The role of APOE polymorphisms in late-onset dementias

Cellular and Molecular Life Sciences

Volumn 54, Issue 9, 1998, Pages 928-934

  Corder, E H ^a,b   Lannfelt, L ^c   Bogdanovic, N ^c   Fratiglioni, L ^c   Mori, H ^d  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^b DUKE UNIVERSITY   (United States)

^c KAROLINSKA INSTITUTE   (Sweden)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

Alzheimer's disease; Amyloid protein; Apolipoprotein E; Dementia; Genetic epidemiology; Polymorphisms; Susceptibility genes; Tau protein; Transgenic mice

Indexed keywords

AMYLOID BETA PROTEIN; APOLIPOPROTEIN E; TAU PROTEIN;

ALLELE; ALZHEIMER DISEASE; DEMENTIA; ENTORHINAL CORTEX; GENE MUTATION; GENE NUMBER; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HIPPOCAMPUS; HUMAN; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; ONSET AGE; PROMOTER REGION; PROTEIN POLYMORPHISM; REVIEW; SENILE PLAQUE; TRANSGENIC MOUSE;

AGE OF ONSET; AGED; AGED, 80 AND OVER; ALLELES; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; APOLIPOPROTEINS E; BRAIN; DEMENTIA; GENOTYPE; HUMANS; MICE; MICE, TRANSGENIC; MODELS, BIOLOGICAL; NEUROFIBRILLARY TANGLES; POLYMORPHISM, GENETIC; RISK FACTORS; TAU PROTEINS;

EID: 0031655793     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000180050223     Document Type: Review

References (65)

