2021
Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers
Glubb DM, Thompson DJ, Aben K, Alsulimani A, Amant F, Annibali D, Attia J, Barricarte A, Beckmann MW, Berchuck A, Bermisheva M, Bernardini MQ, Bischof K, Bjorge L, Bodelon C, Brand AH, Brenton JD, Brinton LA, Bruinsma F, Buchanan DD, Burghaus S, Butzow R, Cai H, Carney ME, Chanock SJ, Chen C, Chen X, Chen Z, Cook LS, Cunningham JM, De Vivo I, deFazio A, Doherty JA, Dörk T, du Bois A, Dunning AM, Dürst M, Edwards T, Edwards RP, Ekici AB, Ewing A, Fasching PA, Ferguson S, Flanagan JM, Fostira F, Fountzilas G, Friedenreich CM, Gao B, Gaudet MM, Gawełko J, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harris HR, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Høgdall E, Høgdall CK, Holliday EG, Huntsman DG, Huzarski T, Jakubowska A, Jensen A, Jones ME, Karlan BY, Karnezis A, Kelley JL, Khusnutdinova E, Killeen JL, Kjaer SK, Klapdor R, Köbel M, Konopka B, Konstantopoulou I, Kopperud RK, Koti M, Kraft P, Kupryjanczyk J, Lambrechts D, Larson MC, Le Marchand L, Lele S, Lester J, Li AJ, Liang D, Liebrich C, Lipworth L, Lissowska J, Lu L, Lu KH, Macciotta A, Mattiello A, May T, McAlpine JN, McGuire V, McNeish IA, Menon U, Modugno F, Moysich KB, Nevanlinna H, Odunsi K, Olsson H, Orsulic S, Osorio A, Palli D, Park-Simon TW, Pearce CL, Pejovic T, Permuth JB, Podgorska A, Ramus SJ, Rebbeck TR, Riggan MJ, Risch HA, Rothstein JH, Runnebaum IB, Scott RJ, Sellers TA, Senz J, Setiawan VW, Siddiqui N, Sieh W, Spiewankiewicz B, Sutphen R, Swerdlow AJ, Szafron L, Teo SH, Thompson PJ, Thomsen LCV, Titus L, Tone A, Tumino R, Turman C, Vanderstichele A, Edwards D, Vergote I, Vierkant RA, Wang Z, Wang-Gohrke S, Webb PM, Group F, Group F, White E, Whittemore A, Winham S, Wu X, Wu A, Yannoukakos D, Spurdle A, O'Mara T. Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers. Cancer Epidemiology Biomarkers & Prevention 2021, 30: 217-228. PMID: 33144283, DOI: 10.1158/1055-9965.epi-20-0739.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialEndometrial NeoplasmsFemaleGenome-Wide Association StudyHumansOvarian NeoplasmsQuantitative Trait LociRisk Factors
2020
Bayesian copy number detection and association in large-scale studies
Cristiano S, McKean D, Carey J, Bracci P, Brennan P, Chou M, Du M, Gallinger S, Goggins MG, Hassan MM, Hung RJ, Kurtz RC, Li D, Lu L, Neale R, Olson S, Petersen G, Rabe KG, Fu J, Risch H, Rosner GL, Ruczinski I, Klein AP, Scharpf RB. Bayesian copy number detection and association in large-scale studies. BMC Cancer 2020, 20: 856. PMID: 32894098, PMCID: PMC7487704, DOI: 10.1186/s12885-020-07304-3.Peer-Reviewed Original ResearchMendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer
Kho P, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Brinton L, Buchanan DD, Chanock SJ, Chen C, Chen MM, Cheng THT, Cook LS, Crous‐Bous M, Czene K, De Vivo I, Dennis J, Dörk T, Dowdy SC, Dunning AM, Dürst M, Easton DF, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, García‐Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankinson SE, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hunter DJ, Jones A, Kraft P, Krakstad C, Lambrechts D, Le Marchand L, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Milne RL, Mints M, Nassir R, Otton G, Palles C, Pooler L, Proietto T, Rebbeck TR, Renner SP, Risch HA, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu X, Southey MC, Tham E, Tomlinson I, Trovik J, Turman C, Tyrer JP, Van Den Berg D, Wang Z, Wentzensen N, Xia L, Xiang Y, Yang HP, Yu H, Zheng W, Webb PM, Thompson DJ, Spurdle AB, Glubb DM, O'Mara TA. Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer. International Journal Of Cancer 2020, 148: 307-319. PMID: 32851660, PMCID: PMC7757859, DOI: 10.1002/ijc.33206.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCholesterol, HDLCholesterol, LDLEndometrial NeoplasmsFemaleGenome-Wide Association StudyHumansMendelian Randomization AnalysisRiskTriglyceridesConceptsNon-endometrioid endometrial cancerEndometrial cancer riskEndometrial cancerLDL cholesterol levelsMendelian randomization analysisBlood lipidsCholesterol levelsCancer riskRandomization analysisLower endometrial cancer riskNon-endometrioid subtypesHDL cholesterol levelsBlood lipid levelsEndometrial cancer developmentRange of cancersTwo-sample Mendelian randomization (MR) analysisPotential confounding roleHDL cholesterolColorectal cancerLipid levelsObservational studyLower riskGlobal Lipids Genetics ConsortiumCancerInconsistent associations
