Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population

Dementia and Geriatric Cognitive Disorders

Volumn 18, Issue 2, 2004, Pages 115-119

  Li, Xiao Qing ^a   Chen, Deng ^a   Zhang, Zhen Xin ^b   Qu, Qiu Ming ^c   Zhang, Jun Wu ^a  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c XI'AN MEDICAL UNIVERSITY   (China)

Author keywords

Alzheimer's disease; Cathepsin D; Polymorphism

Indexed keywords

AMYLOID PRECURSOR PROTEIN; CATHEPSIN D; TAU PROTEIN;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CATHEPSIN D GENE; CHINESE; CORRELATION ANALYSIS; DISEASE ASSOCIATION; ENDOSOME; ENZYME DEGRADATION; EXON; FEMALE; FRAGMENTATION REACTION; GENE; GENE OVEREXPRESSION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; INTERMETHOD COMPARISON; LYSOSOME; MAJOR CLINICAL STUDY; MALE; MOLECULAR INTERACTION; POPULATION RESEARCH; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE;

AGED; AGED, 80 AND OVER; ALLELES; ALZHEIMER DISEASE; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; RISK;

EID: 4344646196     PISSN: 14208008     EISSN: None     Source Type: Journal    
DOI: 10.1159/000079189     Document Type: Article

References (32)

