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
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 eventsCareDermatologyHealthDiseaseVariants 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 diabetesThe 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 analysesCells
2006
HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
DeWan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J. HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration. Science 2006, 314: 989-992. PMID: 17053108, DOI: 10.1126/science.1133807.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAsian PeopleChromatin ImmunoprecipitationChromosomes, Human, Pair 10FemaleGenetic Predisposition to DiseaseGenotypeHeLa CellsHigh-Temperature Requirement A Serine Peptidase 1HumansLinkage DisequilibriumMacular DegenerationMaleMiddle AgedPolymorphism, Single NucleotidePromoter Regions, GeneticRetinal NeovascularizationSerine EndopeptidasesSerum Response FactorTranscription Factor AP-2ConceptsAssociation mapping strategySerine protease genesSingle nucleotide polymorphismsHTRA1 promoter polymorphismPromoter regionProtease geneChromosome 10q26H geneRisk-associated genotypesGenesGenetic risk factorsMajor genetic risk factorWild-type genotypeFactor H genePolymorphismGenotypesMapping strategyComplement factor H (CFH) genePromoter polymorphismHtrA1Age-related macular degeneration
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