Presenilin-1 gene intronic polymorphism and late-onset Alzheimer's disease

Journal of Geriatric Psychiatry and Neurology

Volumn 21, Issue 4, 2008, Pages 268-273

  Dursun, Erdinç ^a   Gezen Ak, Duygu ^a   Eker, Engin ^a   Ertan, Turan ^a   Engin, Funda ^a   Hanaǧasi, Haşmet ^b   Gürvit, Hakan ^b   Emre, Murat ^b   Yilmazer, Selma ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Alzheimer's disease; Polymorphism; Presenilin 1

Indexed keywords

PRESENILIN 1;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENETIC ANALYSIS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 55949095880     PISSN: 08919887     EISSN: 15525708     Source Type: Journal    
DOI: 10.1177/0891988708324941     Document Type: Article

References (36)

1. Citron M., Westaway D., Xia W., et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nature Med. 1997 ; 3: 67-72.
2. De Strooper B., Saftig P., Craessaerts K., et al. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature. 1998 ; 391: 387-390.
3. Hardy J. Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci. 1997 ; 20: 154-159.
4. Rubinsztein DC The genetics of Alzheimer's disease. Prog Neurobiol. 1997 ; 52: 447-454.
5. Xia W. Role of presenilin in g-secretase cleavage of amyloid precursor protein. Exp Gerontol. 2000 ; 35: 453-460.
6. Kehoe P., Williams J., Lovestone S., Wilcock G., Owen MJ The UK Alzheimer's disease collaborative group. Presenilin-1 polymorphism and Alzheimer's disease. Lancet. 1996 ; 347: 1185.
7. Tysoe C., Whittaker J., Cairns NJ, et al. Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. Neurosci Lett. 1997 ; 222: 68-69.
8. Jesús A., Bullido MJ, Frank A., Valdivieso F. Presenilin-1 genotype (2/2) is associated with late-onset Alzheimer's disease in Spanish patients. Alzheimer's Res. 1997 ; 3: 141-144.
9. Singleton AB, Lamb H., Leak A., McKeith IG, Perry RH, Morris CM No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer's disease. Neurosci Lett. 1997 ; 234: 19-22.
10. De Strooper B. Aph-1,Pen-2, and Nicastrin with Presenilin generate an active γ-secretase complex. Neuron. 2003 ; 38: 9-12.
11. Wragg M., Hutton M., Talbot C. The Alzheimer's disease collaborative group. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet. 1996 ; 347: 509-512.
12. Higuchi S., Muramatsu S., Arai H., Sasaki H. Presenilin-1 polymorphism and Alzheimer's disease. Lancet. 1996 ; 347: 1185-1186.
13. Isoe K., Urakami K., Ji Y., Adachi Y., Nakashima K. Presenilin-1 polymorphism in patient with Alzheimer's disease, vascular dementia and alcohol-associated dementia in Japanese population. Acta Neurol Scand. 1996 ; 94: 326-328.
14. Matsushita S., Arai H., Muramatsu T., et al. Presenilin-1 polymorphism in Alzheimer's disease and vascular dementia. Exp Neurol. 1997 ; 146: 567-569.
15. Tilley L., Morgan K., Grainger J., et al. Evaluation of polymorphism in the Presenilin-1 gene and the butyrycholinesterase gene as risk factors in sporadic Alzheimer's disease. Eur J Hum Genet. 1999 ; 7: 659-663.
16. Bagli M., Papassotiropoulos A., Schwab SG, et al. No association between the intronic polymorphism in the presenilin-1 gene and Alzheimer's disease in German population. J Neurol Sci. 1999 ; 167: 34-36.
17. Hu CJ, Sung SM, Liu HC, Chang JG Association of Apolipoprotein E genotype and intronic polymorphism of the presenilin-1 gene with Alzheimer's disease in elderly Taiwan Chinese. J Neurol Sci. 2000 ; 181: 127-131.
