APOE genotype in the diagnosis of Alzheimer's disease in patients with cognitive impairment

American Journal of Alzheimer's Disease and other Dementias

Volumn 27, Issue 5, 2012, Pages 315-320

  Sun, Xiaoyan ^a   Nicholas, Joyce ^a   Walker, Aljoeson ^a   Wagner, Mark T ^a   Bachman, David ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Alzheimer's disease; APOE; APOE ?4; positive predictive value; sensitivity

Indexed keywords

APOLIPOPROTEIN E; APOLIPOPROTEIN E4;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; APOE GENE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; EDUCATIONAL STATUS; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE; GENE FREQUENCY; GENOTYPE; GROUPS BY AGE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MILD COGNITIVE IMPAIRMENT; MINI MENTAL STATE EXAMINATION; ONSET AGE; PREDICTIVE VALUE; REVIEW; SENSITIVITY AND SPECIFICITY;

EID: 84864185673     PISSN: 15333175     EISSN: 19382731     Source Type: Journal    
DOI: 10.1177/1533317512452037     Document Type: Review

References (35)

1. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993 ; 90 (5). 1977-1981 (Pubitemid 23069980)
2. Verghese PB, Castellano JM, Holtzman DM. Apolipoprotein E in Alzheimer's disease and other neurological disorders. Lancet Neurol. 2011 ; 10 (3). 241-252
3. Farrer LA, Cupples LA, Haines JL, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA.. 1997 ; 278 (16). 1349-1356 (Pubitemid 27449696)
4. Roses AD. Apolipoprotein E alleles as risk factors in Alzheimer's disease. Annu Rev Med. 1996 ; 47: 387-400 (Pubitemid 26138899)
5. Huang Y. A beta-independent roles of apolipoprotein E4 in the pathogenesis of Alzheimer's disease. Trends Mol Med. 2010 ; 16 (6). 287-294
6. Degerman Gunnarsson M, Lindau M, Wall A, et al. Pittsburgh compound-B and Alzheimer's disease biomarkers in CSF, plasma and urine: an exploratory study. Dement Geriatr Cogn Disord. 2010 ; 29 (3). 204-212
7. Schmechel DE, Saunders AM, Strittmatter WJ, et al. Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci U S A. 1993 ; 90 (20). 9649-9653 (Pubitemid 23315843)
8. Strittmatter WJ, Weisgraber KH, Huang DY, et al. Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci U S A. 1993 ; 90 (17). 8098-8102 (Pubitemid 23260862)
9. Filippini N, MacIntosh BJ, Hough MG, et al. Distinct patterns of brain activity in young carriers of the APOE-epsilon4 allele. Proc Natl Acad Sci U S A. 2009 ; 106 (17). 7209-7214
10. Sheline YI, Morris JC, Snyder AZ, et al. APOE4 allele disrupts resting state fMRI connectivity in the absence of amyloid plaques or decreased CSF Abeta42. J Neurosci. 2010 ; 30 (50). 17035-17040
11. Geroldi C, Pihlajamaki M, Laakso MP, et al. APOE-epsilon4 is associated with less frontal and more medial temporal lobe atrophy in AD. Neurology. 1999 ; 53 (8). 1825-1832 (Pubitemid 29530361)
12. Hashimoto M, Yasuda M, Tanimukai S, et al. Apolipoprotein E epsilon 4 and the pattern of regional brain atrophy in Alzheimer's disease. Neurology. 2001 ; 57 (8). 1461-1466 (Pubitemid 32995729)
13. Jack CR, Petersen RC, Xu YC, et al. Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease. Ann Neurol. 1998 ; 43 (3). 303-310 (Pubitemid 28113592)
14. Pievani M, Galluzzi S, Thompson PM, Rasser PE, Bonetti M, Frisoni GB. APOE4 is associated with greater atrophy of the hippocampal formation in Alzheimer's disease. Neuroimage. 2011 ; 55 (3). 909-919