1. Strittmatter W. J., Saunders A. M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G. S. et al. (1993) Apolipoprotein E: high avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer's disease. Proc. Natl. Acad. Sci. USA 90: 1977-1981
2. Saunders A. M., Strittmatter W. J., Schmechel D., St. George-Hyslop P. H., Pericak-Vance M. A., Joo S. H. et al. (1993) Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43: 1467-1472
3. Schellenberg G. D., Deeb S. S., Boehnke M., Bryant E. M., Martin G. M., Lampe T. H. et al. (1987) Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. J. Neurogenet. 4: 97-108
4. Pericak-Vance M. A., Bebout J. L., Gaskell P. C., Yamaoka L. H., Hung W.-Y., Alberts M. J. et al. (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am. J. Hum. Genet. 48: 1034-1050
5. Corder E. H., Saunders A. M., Strittmatter W. J., Schmechel D. C., Gaskell P. C., Small G. W. et al. (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261: 921-923
6. Corder E. H., Saunders A. M., Risch N. J., Strittmatter W. J., Schmechel D. C., Gaskell P. C. et al. (1994) Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nature Genet. 7: 180-184
7. Strittmatter W. J. and Roses A. D. (1996) Apolipoprotein E and Alzheimer's disease. Ann. Rev. Neurosci. 19: 53-77
8. Lendon C. L., Ashall F. D. and Goate A. M. (1997) Exploring the etiology of Alzheimer disease using molecular genetics. JAMA 277: 825-831
9. Osuntokun B. O., Sahota A., Ogunniyi A. O., Gureje O., Baiyewu O., Adeyinka A. et al. (1995) Lack of an association between apolipoprotein E epsilon 4 and Alzheimer's disease in elderly Nigerians. Ann. Neurol. 38: 463-465
10. Maestre G., Ottman R., Stern Y., Gurland B., Chun M., Tang M. X. et al. (1995) Apolipoprotein E and Alzheimer's disease: ethnic variation in genotypic risks. Ann. Neurol. 37: 254-259
11. Yamagata Z., Asada T., Kinoshita A., Zhang Y. and Asaka A. (1997) Distribution of apolipoprotein E gene polymorphisms in Japanese patients with Alzheimer's disease and in Japanese centenarians. Hum. Hered. 47: 22-26
12. Nunomura A., Chiba S., Eto M., Saito M., Makino I., Miyagishi T. et al. (1996) Apolipoprotein E polymorphism and susceptibility to early- and late-onset sporadic Alzheimer's disease in Hokkaido, the northern part of Japan. Neurosci. Lett. 206: 17-20
13. Roses A. D., Strittmatter W. J., Pericak-Vance M. A., Corder E. H., Saunders A. M. and Schmechel D. E. (1994) Clinical application of apolipoprotein E genotyping to Alzheimer's disease. Lancet 343: 1564-1565
14. Saunders A. M., Hulette O., Welsh-Bohmer K. A., Schmechel D. E., Crain B., Burke J. R. et al. (1996) Specificity, sensitivity and predictive value of apolipoprotein E genotyping for sporadic Alzheimer's disease. Lancet 348: 90-93
15. Sobel E., Louhija J., Sulkava R., Davanipour Z., Kontula K., Miettinen H. et al. (1995) Lack of association of apolipoprotein E allele epsilon 4 with late-onset Alzheimer's disease among Finnish centenarians. Neurology 45: 903-907
16. Corder E. H., Basun H., Lannfelt L., Viitanen M. and Winblad B. (1996) Attenuation of apolipoprotein E ε4 gene dose effect in late age. Lancet 347: 542
17. Mayeux R., Ottman R., Maestre G., Ngai C., Tang M. X., Ginsberg H. et al. (1995) Synergistic effects of traumatic head injury and apolipoprotein-epsilon 4 in patients with Alzheimer's disease. Neurology. 45: 555-557
18. Schofield P. W., Tang M., Marder K., Bell K., Dooneief G., Chun M. et al. (1997) Alzheimer's disease after remote head injury: an incidence study. J. Neurol. Neurosurg. Psychiatry 62: 119-124
19. Bullido M. J., Artiga M. J., Recuero M., Sastre I., Garcia M. A., Aldudo J. et al. (1998) A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia. Nature Genet. 18: 69-71
20. Corder E. H., Saunders A. M., Strittmatter W. J., Schmechel D. E., Gaskell P. C., Rimmler J. B. et al. (1995) Apolipoprotein E, survival in Alzheimer disease patients, and the competing risks of death and Alzheimer disease. Neurology 45: 1323-1328
21. Basun H., Grut M., Winblad B. and Lannfelt L. (1995) Apolipoprotein ε4 allele and disease progression in patients with late-onset Alzheimer's disease. Neurosci. Lett. 183: 32-34
22. Norman J., Brookes A. J., Yates C. and St. Clair D. (1995) Apolipoprotein E genotype and its effect on duration and severity of early and late onset Alzheimer's disease. Br. J. Psychiatry. 167: 533-536
