2025
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis
Cornejo-Sanchez D, Bharadwaj T, Dong R, Wang G, Schrauwen I, DeWan A, Leal S. Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. European Journal Of Human Genetics 2025, 1-10. PMID: 40055553, DOI: 10.1038/s41431-025-01789-x.Peer-Reviewed Original ResearchRare-variantsHearing loss genesAssociated with HLNon-syndromicAssociation analysisHL geneHearing phenotypeUK BiobankMinor allele frequencyOlder adultsSensorineural disorderARHLEffect sizeWhite EuropeansAssociated with genesAge-relatedIn silico analysisAnalysis of variantsExome dataAssociationGenes i.Allele frequenciesHLGenesPresbycusisThe case-only design is a powerful approach to detect interactions but should be used with caution
Dong R, Wang G, DeWan A, Leal S. The case-only design is a powerful approach to detect interactions but should be used with caution. BMC Genomics 2025, 26: 222. PMID: 40050722, PMCID: PMC11884093, DOI: 10.1186/s12864-025-11318-1.Peer-Reviewed Original ResearchConceptsCase-only designRare disease assumptionType I error rateIncreased type I error ratesDisease prevalenceInvestigated type I errorComplex traitsInteraction termsInteraction effect sizesDetect interactionsCase-control designControlled type I error ratesSample sizeHigher disease prevalenceEffect sizeLow disease prevalenceType I errorPrevalenceExposure frequencyGenesType I andDesign studyEnvironmental factorsTraitsEnvironment interaction
2024
LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information
Dong Z, Jiang W, Li H, DeWan A, Zhao H. LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information. Briefings In Bioinformatics 2024, 25: bbae335. PMID: 38980374, PMCID: PMC11232466, DOI: 10.1093/bib/bbae335.Peer-Reviewed Original ResearchConceptsHuman complex traitsComplex traitsGene-environment interactionsGene-environmentLinkage disequilibriumPhenotypic variance componentsPhenotypic varianceProportion of phenotypic varianceSummary statisticsEuropean ancestry subjectsUK Biobank dataAssociation summary statisticsComplete linkage disequilibriumControlled type I error ratesLD informationLD matrixVariance componentsBiobank dataType I error rateEuropean ancestrySample size increaseGenetic effectsTraitsE-I pairsSimulation studyA Genome-wide Association Study of Susceptibility to Upper Urinary Tract Infections
Flatby H, Ravi A, Liyanarachi K, Afset J, Rasheed H, Brumpton B, Hveem K, Åsvold B, DeWan A, Solligård E, Damås J, Rogne T. A Genome-wide Association Study of Susceptibility to Upper Urinary Tract Infections. The Journal Of Infectious Diseases 2024, 230: e1334-e1343. PMID: 38713594, PMCID: PMC11646603, DOI: 10.1093/infdis/jiae231.Peer-Reviewed Original ResearchGenome-wide association studiesMichigan Genomics InitiativeAssociation studiesUpper UTIMendelian randomizationMR analysisUpper urinary tract infectionRisk factorsPotential causal risk factorsCardiometabolic risk factorsModifiable risk factorsSex-stratified analysesCausal risk factorUrinary tract infectionGenome-wideFemale-only analysisGenetic lociPotential causal relationshipGenome InitiativeHealth StudyUK BiobankHLA-DQA2LociTract infectionsSmoking scoreAnticoagulation in Patients with Premature Peripheral Artery Disease Undergoing Lower Extremity Revascularization
Kim T, DeWan A, Murray M, Wang H, Mani A, Mena-Hurtado C, Guzman R, Ochoa Chaar C. Anticoagulation in Patients with Premature Peripheral Artery Disease Undergoing Lower Extremity Revascularization. Annals Of Vascular Surgery 2024, 105: 150-157. PMID: 38593922, DOI: 10.1016/j.avsg.2024.02.006.Peer-Reviewed Original ResearchPremature peripheral arterial diseaseAntiplatelet therapyVascular Quality InitiativeArtery diseaseAdjunct to antiplatelet therapyReturn to the operating roomPost-operative anticoagulationCompared to patientsPostoperative antiplatelet therapyOne-year outcomesCongestive heart failureLower extremity revascularizationMajor adverse limb eventsCoronary artery diseaseEffects of anticoagulantsAmputation-free survivalEarly onset of diseaseAdverse limb eventsPeripheral vascular interventionsOnset of diseasePeripheral arterial diseaseLower-extremity revascularizationPropensity score matchingPerioperative mortalityBaseline characteristicsA mediation analysis framework based on variance component to remove genetic confounding effect
