Presenilin 1 and α-1-antichymotrypsin polymorphisms in Down syndrome: No effect on the presence of dementia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 88, Issue 6, 1999, Pages 616-620

  Tyrrell, Janette ^a,d   Cosgrave, Mary ^b   McPherson, Janet ^c   Hawi, Ziarih ^a   Trulock, Vivienne ^a   Calvert, Johnston ^c   Lawlor, Brian ^a,b   Gill, Michael ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b ST PATRICK S HOSPITAL   (Ireland)

^c Muckamore Abbey Hospital   (Ireland)

^d ST JAMES S HOSPITAL   (Ireland)

Author keywords

1 antichymotrypsin; Alzheimer disease; Apolipoprotein E; Down syndrome; Presenilin 1

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; APOLIPOPROTEIN E; DNA; PRESENILIN 1;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DEMENTIA; DOWN SYNDROME; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; ALLELES; ALPHA 1-ANTICHYMOTRYPSIN; ALZHEIMER DISEASE; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; DEMENTIA; DOWN SYNDROME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MATCHED-PAIR ANALYSIS; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, GENETIC; PRESENILIN-1;

EID: 0033573216     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991215)88:6<616::AID-AJMG8>3.0.CO;2-I     Document Type: Article

References (40)

1. Collacott RA. 1997. Psychiatric problems in elderly people with learning disabilities. In: Russell D, editor. Seminars in the psychiatry of learning disabilities. London: Gaskell Press. p 136-147.
2. Cosgrave M, Tyrrell J, Dreja H, Hawi Z, Lawlor B, Gill M. 1996. Lower frequency of ApoE e4 allele in an older Down's syndrome population. Biol Psychiatry 40:811-813.
3. Dalton AJ, Crapper-McLachlan DR. 1986. Clinical expression of Alzheimer's disease in Down's syndrome. Psychiatr Clin North Am 4:659-670.
4. DeKosky S, Aston C. Kamboh M. 1996. Polygenic determinants of Alzheimer's disease: modulation of the risk by α1 antichymotrypsin. Ann N Y Acad Sci 802:27-34.
5. Evenhuis HM. 1990. The natural history of dementia in Down's syndrome. Arch Neurol 47:263-267.
6. Fenner ME, Hewitt KE, Torpy DH. 1987. Down's syndrome: intellectual and behavioural functioning during adulthood. J Ment Defie Res 31: 241-249.
7. Gill M, Daly G, Heron S, Hawi Z, Fitzgerald M. 1997. Confirmation of association between attention deficit/hyperactivity disorder and a dopamine transporter polymorphism. Mol Psychiatry 2:311-313.
8. Haines J, Pritchard M, Saunders A, et al. 1996. No association between α1 antichymotrypsin and Alzheimer's disease. Ann N Y Acad Sci 802:35-41.
9. Higuchi S, Muramatsu T, Matsushita S, Arai H, Sasaki H. 1996. Presenilin-1 polymorphism and Alzheimer's disease. Lancet 347:1186.
10. Hinds T, Kukull W, Van Belle G, Schellenberg G, Villacres E, Larson E. 1994. Relationship between α1 antichymotrypsin and Alzheimer's disease. Neurobiol Aging 15:21-27.
11. Kamboh M, Sanghera D, Ferrell R, De Kosky S. 1995. ApoE* 4-associated Alzheimer's disease risk is modified by α1 antichymotrypsin polymorphism. Nat Genet 10:486-488.
12. Karlinsky H. 1986. Alzheimer's disease in Down's syndrome. J Am Geriatr Soc 34:728-734.
13. Kehoe P, Williams J, Lovestone S et al. 1996. Presenilin-1 polymorphism and Alzheimer's disease. Lancet 347:1185.
14. Lai F, Williams RS. 1989. A prospective study of Alzheimer's disease in Down's syndrome. Arch Neurol 46:849-853.
15. Lamb B. 1997. Presenilins, amyloid-β and Alzheimer's disease. Nat Med 3:28-29.
16. Lawlor BA, Swanwick GR, Feighery C, Walsh JB, Coakley D. 1996. Acute phase reactants in Alzheimer disease. Biol Psychiatry 39:1051-1052.