18. Korovaitseva GI, Bukina A., Farrer LA, Rogaev EI Presenilin-1 polymorphism in Alzheimer's disease. Lancet. 1997 ; 350: 336-337.
19. Kowalska A., Wender M., Lannfelt L. Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer's disease in Polish patients. Dement Geriatr Cogn Disord. 1998 ; 9: 137-139.
20. Lendon CL, Myers A., Cumming A., Goate AM, St Claire D. A polymorphism in the presenilin 1 gene does not modify risk for Alzheimer's disease in a cohort with sporadic early onset. Neurosci Lett. 1997 ; 228: 212-214.
21. Liao A., Gomez-Isla T., Clatworthy A., Hyman BT Lack of association of presenilin-1intron-8 polymorphism with neuropathological features of Alzheimer's disease. Brain Res. 1999 ; 816: 295-298.
22. Perez-Tur J., Wavrant-De VF, Lambert JC, Chartier-Harlin MC Presenilin-1 polymorphism and Alzheimer's disease. Lancet. 1996 ; 347: 1560-1561.
23. Scott WK, Roses AD, Haines JL, Pericak-Vance MA Presenilin-1 polymorphism and Alzheimer's disease. Lancet. 1996 ; 347: 1560-1561.
24. Scott WK, Yamaoka LH, Locke PA, et al. No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer's disease. Genet Epidemiol. 1997 ; 14: 307-315.
25. Sodeyama N., Itoh Y., Suematsu N., et al. Presenilin 1 intronic polymorphism is not associated with Alzheimer's type neuropathological changes or sporadic Alzheimer's disease. J Neurol Neurosurg Psychiatry. 1998 ; 64: 451-548.
26. Sorbi S., Nacmias B., Tedde A., et al. Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease. Neurosci Lett. 1997 ; 222: 132-134.
27. Wang X., DeKosky ST, Wisniewski S., Kamboh MI Genetic association of two chromosome 14 genes (presenilin 1 and alpha 1-antichymotrypsin) with Alzheimer's disease. Ann Neurol. 1998 ; 44: 387-390.
28. Wu X., Jiang S., Lin S., et al. No association between the intronic presenilin 1 polymorphism and Alzheimer's disease in the Chinese population. Am J Med Genet. 1999 ; 88: 1-3.
29. Yasuda M., Hirono N., Maeda K., Imamura T., Mori E., Tanaka C. Case-control study of presenilin 1 intronic polymorphism in sporadic early and late onset Alzheimer's disease. J Neurol Neurosurg Psychiatry. 1999 ; 66: 722-726.
30. Bertram L., McQueen MB, Mullin K., Blacker D., Tanzi RE Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007 ; 39: 17-23.
31. Jia L., Zhou C., Lv H., et al. Association between presenilin 1 intronic polymorphism and late onset Alzheimer's disease in the North Chinese population. Brain Res. 2006 ; 1116: 201-205.
32. Nishiwaki Y., Kamino K., Yoshiiwa A., et al. T/G polymorphism at intron 9 of presenilin 1 gene is associated with, but not responsible for sporadic late-onset Alzheimer's disease in Japanese population. Neurosci Lett. 1997 ; 227: 123-126.
33. Gezen-Ak D., Dursun E., Ertan T., et al. Association between vitamin D receptor gene polymorphism and Alzheimer's disease. Tohoku J Exp Med. 2007 ; 212: 275-282.
34. Yamaguchi M. Impact of aging on calcium channels and pumps. In: Mattson MP, ed. Advances in Cell Aging and Gerontology. Calcium Homeostasis and Signaling in Aging. Elsevier B.V. Baltimore 2002: 47-65.
35. Gezen Ak D., Kahraman H., Dursun E., et al. Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. Dis Mark. 2005 ; 21: 191-197.
36. Mattson MP, Chan SL Neuronal and glial calcium signaling in Alzheimer's disease. Cell Calcium. 2003 ; 34: 385-397.