Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: A case-control study

Journal of the Neurological Sciences

Volumn 240, Issue 1-2, 2006, Pages 71-75

  Quan, Wenxiang ^a   Yasuda, Minoru ^a,b   Hashimoto, Mamoru ^b   Yamamoto, Yasuji ^a   Ishii, Kazunari ^b   Kazui, Hiroaki ^b   Mori, Etsuro ^b   Kakigi, Tatsuya ^a   Maeda, Kiyoshi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Hyogo Brain and Heart Center   (Japan)

Author keywords

Alzheimer's disease; Case control study; Polymorphism; presenilin 2; Regulatory region

Indexed keywords

APOLIPOPROTEIN E; PRESENILIN 2;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CHI SQUARE TEST; COMMUNITY; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; GENOTYPE; HUMAN; JAPAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; PATIENT; POPULATION RESEARCH; PRIORITY JOURNAL; RACE DIFFERENCE; RUSSIAN FEDERATION;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CONFIDENCE INTERVALS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; PRESENILIN-2; REGULATORY SEQUENCES, NUCLEIC ACID; RETROSPECTIVE STUDIES;

EID: 29144496956     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2005.09.004     Document Type: Article

References (30)

1. E.B. Larson, W.A. Kukull, and R.L. Katzman Cognitive impairment: dementia and Alzheimer's disease Annu Rev Public Health 13 1992 431 449
2. E.H. Corder, A.M. Saunders, W.J. Strittmatter, D.E. Schmechel, P.C. Gaskell, and G.W. Small Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families Science 261 1993 921 923
3. A.M. Saunders, W.J. Strittmatter, D. Schmechel, P.H. George-Hyslop, M.A. Pericak-Vance, and S.H. Joo Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease Neurology 43 1993 1467 1472
4. C.M. van Duijn, P. de Knijff, M. Cruts, A. Wehnert, L.M. Havekes, and A. Hofman Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease Nat Genet 7 1994 74 78
5. K. Duff, C. Eckman, C. Zehr, X. Yu, C.M. Prada, and J. Perez-tur Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1 Nature 383 1996 710 713
6. D. Scheuner, C. Eckman, M. Jensen, X. Song, M. Citron, and N. Suzuki Secreted amyloid beta-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 Nat Med 2 1996 864 870
7. E.M. Blalock, J.W. Geddes, K.C. Chen, N.M. Porter, W.R. Markesbery, and P.W. Landfield Incipient Alzheimer's disease: microarray correlation analyses reveal major transcriptional and tumor suppressor responses Proc Natl Acad Sci U S A 101 2004 2173 2178
8. D.K. Lahiri, C. Ghosh, and Y.W. Ge A proximal gene promoter region for the beta-amyloid precursor protein provides a link between development, apoptosis, and Alzheimer's disease Ann NY Acad Sci 1010 2003 643 647
9. E.S. Athan, J.H. Lee, A. Arriaga, R.P. Mayeux, and B. Tycko Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease Arch Neurol 59 2002 1793 1799
10. M. Yasuda, N. Hirono, K. Maeda, T. Imamura, E. Mori, and C. Tanaka A case-control study of presenilin-1 intronic polymorphism in sporadic early- and late-onset Alzheimer's disease J Neurol Neurosurg Psychiatry 66 1999 722 726
11. C.M. van Duijn, M. Cruts, J. Theuns, G. Van Gassen, H. Backhovens, and M. van den Broeck Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample Eur J Hum Genet 7 1999 801 806
12. J. Theuns, J. Remacle, R. Killick, E. Corsmit, K. Vennekens, and D. Huylebroeck Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression Hum Mol Genet 12 2003 869 877
13. S.M. Laws, E. Hone, K. Taddei, C. Harper, B. Dean, and C. McClean Variation at the APOE-491 promoter locus is associated with altered brain levels of apolipoprotein E Mol Psychiatry 7 2002 886 890
14. M.J. Artiga, M.J. Bullido, A. Frank, I. Sastre, M. Recuero, and M.A. Garcia Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene Hum Mol Genet 7 1998 1887 1892
15. J.C. Lambert, C. Berr, F. Pasquier, A. Delacourte, B. Frigard, and D. Cottel Pronounced impact of Th1/E47cs mutation compared with-491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease Hum Mol Genet 7 1998 1511 1516
16. J.C. Lambert, L. Araria-Goumidi, L. Myllykangas, C. Ellis, J.C. Wang, and M.J. Bullido Contribution of APOE promoter polymorphisms to Alzheimer's disease risk Neurology 59 2002 59 66
17. L. Zurutuza, P. Verpillat, G. Raux, D. Hannequin, M. Puel, and S. Belliard APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population Eur J Hum Genet 8 2000 713 716
18. S. Helisalmi, M. Hiltunen, P. Valonen, A. Mannermaa, A.M. Koivisto, and M. Lehtovirta Promoter polymorphism (- 491A/T) in the APOE gene of Finnish Alzheimer's disease patients and control individuals J Neurol 246 1999 821 824
19. N. Riazanskaia, W.J. Lukiw, A. Grigorenko, G. Korovaitseva, G. Dvoryanchikov, and Y. Moliaka Regulatory region variability in the human presenilin-2 (PSEN) gene: potential contribution to the gene activity and risk for AD Mol Psychiatry 7 2002 891 898
20. M. Di Natale, M. Perri, T. Kawarai, R. Maletta, C. Tomaino, and C. Sato Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population Neurosci Lett 343 2003 210 212
21. K. Ishii, H. Kitagaki, M. Kono, and E. Mori Decreased medial temporal oxygen metabolism in Alzheimer's disease shown by PET J Nucl Med 37 1996 1159 1165
22. M. Yasuda, K. Maeda, K. Shimada, T. Kakigi, E. Mori, and M. Nakai Apolipoprotein E ε4 allele and gender difference in risk of Alzheimer's disease Alzheimer's Res 1 1995 77 81
23. M.F. Folstein, S.E. Folstein, and P.R. McHugh Mini-Mental State: a practical method for grading the cognitive state for the clinician J Psychiatr Res 12 1975 189 198
24. G. McKhann, D. Drachman, M. Folstein, R. Katzman, D. Price, and E.M. Stadlan 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 34 1984 939 944
25. P.R. Wenham, W.H. Price, and G. Blandell Apolipoprotein E genotyping by one-stage PCR Lancet 337 1991 1158 1159
26. G.D. Schellenberg Alzheimer disease genes: presenilin 2 mutation number 9 and still counting Arch Neurol 60 2003 1521 1522
27. R. Sherrington, S. Froelich, S. Sorbi, D. Campion, H. Chi, and E.A. Rogaeva Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant Hum Mol Genet 5 1996 985 988
28. M. Cruts, C.M. van Duijn, H. Backhovens, M. Van den Broeck, A. Wehnert, and S. Serneels Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease Hum Mol Genet 7 1998 43 51
29. M. Hutton, and J. Hardy The presenilins and Alzheimer's disease Hum Mol Genet 6 1997 1639 1646
30. E.M. Wijsman, E.W. Daw, X. Yu, E.J. Steinbart, D. Nochlin, and T.D. Bird APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation Am J Med Genet B Neuropsychiatr Genet 132B 2004 14 20