Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease

Autor:	Donald E. Schmechel, P. C. Gaskell, John C.S. Breitner, Margaret A. Pericak-Vance, Carolyn Rosenberg, Kathleen A. Welsh-Bohmer, Barbara J. Crain, Christine M. Hulette, James R. Burke, Ann M. Saunders, Mark J. Alberts, Warren J. Strittmatter, A. D. Roses, S. V. Scott
Rok vydání:	1996
Předmět:	Apolipoprotein E medicine.medical_specialty Pathology Genotype Molecular Sequence Data Sensitivity and Specificity Gastroenterology Central nervous system disease Apolipoproteins E Alzheimer Disease Predictive Value of Tests Internal medicine medicine Humans Allele Genotyping Alleles Base Sequence business.industry General Medicine medicine.disease Confidence interval Predictive value of tests Alzheimer's disease business
Zdroj:	The Lancet. 348:90-93
ISSN:	0140-6736
DOI:	10.1016/s0140-6736(96)01251-2
Popis:	Summary Background We aimed to determine the specificity, sensitivity, and predictive value of apolipoprotein E (APOE) genotyping in 67 consecutive patients with clinical diagnoses of sporadic Alzheimer's disease (AD) who underwent necropsy. Methods We studied patients who attended the Duke Memory Disorders Clinic and were diagnosed as having probable AD. These patients were followed up until they died. APOE genotyping was done during life in most cases, but in some brain tissue obtained at necropsy was used. Members of known AD families were excluded. Findings After neuropathological examination 57 (85%) of 67 of our patients were confirmed as having AD including all 43 who had at least one APOE-e4 allele. None of the patients found not to have AD carried an e4 allele. In this series, the specificity of the e4 allele was 100%, the sensitivity 75%, the positive predictive value 100%, and the negative predictive value 42%. In this necropsy-confirmed series, the e4/e4 genotype predicted AD with 100% accuracy. The e3/e4 and e2/e4 genotypes were also unexpectedly highly specific for AD. Interpretation Data from hundreds of necropsy-confirmed non-AD patients in other longitudinal necropsy series will allow the predictive value of APOE genotypes to be assessed with useful confidence limits.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7369bf4c3505073c7da0537c88113e https://doi.org/10.1016/s0140-6736(96)01251-2 Zobrazit plný text záznamu Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.