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, 33: 758-767. PMID: 40055553, PMCID: PMC12185688, 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
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