17. Lieberman J, Scleissner L,Tachiki K, Kling A. 1995. Serum α1 antichymotrypsin level as a marker for Alzheimer type dementia. Neurobiol Aging 16:747-753.
18. Ma J, YeeA, Brewer H et al. 1994. Amyloid associated proteins alpha-1-antichymotrypsin and apolipoprotein E promote assembly of amyloid β protein into filaments.Nature 372:92-94.
19. Mann DMA. 1988. Alzheimer's disease and Down's syndrome. Histopathology 13:125-137.
20. Muller U, Bodeker RH, Gerundt I, Kurz A. 1996. Lack of association between α1 antichymotrypsin polymorphism, Alzheimer's disease and allele e4 of apolipoprotein E. Neurology 47:1575-1577.
21. Nacmias B, Tedde A, Latorraca S et al. 1996. Apolipoprotein E and α1 antichymotrypsin polymorphism in Alzheimer's disease. Ann Neurol 40:678-680.
22. Oliver C, Holland AJ. 1986. Down's syndrome and Alzheimer's disease: a review. Psychol Med 16:307-322.
23. Perez-Tur J, Wavrant-De Vrieze F, Lambert JC et al. 1996. Presenilin-1 polymorphism and Alzheimer's disease. Lancet 347:1560-1561.
24. Poirier J, Davignon J, Bouthillier D, Kogan S, Bertrand P, Gauthier S. 1993. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet 342:697-699.
25. Prasher VP, Krishnan VHR. 1993. Age of onset and duration of dementia in people with Down's syndrome. Int J Geriatr Psychiatry 8:915-922.
26. Royston M, Mann D, Pickering-Brown S et al. 1994. Apolipoprotein E e2 allele promotes longevity and protects patients with Down's syndrome from dementia. Neuroreport 5:2583-2585.
27. Rumble M, Retallack R, Hilbich C, et al. 1989. Amyloid A4 protein and its precursors in Down's syndrome and Alzheimer's disease. N Engl J Med 320:1446-1452.
28. Saunders A, Strittmatter W, Schmechel D et al. 1993. Association of apolipoprotein E allele e4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43:1467-1472.
29. Schacter F, Faure-Delanef L, Guenot F et al. 1994. Genetic associations with human longevity at the ApoE and ACE loci. Nat Genet 6:29-32.
30. Schupf N, Kapell D, Lee JH et al. 1996. Onset of dementia is associated with apolipoprotein E e3 in Down's syndrome. Ann Neurol 40:799-801.
31. Scott W, Growdon J, Roses A, Haines J, Pericak-Vance M. 1996. Presenilin-1 polymorphism and Alzheimer's disease. Lancet 347:1186-1187.
32. Strittmatter W, Sanders A, Schmechel D et al. 1993. Apolipoprotein E high affinity binding to BA amyloid and increased frequency of type 4 allele in familiar Alzheimer's. Proc Natl Acad Sci USA 90:1977-1981.
33. Talbot C, Lendon C, Craddock N, Shears S, Morris J, Goate A. 1994. Protection against Alzheimer's disease with ApoE e2. Lancet 343:1432-1433.
34. Talbot C, Houlden H, Craddock N et al. 1996. Polymorphism in AACT gene may lower age of onset of Alzheimer's disease. Neuroreport 7:534-536.
35. Thase ME, Liss L, Smeltzer D, Maloon J. 1982. Clinical evaluation of dementia in Down's syndrome. J Ment Defic Res 26:239-244.
36. Tyrrell J, Cosgrave M, McLaughlin M, Lawlor B. 1996. Dementia in an Irish population of Down's syndrome people. Irish Journal of Psychological Medicine 13:51-54.
37. Tyrrell J, Cosgrave M, Hawi Z et al. 1998. A protective effect of apolipoprotein E e2 allele on dementia in Down's syndrome. Biol Psychiatry 43:397-400.
38. Van Gool W, Evenhuis H, van Duijn C. 1995. A case-control study of apoliprotein E genotypes in Alzheimer's disease associated with Down's syndrome. Ann Neurol 38:225-230.
39. Winiewski K, Dalton A, Crapper McLachlan DR, Wen GY, Winiewski HM. 1985. Alzheimer's disease in Down's syndrome: clinicopathological studies. Neurology 35:957-961.
40. Wragg M, Hutton M, Talbot C et al. 1996. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet 347:509-512.