2019
Mendelian randomization provides support for obesity as a risk factor for meningioma
Takahashi H, Cornish AJ, Sud A, Law PJ, Disney-Hogg L, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM, Schramm J, Hoffmann P, Nöthen MM, Jöckel KH, Schildkraut JM, Simon M, Bondy M, Wrensch M, Wiemels JL, Claus EB, Turnbull C, Houlston RS. Mendelian randomization provides support for obesity as a risk factor for meningioma. Scientific Reports 2019, 9: 309. PMID: 30670737, PMCID: PMC6343031, DOI: 10.1038/s41598-018-36186-6.Peer-Reviewed Original ResearchMeSH KeywordsAdipose TissueBody Mass IndexCase-Control StudiesGenetic VariationGenome-Wide Association StudyHumansMendelian Randomization AnalysisMeningiomaObesityOdds RatioRisk FactorsConceptsRisk of meningiomaMeningioma riskObesity-related traitsLipoprotein cholesterolBlood pressureRisk factorsOdds ratioLow-density lipoprotein cholesterolHigh-density lipoprotein cholesterolMendelian randomizationCause of meningiomaGenetic instrumentsDiastolic blood pressureEpidemiological observational studiesSystolic blood pressureBody mass indexBody fat percentageWaist circumferenceTotal cholesterolMass indexObservational studyMeningioma patientsMeningiomasBasal metabolic rateObesity
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 ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalCase-Control StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansModels, StatisticalPancreatic NeoplasmsPolymorphism, Single NucleotideConceptsGenome-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 coveringsGenesGenome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
2017
Environmental factors, seven GWAS‐identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population
Cai M, Dai S, Chen W, Xia C, Lu L, Dai S, Qi J, Wang M, Wang M, Zhou L, Lei F, Zuo T, Zeng H, Zhao X. Environmental factors, seven GWAS‐identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population. Cancer Medicine 2017, 6: 708-720. PMID: 28220687, PMCID: PMC5345626, DOI: 10.1002/cam4.1038.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DrinkingAMP-Activated Protein KinasesAntigens, NeoplasmAsian PeopleChinaFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGPI-Linked ProteinsHelicobacter InfectionsHumansLogistic ModelsMaleMembrane Transport ProteinsMucin-1Neoplasm ProteinsNerve Tissue ProteinsRisk FactorsSmokingStomach NeoplasmsTranscription FactorsConceptsRisk of GCPylori infectionAlcohol drinkingPRKAA1 rs13361707Intestinal metaplasiaGastric cancerGene-environment interactionsGastric carcinogenesisChinese populationSevere intestinal metaplasiaHelicobacter pylori infectionUnconditional logistic regressionPrecancerous gastric lesionsGastric cancer riskEnvironmental risk factorsGenetic predisposition factorsGenome-wide association studiesSusceptibility lociMUC1 rs4072037Gastric lesionsRisk factorsEffect modificationCancer riskAlcohol consumptionDisease risk
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 ResearchMeSH KeywordsChromosomes, Human, Pair 6Endometrial NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideWhite PeopleConceptsEndometrial cancerCommon gynecological malignancyMeta-analysis resultsGynecological malignanciesGenome-wide significanceGenetic predispositionWide association studyNew susceptibility lociGenetic susceptibilityGenetic riskCancerNew lociAssociation studiesEuropean ancestrySusceptibility lociWomen