23. Dal-Forno G., Rasmusson D. X., Brandt J., Carson K. A., Brookmeyer R., Troncoso J. et al. (1996) Apolipoprotein E genotype and rate of decline in probable Alzheimer's disease. Arch. Neurol. 53: 345-350
24. Corder E. H., Lannfelt L. and Basun H. (1996) Apolipoprotein E genotype and the rate of decline in probable Alzheimer disease. Arch. Neurol. 53: 1094-1095
25. Davignon J., Gregg R. E. and Sing C. F. (1988) Apolipoprotein E polymophism and atherosclerosis. Atherosclerosis 8: 1-21
26. Hixson J. E., for the Pathological Determinants of Atherosclerosis in Youth (PDAY) Research Group (1993) Apolipoprotein E polymorphism affects atherosclerosis in young males. Arterioscler. Thromb. 11: 1237-1244
27. Eggertsen G., Tegelman R., Ericsson S., Angelin B. and Berglund L. (1993) Apolipoprotein E polymorphism in a healthy Swedish population: variation of allele frequency with age and relation to serum lipid concentrations. Clin. Chem. 39: 2125-2129
28. Luc G., Bard J. M., Arveiler D., Evans A., Cambou J. P., Bingham A. et al. (1994) Impact of apolipoprotein E polymorphism on lipoproteins and risk of myocardial infarction: the ETIM study. Arterioscler. Thromb. 14: 1412-1419
29. Van Bockxmeer F. M. and Mamotte C. D. (1992) Apolipoprotein epsilon 4 homozygosity in young men with coronary heart disease. Lancet 340: 879-880
30. Eichner J. E., Kuller L. H., Orchard T. J., Grandits G. A., McCallum L. M., Ferrell R. E. et al. (1993) Relation of apolipoprotein E phenotype to myocardial infarction and mortality from coronary artery disease. Am. J. Cardiol. 71: 160-165
31. Tiret L., de Knijgg P., Menzel H. J., Ehnholm C., Nicaud V., Havekes L. M., for the European Atherosclerosis Research (EARS) Study Group (1994) ApoE polymorphism and predisposition to coronary heart disease in youths of different European populations. Arterioscler. Thromb. 14: 1617-1624
32. Basun H., Corder E. H., Guo Z., Lannfelt L., Corder L. S. and Manton K. G. (1996) APOE polymorphism and stroke in a population sample aged 75 years or more. Stroke 27: 1310-1315
33. Corder E. H., Basun H., Fratiglioni L., Lannfelt L., Viitanen M., Corder L. S. et al. (1997) Does apolipoprotein E polymorphism determine the risk or survivability of cardio- and cerebrovascular diseases? Implications for mortality differentials in late ages. Medizinische Genetik 9: P2.090
34. Sulkava R., Kainulainen K., Verkkoniemi A., Niinisto L., Sobel E., Davanipour Z. et al. (1996) APOE alleles in Alzheimer's disease and vascular dementia in a population aged 85 +. Neurobiol. Aging 17: 373-376
35. Snowdon D. A., Greiner L. H., Mortimer J. A., Riley K. P., Greiner P. A. and Markesbery W. R. (1997) Brain infarction and the clinical expression of Alzheimer disease. The Nun Study. JAMA 277: 813-817
36. Nagy Z., Esiri M. M., Jobst K. A., Morris J. H., King E. M., McDonald B. et al. (1997) The effects of additional pathology on the cognitive deficit in Alzheimer disease. J. Neuropathol. Exp. Neurol. 56: 165-170
37. Schächter F., Faure-Delanef L., Guenot F., Ronger H., Froguel P., Lesueur Ginot L. et al. (1994) Genetic associations with human longevity at the APOE and ACE loci. Nature Genet. 6: 29-32
38. Louhija J., Miettinen H. E., Kontula K., Tikkanen M. J., Miettinen T. A. and Tilvis R. S. (1994) Aging and genetic variation of plasma apolipoproteins. Relative loss of the apolipoprotein ε4 phenotype in centenarians. Arterioscler. Thromb. 14: 1084-1089
39. Corder E. H., Lannfelt L., Viitanen M., Corder L. S., Manton K. G., Winblad B. et al. (1996) Apolipoprotein E genotype determines survival in the oldest old (85 years or older) who have good cognition. Arch. Neurol. 53: 418-422
40. Goate A., Chartier-Harlin M. C., Mullan M., Brown J., Crawford F., Fidani L. et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706
41. Hardy J. (1992) Framing β-amyloid. Nature Genet. 1: 233-234
42. Selkoe D. J. (1997) Alzheimer's disease: genotypes, phenotype and treatments. Science 275: 630-631
43. Lannfelt L. (1997) The Genetics and pathophysiology of Alzheimer's disease. J. Intern. Med. 242: 281-284
44. Citron M., Oltersdorf T., Haass C., McConlogue L., Hung A.Y., Seubert P. et al. (1992) Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production. Nature 360: 672-674
