2024
Folate metabolism and risk of childhood acute lymphoblastic leukemia: a genetic pathway analysis from the Childhood Cancer and Leukemia International Consortium
Metayer C, Spector L, Scheurer M, Jeon S, Scott R, Takagi M, Clavel J, Manabe A, Ma X, Hailu E, Lupo P, Urayama K, Bonaventure A, Kato M, Meirhaeghe A, Chiang C, Morimoto L, Wiemels J. Folate metabolism and risk of childhood acute lymphoblastic leukemia: a genetic pathway analysis from the Childhood Cancer and Leukemia International Consortium. Cancer Epidemiology Biomarkers & Prevention 2024, 33: 1248-1252. PMID: 38904462, PMCID: PMC11369612, DOI: 10.1158/1055-9965.epi-24-0189.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsGenome-wide dataAncestry groupsFolate metabolic pathwayGenetic variantsChildhood cancerMetabolic pathwaysGenetic pathway analysisRisk of childhood ALLRisk of childhood acute lymphoblastic leukemiaGene-folate interactionsChildhood ALL riskCase-control studyDNA methylationMETAL softwareGenetic studiesNucleotide polymorphismsPathway analysisMeta-analysis of original dataALL riskGenetic effectsAncestryFolate pathwayMaternal genetic effectsFolate intake
2022
Incorporation of DNA methylation quantitative trait loci (mQTLs) in epigenome-wide association analysis: application to birthweight effects in neonatal whole blood
Li S, Mancuso N, Metayer C, Ma X, de Smith A, Wiemels J. Incorporation of DNA methylation quantitative trait loci (mQTLs) in epigenome-wide association analysis: application to birthweight effects in neonatal whole blood. Clinical Epigenetics 2022, 14: 158. PMID: 36457128, PMCID: PMC9714153, DOI: 10.1186/s13148-022-01385-6.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociSingle nucleotide polymorphismsDNA methylationGenetic variationDNA methylation quantitative trait lociGenetic effectsDiverse genetic ancestryEPIC arrayCpG island shore regionQuantitative trait lociDNA methylation dataEpigenome-wide association analysisTrait lociDevelopmental traitsEWAS resultsGenetic elementsGene expressionMethylation dataAssociation studiesK arrayAssociation analysisCertain lociMethylation levelsIllumina 450Top hitsInvestigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia
Xu K, Li S, Pandey P, Kang AY, Morimoto LM, Mancuso N, Ma X, Metayer C, Wiemels JL, de Smith AJ. Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia. Human Molecular Genetics 2022, 31: 3741-3756. PMID: 35717575, PMCID: PMC9616572, DOI: 10.1093/hmg/ddac137.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesSingle nucleotide polymorphismsGenetic risk lociDNA methylationRisk single nucleotide polymorphismsRisk lociAssociation studiesHeritable genetic variationGenome-wide association studiesMost single nucleotide polymorphismsDNA methylation differencesNon-European populationsEpigenetic mechanismsGenetic variationMethylation differencesSignificant DMPsPromoter regionFunctional pathwaysCpG positionsAssociation analysisFunctional roleMethylationNucleotide polymorphismsLociBlood DNA
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 riskEpigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome
Li S, Sok P, Xu K, Muskens I, Elliott N, Myint S, Pandey P, Hansen H, Morimoto L, Kang A, Metayer C, Ma X, Mueller B, Roy A, Roberts I, Rabin K, Brown A, Lupo P, Wiemels J, de Smith A. Epigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome. Blood 2021, 138: 214. DOI: 10.1182/blood-2021-151454.Peer-Reviewed Original ResearchEpigenome-wide association studiesB cell proportionsAcute lymphoblastic leukemiaNon-DS populationCell type proportionsDNA methylation dataSingle nucleotide polymorphismsDS-ALLCell proportionAssociation studiesDS controlBlood cell proportionsLymphoblastic leukemiaMethylation dataGenome-wide DNA methylation arraysGenome-wide SNP array dataB-cell acute lymphoblastic leukemiaGenome-wide association studiesLeukemic stem cell functionsDiscovery studiesStem cell functionRecent genome-wide association studiesDNA methylation arraysEpigenome-wide significanceNatural killer cells
2011
Genetic variation in nucleotide excision repair pathway genes, pesticide exposure and prostate cancer risk
Barry KH, Koutros S, Andreotti G, Sandler DP, Burdette LA, Yeager M, Freeman L, Lubin JH, Ma X, Zheng T, Alavanja MC, Berndt SI. Genetic variation in nucleotide excision repair pathway genes, pesticide exposure and prostate cancer risk. Carcinogenesis 2011, 33: 331-337. PMID: 22102698, PMCID: PMC3271261, DOI: 10.1093/carcin/bgr258.Peer-Reviewed Original ResearchConceptsProstate cancer riskCancer riskSingle nucleotide polymorphismsPesticide exposurePesticide applicatorsPesticide manufacturing workersCase-control studyInteraction p valueProstate cancer casesNucleotide excision repair pathway genesWild-type TT genotypeLogistic regression modelsHuman biomonitoring studiesCancer casesLifetime daysTT genotypeERCC1 rs2298881Male controlsFalse discovery rate methodIntensity scoresSignificant associationNucleotide excision repair pathwayGenotype groupsManufacturing workersUnderlying mechanismGenetic Variation in Base Excision Repair Pathway Genes, Pesticide Exposure, and Prostate Cancer Risk
Barry KH, Koutros S, Berndt SI, Andreotti G, Hoppin JA, Sandler DP, Burdette LA, Yeager M, Freeman LE, Lubin JH, Ma X, Zheng T, Alavanja MC. Genetic Variation in Base Excision Repair Pathway Genes, Pesticide Exposure, and Prostate Cancer Risk. Environmental Health Perspectives 2011, 119: 1726-1732. PMID: 21810555, PMCID: PMC3261977, DOI: 10.1289/ehp.1103454.Peer-Reviewed Original ResearchConceptsProstate cancer riskCancer riskSingle nucleotide polymorphismsPesticide applicatorsCT/TT genotypesPesticide manufacturing workersCase-control studyProstate cancer casesLogistic regression modelsTag single nucleotide polymorphismsBase excision repair pathway genesProstate cancerCancer casesFamily historyOxidative DNA damageTT genotypeCC genotypeMale controlsExposure variablesPesticide exposureBase excision repairManufacturing workersUnderlying mechanismRiskBER genes
2009
Xenobiotic Metabolizing Gene Variants, Dietary Heterocyclic Amine Intake, and Risk of Prostate Cancer
Koutros S, Berndt SI, Sinha R, Ma X, Chatterjee N, Alavanja MC, Zheng T, Huang WY, Hayes RB, Cross AJ. Xenobiotic Metabolizing Gene Variants, Dietary Heterocyclic Amine Intake, and Risk of Prostate Cancer. Cancer Research 2009, 69: 1877-1884. PMID: 19223546, PMCID: PMC2662592, DOI: 10.1158/0008-5472.can-08-2447.Peer-Reviewed Original ResearchConceptsProstate cancer riskProstate cancerOdds ratioCancer riskSingle nucleotide polymorphismsDietary Heterocyclic Amine IntakeOvarian Cancer Screening TrialHeterocyclic amine intakeCancer Screening TrialUnconditional logistic regressionCase-control studyDietary heterocyclic aminesProstate cancer casesHeterocyclic aminesHCA intakeCancer casesLow intakeScreening TrialHCA metabolismMalignant transformationLogistic regressionCancerIntakeGene variantsConfidence intervals