2015
Body Mass Index Genetic Risk Score and Endometrial Cancer Risk
Prescott J, Setiawan VW, Wentzensen N, Schumacher F, Yu H, Delahanty R, Bernstein L, Chanock SJ, Chen C, Cook LS, Friedenreich C, Garcia-Closas M, Haiman CA, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Olson SH, Risch HA, Shu XO, Ursin G, Yang HP, Kraft P, De Vivo I. Body Mass Index Genetic Risk Score and Endometrial Cancer Risk. PLOS ONE 2015, 10: e0143256. PMID: 26606540, PMCID: PMC4659592, DOI: 10.1371/journal.pone.0143256.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskBody mass indexGenotype risk scoreCancer riskRisk scoreHigher body mass indexRisk allelesIndependent risk factorEndometrial cancer casesExcess body weightRisk factor dataGenetic risk scoreGenome-wide association studiesEndometrial cancerMass indexBMI riskRisk factorsEffect modificationCancer casesRisk lociBody weightCancer shareExploratory analysisStudy designControl participantsCommon variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer
Childs EJ, Mocci E, Campa D, Bracci PM, Gallinger S, Goggins M, Li D, Neale RE, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nature Genetics 2015, 47: 911-916. PMID: 26098869, PMCID: PMC4520746, DOI: 10.1038/ng.3341.Peer-Reviewed Original ResearchMeSH KeywordsAgedAustraliaChromosomes, Human, Pair 17Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7EuropeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNorth AmericaPancreatic NeoplasmsPolymorphism, Single NucleotideRisk FactorsCharacterization of Large Structural Genetic Mosaicism in Human Autosomes
Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen C, Khaw KT, Koh WP, Kolonel LN, Kooperberg C, Krogh V, Kurtz RC, LaCroix A, Landgren A, Landi MT, Li D, Liao LM, Malats N, McGlynn KA, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Peplonska B, Peters U, Petersen GM, Prokunina-Olsson L, Purdue M, Qiao YL, Rabe KG, Rajaraman P, Real FX, Riboli E, Rodríguez-Santiago B, Rothman N, Ruder AM, Savage SA, Schwartz AG, Schwartz KL, Sesso HD, Severi G, Silverman DT, Spitz MR, Stevens VL, Stolzenberg-Solomon R, Stram D, Tang ZZ, Taylor PR, Teras LR, Tobias GS, Viswanathan K, Wacholder S, Wang Z, Weinstein SJ, Wheeler W, White E, Wiencke JK, Wolpin BM, Wu X, Wunder JS, Yu K, Zanetti KA, Zeleniuch-Jacquotte A, Ziegler RG, de Andrade M, Barnes KC, Beaty TH, Bierut LJ, Desch KC, Doheny KF, Feenstra B, Ginsburg D, Heit JA, Kang JH, Laurie CA, Li JZ, Lowe WL, Marazita ML, Melbye M, Mirel DB, Murray JC, Nelson SC, Pasquale LR, Rice K, Wiggs JL, Wise A, Tucker M, Pérez-Jurado LA, Laurie CC, Caporaso NE, Yeager M, Chanock SJ. Characterization of Large Structural Genetic Mosaicism in Human Autosomes. American Journal Of Human Genetics 2015, 96: 487-497. PMID: 25748358, PMCID: PMC4375431, DOI: 10.1016/j.ajhg.2015.01.011.Peer-Reviewed Original ResearchMeSH KeywordsAgedChromosome AberrationsFemaleGenome, HumanGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedMosaicismNeoplasmsConceptsGenetic mosaicismGenome-wide association study dataLarge structural eventsAssociation study dataHuman autosomesGenotyped individualsAutosomal mosaicismMosaicismStructural eventsMosaic cellsUnique abilityAfrican ancestryFraction of individualsCombined resultsAutosomesComplex changesGenomeAncestryCellsLarge combined sampleAutosomal abnormalitiesMB
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 brainVariantsCross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia
Setiawan VW, Schumacher F, Prescott J, Haessler J, Malinowski J, Wentzensen N, Yang H, Chanock S, Brinton L, Hartge P, Lissowska J, Park SL, Cheng I, Bush WS, Crawford DC, Ursin G, Horn-Ross P, Bernstein L, Lu L, Risch H, Yu H, Sakoda LC, Doherty J, Chen C, Jackson R, Yasmeen S, Cote M, Kocarnik JM, Peters U, Kraft P, De Vivo I, Haiman CA, Kooperberg C, Le Marchand L. Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia. Carcinogenesis 2014, 35: 2068-2073. PMID: 24832084, PMCID: PMC4146418, DOI: 10.1093/carcin/bgu107.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskEndometrial cancerCancer riskSingle nucleotide polymorphismsEndometrial Cancer ConsortiumEndometrial cancer casesBody mass indexProstate cancer riskMultiple cancer sitesEvidence of heterogeneityMass indexCancer sitesProstate cancerBonferroni-corrected P valueCancer casesCancer-associated single nucleotide polymorphismsCancer ConsortiumGenome-wide association studiesCancerStatistical significanceP-valueEpidemiologyRiskBiological mechanismsEuropean ancestryExome-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 ResearchMeSH KeywordsAgedEndometrial NeoplasmsExomeFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMiddle AgedConceptsGenome-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
2012
Genome‐Wide Significant Association Signals in IPO11‐HTR1A Region Specific for Alcohol and Nicotine Codependence
Zuo L, Zhang X, Wang F, Li C, Lu L, Ye L, Zhang H, Krystal JH, Deng H, Luo X. Genome‐Wide Significant Association Signals in IPO11‐HTR1A Region Specific for Alcohol and Nicotine Codependence. Alcohol Clinical And Experimental Research 2012, 37: 730-739. PMID: 23216389, PMCID: PMC3610804, DOI: 10.1111/acer.12032.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBeta KaryopherinsBlack or African AmericanCase-Control StudiesChromosomes, Human, Pair 5FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociReceptor, Serotonin, 5-HT1ATobacco Use DisorderWhite PeopleConceptsGenome-wide significance levelSingle nucleotide polymorphismsReplication cohortDiscovery cohortAlcohol dependenceExpression quantitative loci (eQTL) analysisPeripheral blood mononuclear cell samplesNeuropsychiatric disordersWide significant association signalsMononuclear cell samplesGenome-wide association studiesQuantitative loci analysisGene-disease association analysisCis-eQTL analysisTop single nucleotide polymorphismsCis-acting regulatory effectsSignificant association signalsBrain tissue samplesAmerican controlsEuropean American controlsRisk single nucleotide polymorphismsAfrican-American controlsSevere subtypeGenomic regionsAfrican American casesGenome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer
Long J, Zheng W, Xiang YB, Lose F, Thompson D, Tomlinson I, Yu H, Wentzensen N, Lambrechts D, Dörk T, Dubrowinskaja N, Goodman MT, Salvesen HB, Fasching PA, Scott RJ, Delahanty R, Zheng Y, O'Mara T, Healey CS, Hodgson S, Risch H, Yang HP, Amant F, Turmanov N, Schwake A, Lurie G, Trovik J, Beckmann MW, Ashton K, Ji BT, Bao PP, Howarth K, Lu L, Lissowska J, Coenegrachts L, Kaidarova D, Dürst M, Thompson PJ, Krakstad C, Ekici AB, Otton G, Shi J, Zhang B, Gorman M, Brinton L, Coosemans A, Matsuno RK, Halle MK, Hein A, Proietto A, Cai H, Lu W, Dunning A, Easton D, Gao YT, Cai Q, Spurdle AB, Shu XO. Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer. Cancer Epidemiology Biomarkers & Prevention 2012, 21: 980-987. PMID: 22426144, PMCID: PMC3372671, DOI: 10.1158/1055-9965.epi-11-1160.Peer-Reviewed Original ResearchGenome‐wide search for replicable risk gene regions in alcohol and nicotine co‐dependence
Zuo L, Zhang F, Zhang H, Zhang X, Wang F, Li C, Lu L, Hong J, Lu L, Krystal J, Deng H, Luo X. Genome‐wide search for replicable risk gene regions in alcohol and nicotine co‐dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2012, 159B: 437-444. PMID: 22488850, PMCID: PMC3405545, DOI: 10.1002/ajmg.b.32047.Peer-Reviewed Original ResearchConceptsChromosome 3Genome-wide false discovery rateGene regionFalse discovery rateGenome-wide association analysisExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisRisk SNPsTranscript expressionGenome-wide association strategyGenome-wide searchCombined P valueSNP-disease associationsAssociation peakGenomic regionsEQTL analysisEuropean American casesCausal lociLocus analysisGene expressionAssociation analysisGenesSNPsRegulatory effectsDiscovery rate