45. Johnston J. A., Cowburn R. F., Norgren S., Wichager B., Venizelos N., Winblad B. et al. (1994) Increased β-amyloid release and levels of amyloid precursor protein (APP) in fibroblast cell lines from family members with the Swedish Alzheimer's disease APP670 671 mutation. FEBS Lett. 354: 274-278
46. Mori H., Takio K., Ogawara M. and Selkoe D. J. (1992) Mass spectrometry of purified amyloid beta protein in Alzheimer's disease. J. Biol. Chem. 267: 17082-17086
47. Scheuner D., Eckman C., Jensen M., Song X., Citron M., Suzuki N. et al. (1996) Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med. 2: 864-870
48. Jarrett J. T. and Lansbury P. T. (1993) Seeding 'one-dimensional crystallization' of amyloid. A pathogenic mechanism in Alzheimer's disease and scrapie? Cell 73: 1055-1058
49. Younkin S.G. (1995) Evidence that A beta 42 is the real culprit in Alzheimer's disease. Ann. Neurol. 37: 287-288
50. Schmechel D. E., Saunders A. M., Strittematter W. J., Crain B. J., Hulette C. M., Joo S. H. et al. (1993) Increased amyloid β-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc. Natl. Acad. Sci. USA 90: 9649-9653
51. Polvikoski T., Sulkava R., Haltia M., Kainulainen K., Vuorio A., Verkkoniemi A. et al. (1995) Apolipoprotein E, dementia and cortical deposition of β-amyloid protein. N. Engl. J. Med. 333: 1242-1247
52. Nicoll J. A., Roberts G. W. and Graham D. I. (1995) Apolipoprotein E epsilon 4 allele is associated with deposition of amyloid beta-protein following head injury. Nature Med. 1: 135-137
53. Ishii K., Tamaoka A., Mizusawa H., Shoji S., Ohtake T., Fraser P. E. et al. (1997) A beta 1 40 but not A beta 1 42 levels in cortex correlate with apolipoprotein E epsilon 4 allele dosage in sporadic Alzheimer's disease. Brain Res. 748: 250-252
54. Tamaoka A., Kondo T., Odaka A., Sahara N., Sawamura N., Ozawa K. et al. (1994) Biochemical evidence for the long-tail form (A beta 1 42/43) of amyloid beta protein as a seed molecule in cerebral deposits of Alzheimer's disease. Biochem. Biophys. Res. Commun. 205: 834-842
55. Tamaoka A., Sawamura N., Odaka A., Suzuki N., Mizusawa H., Shoji S. et al. (1995) Amyloid beta protein 1-42/43 (A beta 1-42/43) in cerebellar diffuse plaques: enzyme-linked immunosorbent assay and immunocytochemical study. Brain. Res. 679: 151-156
56. Gowing E., Roher A. E., Woods A. S., Cotter R. J., Chaney M., Little S. P. et al. (1994) Chemical characterization of A beta 17 42 peptide, a component of diffuse amyloid deposits of Alzheimer disease. J. Biol. Chem. 269: 10987-10990
57. Bales K. R., Verina T., Dodel R. C., Du Y., Altstiel L., Bender M. et al. (1997) Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition. Nature Genet. 17: 263-264
58. Strittmatter W. J., Weisgraber K. H., Goedert M., Saunders A. M., Huang D., Corder E. H. et al. (1994) Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer's disease brain are related to apolipoprotein E genotype. Exp. Neurol. 125: 163-171
59. Jensen M., Basun H. and Lannfelt L. (1995) Increased cerebrospinal fluid tau in patients with Alzheimer's disease. Neurosci. Lett. 186: 189-191
60. Blomberg M., Jensen M., Basun H., Lannfelt L. and Wahlund L.-O. (1996) Increasing cerebrospinal fluid tau levels in a subgroup of Alzheimer patients with apolipoprotein E allele ε4 during 14 months follow-up. Neurosci. Lett. 214: 163-166
61. Lannfelt L., Jensen M., Amberla K., Viitanen M., Wahlund L.-O., Basun H. et al. (1997) Strong correlation between CSF tau and Alzheimer's symptoms in carriers of PS-1 and APP670-671 mutations with ε4+ of apolipoprotein E. Soc. Neurosci. Abstract 863.7
62. Braak H. and Braak E. (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. (Berl.) 82: 239-259
63. Braak H. and Braak E. (1997) Frequency of stages of Alzheimer-related lesions in different age categories. Neurobiol. Aging 18: 351-357
64. Ohm T. G., Kirca M., Bohl J., Scharnagl H., Grob W. and März W. (1995) Apolipoprotein E polymorphism influences not only cerebral senile plaque load but also Alzheimer's type neurofibrillary tangle formation. Neuroscience 66: 583-587
65. Marz W., Scharnagl H., Kirca M., Bohl J., Gross W. and Ohm T. G. (1996) Apolipoprotein E polymorphism is associated with both senile plaque load and Alzheimer-type neurofibrillary tangle formation. Ann. NY Acad. Sci. 777: 276-280