1. Gatz M, Pedersen NL, Berg S, Johansson B, Johansson K, Mortimer JA, Posner SF, Viitanen M, Winblad B, Ahlbom A: Heritability for Alzheimer's disease: The study of dementia in Swedish twins. J Gerontol A Biol Sci Med Sci 1997;52:M117-M125.
2. Kosik KS, Joachim CL, Selkoe DJ: Microtubule-associated protein tau (tau) is a major antigenic component of paired helical filaments in Alzheimer disease. Proc Natl Acad Sci USA 1986;83:4044-4048.
3. McDermott JR, Gibson AM: Degradation of Alzheimer's beta-amyloid protein by human cathepsin D. Neuroreport 1996;7:2163-2166.
4. Sadik G, Kaji H, Takeda K, Yamagata F, Kameoka Y, Hashimoto K, Miyanaga K, Shinoda T: In vitro processing of amyloid precursor protein by cathepsin D. Int J Biochem Cell Biol 1999;31:1327-1337.
5. Wischik CM, Novak M, Thogersen HC, Edwards PC, Runswick MJ, Jakes R, Walker JE, Milstein C, Roth M, Klug A: Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease. Proc Natl Acad Sci USA 1988;85:4506-4510.
6. Cataldo AM, Hamilton DJ, Barnett JL, Pakevich PA, Nixon RA: Properties of the endosomal-lysosomal system in the human central nervous system: Disturbances mark most neurons in populations at risk to degenerate in Alzheimer's disease. J Neurosci 1996;16:186-199.
7. Cataldo AM, Thayer CY, Bird ED, Wheelock TR, Nixon RA: Lysosomal proteinase antigens are prominently localized within senile plaques of Alzheimer's disease: Evidence for a neuronal origin. Brain Res 1990;513:181-192.
8. Cataldo AM, Nixon RA: Enzymatically active lysosomal proteases are associated with amyloid deposits in Alzheimer brain. Proc Natl Acad Sci USA 1990;87:3861-3865.
9. Cataldo AM, Barnett JL, Mann DM, Nixon RA: Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome. J Neuropathol Exp Neurol 1996;55:704-715.
10. Evin G, Cappai R, Li QX, Culvenor JG, Small DH, Beyreuther K, Masters CL: Candidate γ-secretases in the generation of the carboxyl terminus of the Alzheimer's disease βA4 amyloid: Possible involvement of cathepsin D. Biochemistry 1995;34:14185-14192.
11. Chevallier N, Vizzavona J, Marambaud P, Baur CP, Spillantini M, Fulcrand P, Martinez J, Goedert M, Vincent JP, Checler F: Cathepsin D displays in vitro β-secretase-like specificity. Brain Res 1997;750:11-19.
12. Torreilles F, Touchon J: Pathogenic theories and intrathecal analysis of the sporadic form of Alzheimer's disease. Prog Neurobiol 2002;66:191-203.
13. Kenessey A, Nacharaju P, Ko LW, Yen SH: Degradation of tau by lysosomal enzyme cathepsin D: Implication for Alzheimer neurofibrillary degeneration. J Neurochem 1997;69:2026-2038.
14. Bi X, Haque TS, Zhou J, Skillman AG, Lin B, Lee CE, Kuntz ID, Ellman JA, Lynch G: Novel cathepsin D inhibitors block the formation of hyperphosphorylated tau fragments in hippocampus. J Neurochem 2000;74:1469-1477.
15. Touitou I, Capony F, Brouillet JP, Rochefort H: Missense polymorphism(C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction-single strand conformational polymorphism analysis and possible consequences in cancer cells. Eur J Cancer 1994;30A: 390-394.
16. Payton A, Holland F, Diggle P, Rabbitt P, Horan M, Davidson Y, Gibbons L, Worthington J, Ollier WE, Pendleton N: Cathepsin D exon 2 polymorphism associated with general intelligence in a healthy older population. Mol Psychiatry 2003;8:14-18.
17. Papassotiropoulos A, Bagli M, Feder O, Jessen F, Maier W, Rao ML, Ludwig M, Schwab SG, Heun R: Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease. Neurosci Lett 1999;262:171-174.
18. Papassotiropoulos A, Bagli M, Kurz A, Kornhuber J, Forstl H, Maier W, Pauls J, Lautenschlager N, Heun R: A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease. Ann Neurol 2000;47:399-403.
19. Papassotiropoulos A, Lewis HD, Bagli M, Jessen F, Ptok U, Schulte A, Shearman MS, Heun R: Cerebrospinal fluid levels of β-amyloid (42) in patients with Alzheimer's disease are related to the exon 2 polymorphism of the cathepsin D gene. Neuroreport 2002;13:1291-1294.
20. Mcllroy SP, Dynan KB, McGleenon BM, Lawson JT, Passmore AP: Cathepsin D gene exon 2 polymorphism and sporadic Alzheimer's disease. Neurosci Lett 1999;273:140-141.
21. Bertram L, Blacker D, Crystal A, Mullin K, Keeney D, Jones J, Basu S, Yhu S, Guenette S, McInnis M, Go R, Tanzi R: Candidate genes showing no evidence for association or linkage with Alzheimer's disease using family-based methodologies. Exp Gerontol 2000;35:1353-1361.
22. Bhojak TJ, Dekosky ST, Ganguli M, Kamboh MI: Genetic polymorphisms in the cathepsin D and interleukin-6 genes and the risk of Alzheimer's disease. Neurosci Lett 2000;288:21-24.
23. Crawford FC, Freeman MJ, Schinka J, Abdullah LI, Richards D, Sevush S, Duara R, Mullan MJ: The genetic association between cathepsin D and Alzheimer's disease. Neurosci Lett 2000;289:61-65.
24. Matsui T, Morikawa Y, Tojo M, Okamura N, Maruyama M, Hirai H, Chiba H, Matsushita S, Higuchi S, Arai H, Sasaki H: Cathepsin D polymorphism not associated with AD in Japanese. Ann Neurol 2001;49:544-545.
25. Menzer G, Muller-Thomsen T, Meins W, Alberici A, Binetti G, Hock C, Nitsch RM, Stoppe G, Reiss J, Finckh U: Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. Am J Med Genet 2001;105:179-182.
26. Prince JA, Feuk L, Sawyer SL, Gottfries J, Ricksten A, Nagga K, Bogdanovic N, Blennow K, Brookes AJ: Lack of replication of association findings in complex disease: An analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. Eur J Hum Genet 2001;9:437-444.
27. Bagnoli S, Nacmias B, Tedde A, Guarnieri BM, Cellini E, Ciantelli M, Petruzzi C, Bartoli A, Ortenzi L, Serio A, Sorbi S: Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. Neurosci Lett 2002;328:273-276.
28. Mateo I, Sanchez-Guerra M, Combarros O, Llorca J, Infante J, Gonzalez-Garcia J, del Molino JP, Berciano J: Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample. Am J Med Genet 2002;114:31-33.
29. Ingegni T, Nocentini G, Mariani E, Spazzafumo L, Polidori MC, Cherubini A, Catani M, Cadini D, Senin U, Mecocci P: Cathepsin d polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease. Dement Geriatr Cogn Disord 2003;16:151-155.
30. 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 the Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-944.
31. Hixson JE, Vernier DT: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990;31:545-548.
32. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM: 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;278:1349-1356.