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

作者: AM Saunders , C Hulette , KA Welsh-Bohmer , DE Schmechel , B Crain

DOI: 10.1016/S0140-6736(96)01251-2

关键词: GenotypeCentral nervous system diseaseConfidence intervalAlzheimer's diseasePredictive value of testsGastroenterologyGenotypingAllelePathologyInternal medicineApolipoprotein EMedicine

摘要: Summary Background We aimed to determine the specificity, sensitivity, and predictive value of apolipoprotein E (APOE) genotyping in 67 consecutive patients with clinical diagnoses sporadic Alzheimer's disease (AD) who underwent necropsy. Methods studied attended Duke Memory Disorders Clinic were diagnosed as having probable AD. These followed up until they died. APOE was done during life most cases, but some brain tissue obtained at necropsy used. Members known AD families excluded. Findings After neuropathological examination 57 (85%) our confirmed including all 43 had least one APOE-e4 allele. None found not have carried an e4 In this series, specificity allele 100%, sensitivity 75%, positive negative 42%. necropsy-confirmed e4/e4 genotype predicted 100% accuracy. The e3/e4 e2/e4 genotypes also unexpectedly highly specific for Interpretation Data from hundreds non-AD other longitudinal series will allow be assessed useful confidence limits.

参考文章(31)
A. M. Saunders, W. J. Strittmatter, D. Schmechel, P. H. St. George-Hyslop, M. A. Pericak-Vance, S. H. Joo, B. L. Rosi, J. F. Gusella, D. R. Crapper-MacLachlan, M. J. Alberts, C. Hulette, B. Crain, D. Goldgaber, A. D. Roses, Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. ,vol. 43, pp. 1467- 1472 ,(1993) , 10.1212/WNL.43.8.1467
Lindsay A Farrer, Mitchell F Brin, Louis Elsas, Alison Goate, James Kennedy, Richard Mayeux, Richard H Myers, Philip Reilly, Neil J Risch, None, Statement on Use of Apolipoprotein E Testing for Alzheimer Disease JAMA: The Journal of the American Medical Association. ,vol. 274, pp. 1627- 1629 ,(1995) , 10.1001/JAMA.1995.03530200063039
W. J. Strittmatter, A. M. Saunders, D. Schmechel, M. Pericak-Vance, J. Enghild, G. S. Salvesen, A. D. Roses, Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 90, pp. 1977- 1981 ,(1993) , 10.1073/PNAS.90.5.1977
JohnC.S. Breitner, APOE genotyping and Alzheimer's disease The Lancet. ,vol. 347, pp. 1184- 1185 ,(1996) , 10.1016/S0140-6736(96)90642-X
J Kuusisto, K Koivisto, K Kervinen, L Mykkanen, E-L Helkala, M Vanhanen, T Hanninen, K Pyorala, Y A Kesaniemi, P Riekkinen, M Laasko, Association of apolipoprotein E phenotypes with late onset Alzheimer's disease: population based study. BMJ. ,vol. 309, pp. 636- 638 ,(1994) , 10.1136/BMJ.309.6955.636
H. C. Hendrie, K. S. Hall, S. Hui, F. W. Unverzagt, C. E. Yu, D. K. Lahiri, A. Sahota, M. Farlow, B. Musick, A. Brashear, V. E. Burdine, B. O. Osuntokun, A. O. Ogunniyi, O. Gureje, O. Baiyewu, G. D. Schellenberg, Apolipoprotein E genotypes and Alzheimer's disease in a community study of elderly African Americans Annals of Neurology. ,vol. 37, pp. 118- 120 ,(1995) , 10.1002/ANA.410370123
E. Corder, A. Saunders, W. Strittmatter, D. Schmechel, P. Gaskell, G. Small, A. Roses, J. Haines, M. Pericak-Vance, Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families Science. ,vol. 261, pp. 921- 923 ,(1993) , 10.1126/SCIENCE.8346443