2021
Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome‐wide association study
Wang Z, Budhu AS, Shen Y, Wong LL, Hernandez BY, Tiirikainen M, Ma X, Irwin ML, Lu L, Zhao H, Lim JK, Taddei T, Mishra L, Pawlish K, Stroup A, Brown R, Nguyen MH, Koshiol J, Hernandez MO, Forgues M, Yang H, Lee M, Huang Y, Iwasaki M, Goto A, Suzuki S, Matsuda K, Tanikawa C, Kamatani Y, Mann D, Guarnera M, Shetty K, Thomas CE, Yuan J, Khor CC, Koh W, Risch H, Wang XW, Yu H. Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome‐wide association study. JGH Open 2021, 5: 1363-1372. PMID: 34950780, PMCID: PMC8674550, DOI: 10.1002/jgh3.12682.Peer-Reviewed Original ResearchNonalcoholic fatty liver diseaseCase-control studyHepatocellular carcinomaSingle nucleotide polymorphismsChronic hepatitis C virus (HCV) infectionHepatitis C virus infectionGenetic susceptibilityC virus infectionLong-term alcohol useFatty liver diseaseUS case-control studyBody mass indexMajor risk factorGenome-wide association studiesHCV infectionCohort studyLiver diseaseCigarette smokingMass indexRisk factorsHCC casesVirus infectionGene-environment interactionsUS populationDisease risk
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 associations
2015
DNA Repair Genes XRCC1 and ERCC1 Polymorphisms and the Risk of Sporadic Breast Cancer in Han Women in the Gansu Province of China
Zhu G, Wang L, Guo H, Lu L, Yang S, Wang T, Guo H, Wang H, Min J, Yang K, Chen X, Liu Y, Wang Z, Su H. DNA Repair Genes XRCC1 and ERCC1 Polymorphisms and the Risk of Sporadic Breast Cancer in Han Women in the Gansu Province of China. Genetic Testing And Molecular Biomarkers 2015, 19: 387-393. PMID: 25961110, DOI: 10.1089/gtmb.2015.0001.Peer-Reviewed Original ResearchConceptsBreast cancerSporadic breast cancerProgesterone receptorEstrogen receptorHan womenSingle nucleotide polymorphismsXRCC1 rs25487 polymorphismDisease-free controlsDNA repair gene XRCC1DNA damage repair genesBreast cancer susceptibilityRisk of diseaseDNA repair capacityERCC1 polymorphismsRs25487 polymorphismGG genotypeAA genotypeXRCC1 rs25487Significant associationDisease riskCancerGene XRCC1GC haplotypeCancer susceptibilityRepair capacity
2014
Cross-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 ancestry
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 malignancyE2C2AncestryReplicationCancerVariantsPolymorphisms 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
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 casesFunctional study of risk loci of stem cell-associated gene lin-28B and associations with disease survival outcomes in epithelial ovarian cancer
Lu L, Katsaros D, Mayne ST, Risch HA, Benedetto C, Canuto EM, Yu H. Functional study of risk loci of stem cell-associated gene lin-28B and associations with disease survival outcomes in epithelial ovarian cancer. Carcinogenesis 2012, 33: 2119-2125. PMID: 22822098, DOI: 10.1093/carcin/bgs243.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overCarcinoma, Ovarian EpithelialCircular DichroismCohort StudiesFemaleFollow-Up StudiesHumansMiddle AgedNeoplasm StagingNeoplasms, Glandular and EpithelialNeoplastic Stem CellsNucleic Acid ConformationOvarian NeoplasmsPolymorphism, Single NucleotidePrognosisPromoter Regions, GeneticQuantitative Trait LociReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRisk FactorsRNA, MessengerRNA-Binding ProteinsSurvival RateConceptsSingle nucleotide polymorphismsOvarian cancerEpithelial ovarian cancer survivalCancer-related risk factorsEpithelial ovarian cancerOvarian cancer survivalOvarian cancer prognosisHigher mortality riskCell-associated markersPrimary EOC tissuesLin-28BStem cell-associated markersAssociation of genotypesDominant modelPatient survivalSurvival outcomesBorderline significanceEOC tissuesCancer survivalRisk factorsReal-time PCRMortality riskCancer prognosisMultivariate analysisPotential biomarkers