2021
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer
López de Maturana E, Rodríguez JA, Alonso L, Lao O, Molina-Montes E, Martín-Antoniano IA, Gómez-Rubio P, Lawlor R, Carrato A, Hidalgo M, Iglesias M, Molero X, Löhr M, Michalski C, Perea J, O’Rorke M, Barberà VM, Tardón A, Farré A, Muñoz-Bellvís L, Crnogorac-Jurcevic T, Domínguez-Muñoz E, Gress T, Greenhalf W, Sharp L, Arnes L, Cecchini L, Balsells J, Costello E, Ilzarbe L, Kleeff J, Kong B, Márquez M, Mora J, O’Driscoll D, Scarpa A, Ye W, Yu J, García-Closas M, Kogevinas M, Rothman N, Silverman D, Albanes D, Arslan A, Beane-Freeman L, Bracci P, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Du M, Gallinger S, Gaziano J, Goodman P, Gunter M, LeMarchand L, Li D, Neale R, Peters U, Petersen G, Risch H, Sánchez M, Shu X, Thornquist M, Visvanathan K, Zheng W, Chanock S, Easton D, Wolpin B, Stolzenberg-Solomon R, Klein A, Amundadottir L, Marti-Renom M, Real F, Malats N. A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. Genome Medicine 2021, 13: 15. PMID: 33517887, PMCID: PMC7849104, DOI: 10.1186/s13073-020-00816-4.Peer-Reviewed Original ResearchConceptsSilico functional analysisFunctional analysisPublic genomic informationUnfolded protein responseMeta-analysis p-valueLow-frequency variantsPc locusGWAS hitsGenomic informationPhenotypic varianceProtein responseSpatial autocorrelation analysisER stressMajor regulatorFrequency variantsPancreatic acinar cellsGenetic susceptibilityCandidate variantsFactor interplayComplex diseasesIndependent variantsGWASInherited basisLow p-valuesAcinar cells
2020
Hepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies
Julián-Serrano S, Yuan F, Benyamin B, Wheeler W, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolpin B, Yu K, Klein A, Stolzenberg-Solomon R. Hepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 692-692. DOI: 10.1158/1055-9965.epi-20-0056.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsAssociation studiesSNP-level associationsGenome-wide association studiesAssociated single-nucleotide polymorphismsAdjacent genomic regionsWide association studyPrevious GWAS studiesIron metabolism genesIron metabolismGenomic regionsTfR1 genePancreatic ductal adenocarcinomaGWAS studiesPancreatic Cancer Case-Control ConsortiumPathway associationsPathway analysisGenesGenetic susceptibilityAdaptive rankRare mutationsAbstract Pancreatic ductal adenocarcinomaCommon variantsPathwayPotential role
2019
A Pathway Analysis of Hereditary Hemochromatosis-related Genes and Pancreatic Ductal Adenocarcinoma Risk (FS11-05-19)
Julián-Serrano S, Yu K, Yuan F, Wheeler W, Karimi P, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolphin B, Klein A, Stolzenberg-Solomon R. A Pathway Analysis of Hereditary Hemochromatosis-related Genes and Pancreatic Ductal Adenocarcinoma Risk (FS11-05-19). Current Developments In Nutrition 2019, 3: nzz037.fs11-05-19. PMCID: PMC6573995, DOI: 10.1093/cdn/nzz037.fs11-05-19.Peer-Reviewed Original ResearchPancreatic ductal adenocarcinomaHereditary hemochromatosis geneGenetic susceptibilityPDAC riskSingle nucleotide polymorphismsHereditary hemochromatosisHigh red meat intakeType 2 diabetes mellitusHemochromatosis geneRed meat intakePancreatic Cancer Case-Control ConsortiumIron-rich foodsType 2 diabetesPancreatic Cancer Cohort ConsortiumPancreatic ductal adenocarcinoma (PDAC) riskIntramural Research ProgramNational Cancer InstitutePathway analysisDiabetes mellitusAdenocarcinoma riskPrimary hemochromatosisRisk factorsChronic diseasesDuctal adenocarcinomaMeat intakeMo1372 – Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductual Adenocarcinoma: A Pathway Analysis of Genome-Wide Association Studies
Yuan F, Hung R, Zhang H, Wheeler W, Platz E, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolpin B, Yu K, Klein A, Stolzenberg-Solomo R. Mo1372 – Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductual Adenocarcinoma: A Pathway Analysis of Genome-Wide Association Studies. Gastroenterology 2019, 156: s-755-s-756. DOI: 10.1016/s0016-5085(19)38824-9.Peer-Reviewed Original Research
2016
Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma
Buas MF, He Q, Johnson LG, Onstad L, Levine DM, Thrift AP, Gharahkhani P, Palles C, Lagergren J, Fitzgerald RC, Ye W, Caldas C, Bird NC, Shaheen NJ, Bernstein L, Gammon MD, Wu AH, Hardie LJ, Pharoah PD, Liu G, Iyer P, Corley DA, Risch HA, Chow WH, Prenen H, Chegwidden L, Love S, Attwood S, Moayyedi P, MacDonald D, Harrison R, Watson P, Barr H, deCaestecker J, Tomlinson I, Jankowski J, Whiteman DC, MacGregor S, Vaughan TL, Madeleine MM. Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma. Gut 2016, 66: 1739. PMID: 27486097, PMCID: PMC5296402, DOI: 10.1136/gutjnl-2016-311622.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBarrett EsophagusCytokinesEsophageal NeoplasmsFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyGerm-Line MutationGlutathione TransferaseHLA AntigensHumansInflammationMaleMiddle AgedNF-kappa BOxidative StressPolymorphism, Single NucleotidePrincipal Component AnalysisProstaglandin-Endoperoxide SynthasesRisk FactorsSignal TransductionConceptsBarrett's esophagusBE casesSingle nucleotide polymorphismsGermline variationOesophageal adenocarcinoma incidenceHuman leucocyte antigenInflammation-related pathwaysSymptomatic refluxSystemic inflammationAdenocarcinoma incidenceOesophageal adenocarcinomaOA pathogenesisInflammatory processLeucocyte antigenOA casesRisk factorsCOX pathwayBE riskOA riskDisease riskEsophagusStrong expression quantitative trait locusGenetic susceptibilityNuclear factorExpression quantitative trait lociGWAS 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
Genes–Environment Interactions in Obesity- and Diabetes-Associated Pancreatic Cancer: A GWAS Data Analysis
Tang H, Wei P, Duell EJ, Risch HA, Olson SH, Bueno-de-Mesquita HB, Gallinger S, Holly EA, Petersen GM, Bracci PM, McWilliams RR, Jenab M, Riboli E, Tjønneland A, Boutron-Ruault MC, Kaaks R, Trichopoulos D, Panico S, Sund M, Peeters PH, Khaw KT, Amos CI, Li D. Genes–Environment Interactions in Obesity- and Diabetes-Associated Pancreatic Cancer: A GWAS Data Analysis. Cancer Epidemiology Biomarkers & Prevention 2014, 23: 98-106. PMID: 24136929, PMCID: PMC3947145, DOI: 10.1158/1055-9965.epi-13-0437-t.Peer-Reviewed Original ResearchConceptsPancreatic cancerIngenuity Pathway AnalysisSingle nucleotide polymorphismsAssociation of obesityPancreatic Cancer Case-Control ConsortiumRisk of obesityAlterable risk factorsPancreatic cancer riskRisk factor dataLogistic regression modelsGenome-wide levelAdditional large datasetsMajor contributing genesInsulin resistanceRisk factorsInflammatory responseCancer riskGene-environment interactionsObesityGene-environment interaction analysisSignificant interactionDiabetesGWAS data analysisCancerGenetic susceptibility
2013
Polymorphisms in Inflammation Pathway Genes and Endometrial Cancer Risk
Delahanty RJ, Xiang YB, Spurdle A, Beeghly-Fadiel A, Long J, Thompson D, Tomlinson I, Yu H, Lambrechts D, Dörk T, Goodman MT, Zheng Y, Salvesen HB, Bao PP, Amant F, Beckmann MW, Coenegrachts L, Coosemans A, Dubrowinskaja N, Dunning A, Runnebaum IB, Easton D, Ekici AB, Fasching PA, Halle MK, Hein A, Howarth K, Gorman M, Kaydarova D, Krakstad C, Lose F, Lu L, Lurie G, O'Mara T, Matsuno RK, Pharoah P, Risch H, Corssen M, Trovik J, Turmanov N, Wen W, Lu W, Cai Q, Zheng W, Shu XO. Polymorphisms in Inflammation Pathway Genes and Endometrial Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2013, 22: 216-223. PMID: 23221126, PMCID: PMC3677562, DOI: 10.1158/1055-9965.epi-12-0903.Peer-Reviewed Original ResearchMeSH KeywordsAsian PeopleBiomarkers, TumorCase-Control StudiesChinaEndometrial NeoplasmsFemaleFollow-Up StudiesGene Expression ProfilingGenetic Predisposition to DiseaseHumansInflammationLinkage DisequilibriumMiddle AgedNeoplasm StagingOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotidePrognosisRisk FactorsConceptsEndometrial cancer riskEndometrial cancer casesEndometrial cancerSingle nucleotide polymorphismsOdds ratioCancer casesEndometrial carcinogenesisCancer riskStage IConfidence intervalsInflammation pathway genesInflammatory pathway genesAllelic odds ratioChronic inflammationEpidemiologic evidenceInflammatory pathwaysPathway genesSignificant associationStage IIGenetic susceptibilityMMP9 polymorphismsAdditional studiesCancerGenetic polymorphismsFollow-up genotyping