15. Saunders AM, Hulette O, Welsh-Bohmer KA, et al. Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet. 1996 ; 348 (9020). 90-93 (Pubitemid 26234356)
16. Tsuang D, Larson EB, Bowen J, et al. The utility of apolipoprotein E genotyping in the diagnosis of Alzheimer disease in a community-based case series. Arch Neurol. 1999 ; 56 (12). 1489-1495
17. Welsh-Bohmer KA, Gearing M, Saunders AM, Roses AD, Mirra S. Apolipoprotein E genotypes in a neuropathological series from the Consortium to Establish a Registry for Alzheimer's Disease. Ann Neurol. 1997 ; 42 (3). 319-325 (Pubitemid 27391115)
18. Diagnostic and Statistical Manual of Mental Disorders. 3 rd ed. Washington, DC: American Psychiatric Association; 1987. Washington, DC: American Psychiatric Association ; 1987 :
19. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology. 1984 ; 34 (7). 939-944 (Pubitemid 14076461)
20. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993 ; 261 (5123). 921-923 (Pubitemid 23275809)
21. Mayeux R, Saunders AM, Shea S, et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. N Engl J Med.. 1998 ; 338 (8). 506-511
22. McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement. 2011 ; 7 (3). 263-269
23. Salloway S, Sperling R, Gilman S, et al. A phase 2 multiple ascending dose trial of bapineuzumab in mild to moderate Alzheimer disease. Neurology. 2009 ; 73 (24). 2061-2070
24. Bickeboller H, Campion D, Brice A, et al. Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex. Am J Hum Genet. 1997 ; 60 (2). 439-446 (Pubitemid 27058416)
25. Sando SB, Melquist S, Cannon A, et al. APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway. BMC Neurol. 2008 ; 8: 9
26. Ashford JW, Mortimer JA. Non-familial Alzheimer's disease is mainly due to genetic factors. J Alzheimers Dis. 2002 ; 4 (3). 169-177 (Pubitemid 35006049)
27. Poirier J, Davignon J, Bouthillier D, Kogan S, Bertrand P, Gauthier S. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet. 1993 ; 342 (8873). 697-699 (Pubitemid 23279761)
28. Kakulas BA, Wilton SD, Fabian VA, Jones TM. Apolipoprotein-E genotyping in diagnosis of Alzheimer's disease. Lancet. 1996 ; 348 (9025). 483
29. McConnell LM, Sanders GD, Owens DK. Evaluation of genetic tests. APOE genotyping for the diagnosis of Alzheimer disease. Genet Test.. 1999 ; 3 (1). 47-53 (Pubitemid 29239635)
30. Slooter AJ, Breteler MB, Ott A, Van Broeckhoven C, van Duijn CM. APOE genotyping in differential diagnosis of Alzheimer's disease. Lancet. 1996 ; 348 (9023). 334 (Pubitemid 26254641)
31. Smith AD, Jobst KA, Johnston C, Joachim C, Nagy Z. Apolipoprotein-E genotyping in diagnosis of Alzheimer's disease. Lancet. 1996 ; 348 (9025). 483-484 (Pubitemid 26267901)
32. Geslani DM, Tierney MC, Herrmann N, Szalai JP. Mild cognitive impairment: an operational definition and its conversion rate to Alzheimer's disease. Dement Geriatr Cogn Disord. 2005 ; 19 (5-6). 383-389 (Pubitemid 40663336)
33. Petersen RC, Thomas RG, Grundman M, et al. Vitamin E and donepezil for the treatment of mild cognitive impairment. N Engl J Med. 2005 ; 352 (23). 2379-2388 (Pubitemid 40958434)
34. Schmidtke K, Hermeneit S. High rate of conversion to Alzheimer's disease in a cohort of amnestic MCI patients. Int Psychogeriatr. 2008 ; 20 (1). 96-108 (Pubitemid 350256058)
35. Jack CR, Knopman DS, Jagust WJ, et al. Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol. 2010 ; 9 (1). 119-128