Quantifying prion disease penetrance using large population control cohorts
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O’Donnell-Luria A, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Consortium E, Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine 2016, 8: 322ra9. PMID: 26791950, PMCID: PMC4774245, DOI: 10.1126/scitranslmed.aad5169.Peer-Reviewed Original ResearchConceptsPrion protein genePopulation control cohortPrion disease casesHealthy older individualsPrion protein expressionControl cohortLifetime riskTherapeutic suppressionDisease casesTruncating variantsDisease-causing genotypesOlder individualsBenign variantsDisease prevalenceProtein expressionDisease penetranceDiseaseMissense variantsPrion diseasesControl exomesDisease susceptibilityImpact of variantsGenetic variantsRiskPenetrance
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