Dong Z, Zhao H, DeWan A. A mediation analysis framework based on variance component to remove genetic confounding effect. Journal Of Human Genetics 2024, 69: 301-309. PMID: 38528049, DOI: 10.1038/s10038-024-01232-x.Peer-Reviewed Original ResearchMediation analysis frameworkSingle nucleotide polymorphismsMediation analysisPleiotropic single nucleotide polymorphismsUK Biobank dataConfounding effectsTrait pairsBiobank dataIndividual-levelEpidemiological studiesCausal effectsGenetic signalsEstimated effectsLinear regressionNucleotide polymorphismsStandard errorData analysisGenetic correlationsPhenotypeIndirect effectsPleiotropyVariance componentsOutcomesRegression
2023
Systematic review and meta-analysis of the genetics of peripheral arterial disease
Ochoa Chaar C, Kim T, Alameddine D, DeWan A, Guzman R, Dardik A, Grossetta Nardini H, Wallach J, Kullo I, Murray M. Systematic review and meta-analysis of the genetics of peripheral arterial disease. JVS Vascular Science 2023, 5: 100133. PMID: 38314202, PMCID: PMC10832467, DOI: 10.1016/j.jvssci.2023.100133.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesDNA variantsWide association studyRecent genome-wide association studiesSmall candidate gene studiesCandidate gene studiesGWAS studiesCandidate genesAssociation studiesGene studiesGenetic researchGeneticsOnly variantVariantsHepatic lipaseGenesProgressionSignificant variationDigital biobanks are underutilized in dermatology and create opportunities to reduce the burden of skin disease
Jumonville G, Hong D, Khan A, DeWan A, Leal S, Weng C, Petukhova L. Digital biobanks are underutilized in dermatology and create opportunities to reduce the burden of skin disease. British Journal Of Dermatology 2023, 190: 566-568. PMID: 37936310, PMCID: PMC10941321, DOI: 10.1093/bjd/ljad439.Peer-Reviewed Original ResearchConceptsBurden of skin diseaseGenetic architectureDiscover genesGenetic dataGene-environment interactionsClinical areasBiobank dataHealth dataMedical careDisease mechanismsGlobal burdenDisease relationshipsMedical interventionsDrug repurposingPharmacogenetic relationshipBiobankSkin diseasesGlobal burden of skin diseaseGenesKnowledge promisesAdverse eventsCareDermatologyHealthDiseaseMendelian randomization study of birthweight, gestational age, and risk of childhood acute lymphoblastic leukemia
Rogne T, DeWan A, Metayer C, Wiemels J, Ma X. Mendelian randomization study of birthweight, gestational age, and risk of childhood acute lymphoblastic leukemia. American Journal Of Obstetrics & Gynecology MFM 2023, 5: 101058. PMID: 37330008, DOI: 10.1016/j.ajogmf.2023.101058.Peer-Reviewed Original ResearchVariants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population
DeWan A, Cahill M, Cornejo-Sanchez D, Li Y, Dong Z, Fabiha T, Sun H, Wang G, Leal S. Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population. Frontiers In Genetics 2023, 14: 1129389. PMID: 37377600, PMCID: PMC10291233, DOI: 10.3389/fgene.2023.1129389.Peer-Reviewed Original ResearchComplex traitsGenome-wide significant variantsFine-mapping analysisGenomic regionsMajor genetic componentAssociation analysisSusceptibility variantsGenetic componentSignificant variantsGenetic variantsSuggestive associationTraitsPhenotypeVariantsBiobank dataGenesNon-overlapping regionsRegionJAZF1Univariate association analysisType 2 diabetesComparison of multiple imputation and other methods for the analysis of imputed genotypes
Auer P, Wang G, Li G, DeWan A, Leal S. Comparison of multiple imputation and other methods for the analysis of imputed genotypes. BMC Genomics 2023, 24: 303. PMID: 37277705, PMCID: PMC10242917, DOI: 10.1186/s12864-023-09415-0.Peer-Reviewed Original ResearchComparative Analysis of Reinterventions After Lower Extremity Revascularization Between the Sexes
Terrazos-Moreno R, Satam K, Zhuo H, Alameddine D, DeWan A, Mena-Hurtado C, Guzman R, Chaar C. Comparative Analysis of Reinterventions After Lower Extremity Revascularization Between the Sexes. Journal Of Vascular Surgery 2023, 77: e47-e49. DOI: 10.1016/j.jvs.2023.03.045.Peer-Reviewed Original ResearchSaddlepoint approximations to score test statistics in logistic regression for analyzing genome‐wide association studies
