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Volumn 65 A, Issue 3, 2010, Pages 219-224

The Cathepsin D (224C/T) polymorphism confers an increased risk to develop alzheimer's disease in men

Author keywords

Cathepsin; Dementia; Gender; Genetics; Risk factor

Indexed keywords

CATHEPSIN D; DNA;

EID: 77949533379     PISSN: 10795006     EISSN: 1758535X     Source Type: Journal    
DOI: 10.1093/gerona/glp209     Document Type: Article
Times cited : (10)

References (40)
  • 1
    • 0242300624 scopus 로고    scopus 로고
    • Games played by rogue proteins in prion disorders and Alzheimer's disease
    • Aguzzi A, Haass C. Games played by rogue proteins in prion disorders and Alzheimer's disease. Science. 2003;302:814-818.
    • (2003) Science , vol.302 , pp. 814-818
    • Aguzzi, A.1    Haass, C.2
  • 3
    • 0022927903 scopus 로고
    • Immunolocalization of cathepsin D in normal and neoplastic human tissues
    • Reid WA, Valler MJ, Kay J. Immunolocalization of cathepsin D in normal and neoplastic human tissues. J Clin Pathol. 1986;39:1323-1330.
    • (1986) J Clin Pathol , vol.39 , pp. 1323-1330
    • Reid, W.A.1    Valler, M.J.2    Kay, J.3
  • 4
    • 0001891521 scopus 로고    scopus 로고
    • Chemistry of lysosomal proteases
    • Glaumann H and Ballard FJ (eds) London UK: Academic Press
    • Kirschke H, Barrett AJ. Chemistry of lysosomal proteases. In: Glaumann H and Ballard FJ (eds). Lysosomes: Their Role in Protein Breakdown. London, UK: Academic Press; 1997:193-238.
    • (1997) Lysosomes: Their Role in Protein Breakdown , pp. 193-238
    • Kirschke, H.1    Barrett, A.J.2
  • 5
    • 0025355591 scopus 로고
    • Lysosomal proteinase antigens are prominently localized within senile plaques of Alzheimer's disease: Evidence for a neuronal origin
    • 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.
    • (1990) Brain Res , vol.513 , pp. 181-192
    • Cataldo, A.M.1    Thayer, C.Y.2    Bird, E.D.3    Wheelock, T.R.4    Nixon, R.A.5
  • 6
    • 0025775712 scopus 로고
    • Abnormal distribution of cathepsins in the brain of patients with Alzheimer's disease
    • Nakamura Y, Takeda M, Suzuki H et al. Abnormal distribution of cathepsins in the brain of patients with Alzheimer's disease. Neurosci Lett. 1991;130:195-198.
    • (1991) Neurosci Lett , vol.130 , pp. 195-198
    • Nakamura, Y.1    Takeda, M.2    Suzuki, H.3
  • 7
    • 0344505216 scopus 로고    scopus 로고
    • Beta-amyloid increases cathepsin D levels in hippocampus
    • Hoffman KB, Bi X, Pham JT, Lynch G. Beta-amyloid increases cathepsin D levels in hippocampus. Neurosci Lett. 1998;250:75-78.
    • (1998) Neurosci Lett , vol.250 , pp. 75-78
    • Hoffman, K.B.1    Bi, X.2    Pham, J.T.3    Lynch, G.4
  • 8
    • 0028947294 scopus 로고
    • Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system
    • Cataldo AM, Barnett JL, Berman SA, et al. Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: evidence for early up-regulation of the endosomal-lysosomal system. Neuron. 1995;14:671-680.
    • (1995) Neuron , vol.14 , pp. 671-680
    • Cataldo, A.M.1    Barnett, J.L.2    Berman, S.A.3
  • 9
    • 0033548409 scopus 로고    scopus 로고
    • Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease
    • Papassotiropoulos A, Bagli M, Feder O, et al. Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease. Neurosci Lett. 1999;262:171-174.
    • (1999) Neurosci Lett , vol.262 , pp. 171-174
    • Papassotiropoulos, A.1    Bagli, M.2    Feder, O.3
  • 11
    • 0023840142 scopus 로고
    • Cloning and sequencing of the 52K cathepsin D complementary deoxyribonucleic acid of MCF7 breast cancer cells and mapping on chromosome 11
    • Augereau P, Garcia M, Mattei MG, et al. Cloning and sequencing of the 52K cathepsin D complementary deoxyribonucleic acid of MCF7 breast cancer cells and mapping on chromosome 11. Mol Endocrinol. 1988;2:186-192.
    • (1988) Mol Endocrinol , vol.2 , pp. 186-192
    • Augereau, P.1    Garcia, M.2    Mattei, M.G.3
  • 12
    • 0028335582 scopus 로고
    • 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
    • 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.
    • (1994) Eur J Cancer , vol.30 A , pp. 390-394
    • Touitou, I.1    Capony, F.2    Brouillet, J.P.3    Rochefort, H.4
  • 13
    • 0037119172 scopus 로고    scopus 로고
    • Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease
    • Bagnoli S, Nacmias B, Tedde A, et al. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. Neurosci Lett. 2002;328:273-276.
    • (2002) Neurosci Lett , vol.328 , pp. 273-276
    • Bagnoli, S.1    Nacmias, B.2    Tedde, A.3
  • 14
    • 0034617348 scopus 로고    scopus 로고
    • Genetic polymorphisms in the cathespin D and interleukin-6 genes and the risk of Alzheimer's disease
    • DOI 10.1016/S0304-3940(00)01185-X, PII S030439400001185X
    • 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. (Pubitemid 30408429)
    • (2000) Neuroscience Letters , vol.288 , Issue.1 , pp. 21-24
    • Bhojak, T.J.1    Dekosky, S.T.2    Ganguli, M.3    Kamboh, M.I.4
