djy155.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGene setsSingle nucleotide polymorphismsFunctional annotationEpidermal growth factor receptor transactivationExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisGrowth factor receptor transactivationTop single nucleotide polymorphismsG protein-coupled receptorsGene-set analysisProtein-coupled receptorsIndividual single nucleotide polymorphismsBeta-cell developmentEQTL analysisGWAS dataPCC genesPancreatic ductal adenocarcinomaReceptor transactivationLocus analysisPathway analysisAssociation studiesGenesSusceptibility genesIdentifies associationsIdentification of nine new susceptibility loci for endometrial cancer
O’Mara T, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 2018, 9: 3166. PMID: 30093612, PMCID: PMC6085317, DOI: 10.1038/s41467-018-05427-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCandidate causal genesCausal genesNovel genome-wide significant lociRisk lociEndometrial cancer risk lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSignal transduction proteinsCancer risk lociNew susceptibility lociTransduction proteinsSignificant lociLocus analysisNegative regulatorAssociation studiesFemale reproductive tractSusceptibility lociLoci associateLociGenesDecreased expressionReproductive tractRisk allelesGenome-wide association analysis identifies a meningioma risk locus at 11p15.5
Claus EB, Cornish AJ, Broderick P, Schildkraut JM, Dobbins SE, Holroyd A, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM, Schramm J, Hoffmann P, Nöthen MM, Jöckel KH, Swerdlow A, Larsen SB, Johansen C, Simon M, Bondy M, Wrensch M, Houlston RS, Wiemels JL. Genome-wide association analysis identifies a meningioma risk locus at 11p15.5. Neuro-Oncology 2018, 20: 1485-1493. PMID: 29762745, PMCID: PMC6176799, DOI: 10.1093/neuonc/noy077.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorCase-Control StudiesChromosomes, Human, Pair 11FemaleFollow-Up StudiesGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMaleMeningeal NeoplasmsMeningiomaMiddle AgedPolymorphism, Single NucleotidePrognosisRisk FactorsYoung AdultConceptsGenome-wide association studiesRisk lociGenome-wide association analysisSusceptibility lociNeural crest-derived structuresSignificant heritable basisNumber of genesIndependent sample seriesNew susceptibility lociHeritable basisGenetic basisGenome ProjectAssociation studiesAssociation analysisLinkage disequilibriumLociMeningioma developmentReference panelPolygenic modelCentral roleUK10K dataAdult brain tumorsRIC8AMeningeal coveringsGenes
2016
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer
Chen MM, O'Mara TA, Thompson DJ, Painter JN, Group T, Attia J, Black A, Brinton L, Chanock S, Chen C, Cheng T, Cook L, Crous-Bou M, Doherty J, Friedenreich C, Garcia-Closas M, Gaudet M, Gorman M, Haiman C, Hankinson S, Hartge P, Henderson B, Hodgson S, Holliday E, Horn-Ross P, Hunter D, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco A, Martin L, McEvoy M, Group S, Olson S, Orlow I, Pooler L, Prescott J, Rastogi R, Rebbeck T, Risch H, Sacerdote C, Schumacher F, Setiawan V, Scott R, Sheng X, Shu X, Turman C, Van Den Berg D, Wang Z, Weiss N, Wentzensen N, Xia L, Xiang Y, Yang H, Yu H, Zheng W, Pharoah P, Dunning A, Tomlinson I, Easton D, Kraft P, Spurdle A, De Vivo I. GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. Human Molecular Genetics 2016, 25: 2612-2620. PMID: 27008869, PMCID: PMC5868213, DOI: 10.1093/hmg/ddw092.Peer-Reviewed Original ResearchConceptsEndometrial cancerCommon gynecological malignancyMeta-analysis resultsGynecological malignanciesGenome-wide significanceGenetic predispositionWide association studyNew susceptibility lociGenetic susceptibilityGenetic riskCancerNew lociAssociation studiesEuropean ancestrySusceptibility lociWomen
2014
Genome‐wide association discoveries of alcohol dependence
Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, Hong J, Zhong C, Wang F, Zhang X, Vanderlinden LA, Tabakoff B, Luo X. Genome‐wide association discoveries of alcohol dependence. American Journal On Addictions 2014, 23: 526-539. PMID: 25278008, PMCID: PMC4187224, DOI: 10.1111/j.1521-0391.2014.12147.x.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide levelPotential biological functionsGWAS samplesADH clusterGenome-wide association discoveryRisk variantsBiological functionsAlcohol dehydrogenase clusterWide significant associationsRobust risk locusCis-eQTLsRisk lociNrd1Association studiesKIAA0040PKNOX2RNA expressionImportant roleHTR7Replicable associationsIndividual samplesSERINC2Mouse brainVariantsExome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
Chen MM, Crous-Bou M, Setiawan VW, Prescott J, Olson SH, Wentzensen N, Black A, Brinton L, Chen C, Chen C, Cook LS, Doherty J, Friedenreich CM, Hankinson SE, Hartge P, Henderson BE, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Lu L, Orlow I, Petruzella S, Polidoro S, Pooler L, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Sheng X, Shu XO, Weiss NS, Xia L, Van Den Berg D, Yang HP, Yu H, Chanock S, Haiman C, Kraft P, De Vivo I. Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population. PLOS ONE 2014, 9: e97045. PMID: 24810602, PMCID: PMC4014590, DOI: 10.1371/journal.pone.0097045.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesExome-wide association studyAssociation studiesPrevious genome-wide association studyRare genetic variantsRare variantsHumanExome BeadChipGenetic variantsCommon variantsEndometrial cancerEC riskGenetic factorsEC pathogenesisGlobal significanceVariantsMultiethnic populationRisk of ECBeadChipEndometrial Cancer ConsortiumLociLarge effectCancer morbidityRisk factors
2013
Genome-wide association study of endometrial cancer in E2C2
De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, The Australian National Endometrial Cancer Study Group, Attia J, Black A, Brinton L, Chen C, Chen C, Cook LS, Crous-Bou M, Doherty J, Dunning AM, Easton DF, Friedenreich CM, Garcia-Closas M, Gaudet MM, Haiman C, Hankinson SE, Hartge P, Henderson BE, Holliday E, Horn-Ross PL, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco AM, McEvoy M, O’Mara T, Orlow I, Painter JN, Pooler L, Rastogi R, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Scott RJ, Sheng X, Shu XO, Spurdle AB, Thompson D, VanDen Berg D, Weiss NS, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Chanock S, Kraft P. Genome-wide association study of endometrial cancer in E2C2. Human Genetics 2013, 133: 211-224. PMID: 24096698, PMCID: PMC3898362, DOI: 10.1007/s00439-013-1369-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedAsian PeopleBlack or African AmericanCase-Control StudiesCohort StudiesEndometrial NeoplasmsFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHumansMiddle AgedPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsTwo-stage genome-wide association studyAssociation studiesGenome-wide significanceIndependent single nucleotide polymorphismsNovel genetic polymorphismsHNF1B locusGenetic markersEuropean ancestryNovel variantsGenetic polymorphismsGenetic factorsEC susceptibilityPolymorphismLociCommon gynecological malignancyE2C2AncestryReplicationCancerVariants
2011
Erratum: Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q
Zuo L, Gelernter J, Zhang C, Zhao H, Lu L, Kranzler H, Malison R, Li C, Wang F, Zhang X, Deng H, Krystal J, Zhang F, Luo X. Erratum: Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q. Neuropsychopharmacology 2011, 37: 581-582. PMCID: PMC3242324, DOI: 10.1038/npp.2011.271.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesGenome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q
Zuo L, Gelernter J, Zhang CK, Zhao H, Lu L, Kranzler HR, Malison RT, Li CS, Wang F, Zhang XY, Deng HW, Krystal JH, Zhang F, Luo X. Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q. Neuropsychopharmacology 2011, 37: 557-566. PMID: 21956439, PMCID: PMC3242317, DOI: 10.1038/npp.2011.229.Peer-Reviewed Original ResearchConceptsSignificant risk genesHapMap populationsGenome-wide association analysisExpression quantitative trait loci (eQTL) analysisGenome-wide association study data setsQuantitative trait locus (QTL) analysisAssociation analysisMetabolic pathwaysRisk genesGenome-wide association studiesSNP-expression associationsCis-acting regulatory effectsExtracellular matrix proteinsGene expression levelsNumerous genesSignificant SNPsCausal variantsKIAA0040Risk lociRisk of ADLocus analysisAssociation studiesMatrix proteinsRisk SNPsCell migration