Johnsen P, Bakke Ø, Bjørnland T, DeWan A, Langaas M. Saddlepoint approximations to score test statistics in logistic regression for analyzing genome‐wide association studies. Statistics In Medicine 2023, 42: 2746-2759. PMID: 37094813, DOI: 10.1002/sim.9746.Peer-Reviewed Original ResearchInferring feature importance with uncertainties with application to large genotype data
Johnsen P, Strümke I, Langaas M, DeWan A, Riemer-Sørensen S. Inferring feature importance with uncertainties with application to large genotype data. PLOS Computational Biology 2023, 19: e1010963. PMID: 36917581, PMCID: PMC10038287, DOI: 10.1371/journal.pcbi.1010963.Peer-Reviewed Original ResearchDyslipidemia and Risk of Preeclampsia: A Multiancestry Mendelian Randomization Study
Hosier H, Lipkind H, Rasheed H, DeWan A, Rogne T. Dyslipidemia and Risk of Preeclampsia: A Multiancestry Mendelian Randomization Study. Hypertension 2023, 80: 1067-1076. PMID: 36883459, DOI: 10.1161/hypertensionaha.122.20426.Peer-Reviewed Original ResearchConceptsRisk of preeclampsiaProtective effectCholesteryl Ester Transfer Protein InhibitionLack of effectMendelian randomization studyMendelian randomization analysisMaternal morbidityElevated HDLLeading causeLipid levelsObservational studyPreeclampsiaLipid measurementsReduced riskAncestry groupsPharmacological targetsRandomization studyHDLLDLRandomization analysisSingle nucleotide polymorphismsNew targetsDyslipidemiaRiskProtein inhibitionEarly-Onset Colorectal Cancer Somatic Gene Mutations by Population Subgroups.
Shen X, DeWan A, Johnson C. Early-Onset Colorectal Cancer Somatic Gene Mutations by Population Subgroups. Cancer Discovery 2023, 13: 530-531. PMID: 36855917, DOI: 10.1158/2159-8290.cd-22-1464.Peer-Reviewed Original ResearchThe genetic contribution of the X chromosome in age-related hearing loss
Naderi E, Cornejo-Sanchez D, Li G, Schrauwen I, Wang G, Dewan A, Leal S. The genetic contribution of the X chromosome in age-related hearing loss. Frontiers In Genetics 2023, 14: 1106328. PMID: 36896235, PMCID: PMC9988903, DOI: 10.3389/fgene.2023.1106328.Peer-Reviewed Original ResearchX chromosomeChromosome XGenome-wide significance levelMRNA expression analysisExpression analysisChromosomesAssociation analysisGenetic variantsCommon sensory impairmentGenetic contributionAnalysis of malesAge-related hearing lossHair cellsInner ear tissuesInner hair cellsUK BiobankARHLVariantsHuman inner ear tissueEar tissueGenesLociHeritabilitySex-stratified analysesCellsRare-variant association analysis reveals known and new age-related hearing loss genes
Cornejo-Sanchez D, Li G, Fabiha T, Wang R, Acharya A, Everard J, Kadlubowska M, Huang Y, Schrauwen I, Wang G, DeWan A, Leal S. Rare-variant association analysis reveals known and new age-related hearing loss genes. European Journal Of Human Genetics 2023, 31: 638-647. PMID: 36788145, PMCID: PMC10250305, DOI: 10.1038/s41431-023-01302-2.Peer-Reviewed Original ResearchType 2 cytokine genes as allergic asthma risk factors after viral bronchiolitis in early childhood
Dong Z, Myklebust Å, Johnsen I, Jartti T, Døllner H, Risnes K, DeWan A. Type 2 cytokine genes as allergic asthma risk factors after viral bronchiolitis in early childhood. Frontiers In Immunology 2023, 13: 1054119. PMID: 36685501, PMCID: PMC9852873, DOI: 10.3389/fimmu.2022.1054119.Peer-Reviewed Original ResearchConceptsAllergic asthmaViral bronchiolitisRisk factorsViral infectionDetailed lung function testsAllergic asthma developmentHistory of bronchiolitisHuman Metapneumovirus InfectionVariable airway obstructionAsthma risk factorsType 2 cytokinesDevelopment of asthmaLung function testsGenetic variantsCohort of childrenSpecific viral infectionsEarly childhoodType 2 cytokine genesSchool agePotential candidate targetAirway obstructionMetapneumovirus infectionMedian ageAsthma developmentFunction testsDyslipidemia and risk of hypertensive disorders of pregnancy: a multi-ancestry Mendelian Randomization study
Hosier H, Lipkind H, DeWan A, Rogne T. Dyslipidemia and risk of hypertensive disorders of pregnancy: a multi-ancestry Mendelian Randomization study. American Journal Of Obstetrics And Gynecology 2023, 228: s141-s142. DOI: 10.1016/j.ajog.2022.11.280.Peer-Reviewed Original Research
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