  • 15
    • 0033654196 scopus 로고    scopus 로고
    • Candidate genes showing no evidence for association or linkage with Alzheimer's disease using family-based methodologies
    • Bertram L, Blacker D, Crystal A, et al. Candidate genes showing no evidence for association or linkage with Alzheimer's disease using family-based methodologies. Exp Gerontol. 2000;35:1353-1361.
    • (2000) Exp Gerontol , vol.35 , pp. 1353-1361
    • Bertram, L.1    Blacker, D.2    Crystal, A.3
  • 16
    • 0035109419 scopus 로고    scopus 로고
    • No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease
    • Bertram L, Guenette S, Jones J, et al. No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. Ann Neurol. 2001;49:114-116.
    • (2001) Ann Neurol , vol.49 , pp. 114-116
    • Bertram, L.1    Guenette, S.2    Jones, J.3
  • 17
    • 32244433434 scopus 로고    scopus 로고
    • Age at onset. An essential variable for the definition of genetic risk factors for sporadic Alzheimer's disease
    • Beyer K, Lao JI, Latorre P, Ariza A. Age at onset. An essential variable for the definition of genetic risk factors for sporadic Alzheimer's disease. Ann N YAcad Sci. 2005;1057:260-278.
    • (2005) Ann N YAcad Sci , vol.1057 , pp. 260-278
    • Beyer, K.1    Lao, J.I.2    Latorre, P.3    Ariza, A.4
  • 18
    • 33644532549 scopus 로고    scopus 로고
    • Towards compendia of negative genetic association studies: An example for Alzheimer disease
    • Blomqvist ME, Reynolds C, Katzov H, et al. Towards compendia of negative genetic association studies: an example for Alzheimer disease. Hum Genet. 2006;119:29-37.
    • (2006) Hum Genet , vol.119 , pp. 29-37
    • Blomqvist, M.E.1    Reynolds, C.2    Katzov, H.3
  • 19
    • 24144488316 scopus 로고    scopus 로고
    • The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations
    • Capurso C, Solfrizzi V, D'Introno A, et al. The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations. J Gerontol A Biol Sci Med Sci. 2005;60:991-996.
    • (2005) J Gerontol A Biol Sci Med Sci , vol.60 , pp. 991-996
    • Capurso, C.1    Solfrizzi, V.2    D'Introno, A.3
  • 20
    • 0034726017 scopus 로고    scopus 로고
    • The genetic association between cathepsin D and Alzheimer's disease
    • Crawford FC, Freeman MJ, Schinka J, et al. The genetic association between cathepsin D and Alzheimer's disease. Neurosci Lett. 2000;289:61-65.
    • (2000) Neurosci Lett , vol.289 , pp. 61-65
    • Crawford, F.C.1    Freeman, M.J.2    Schinka, J.3
  • 21
    • 0035399728 scopus 로고    scopus 로고
    • SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
    • Emahazion T, Feuk L, Jobs M, et al. SNP association studies in Alzheimer's disease highlight problems for complex disease analysis. Trends Genet. 2001;17:407-413.
    • (2001) Trends Genet , vol.17 , pp. 407-413
    • Emahazion, T.1    Feuk, L.2    Jobs, M.3
  • 22
    • 0038454936 scopus 로고    scopus 로고
    • Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease
    • Ingegni T, Nocentini G, Mariani E, et al. Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease. Dement Geriatr Cogn Disord. 2003;16:151-155.
    • (2003) Dement Geriatr Cogn Disord , vol.16 , pp. 151-155
    • Ingegni, T.1    Nocentini, G.2    Mariani, E.3
  • 23
    • 2942668367 scopus 로고    scopus 로고
    • Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease
    • Kolsch H, Ptok U, Majores M, et al. Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease. Psychiatr Genet. 2004;14:97-100.
    • (2004) Psychiatr Genet , vol.14 , pp. 97-100
    • Kolsch, H.1    Ptok, U.2    Majores, M.3
  • 24
    • 0036482911 scopus 로고    scopus 로고
    • Screening for new polymorphisms using single-strand conformation polymorphism analysis
    • Majores M, Kolsch H, Bagli M, et al. Screening for new polymorphisms using single-strand conformation polymorphism analysis. Int J Mol Med. 2002;9:185-187.
    • (2002) Int J Mol Med , vol.9 , pp. 185-187
    • Majores, M.1    Kolsch, H.2    Bagli, M.3
  • 25
    • 43449088145 scopus 로고    scopus 로고
    • Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample
    • Mateo I, Sanchez-Guerra M, Combarros O, et al. Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample. Am J Med Genet. 2002;114:31-33.
    • (2002) Am J Med Genet , vol.114 , pp. 31-33
    • Mateo, I.1    Sanchez-Guerra, M.2    Combarros, O.3
  • 27
    • 0035825982 scopus 로고    scopus 로고
    • Non-replication of association between cathepsin D genotype and late onset Alzheimer disease
    • Menzer G, Muller-Thomsen T, Meins W, et al. Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. Am J Med Genet. 2001;105:179-182.
    • (2001) Am J Med Genet , vol.105 , pp. 179-182
    • Menzer, G.1    Muller-Thomsen, T.2    Meins, W.3
  • 28
    • 0034971263 scopus 로고    scopus 로고
    • Lack of replication of association findings in complex disease: An analysis of 15polymorphisms in prior candidate genes for sporadic Alzheimer's disease
    • Prince JA, Feuk L, Sawyer SL, et al. Lack of replication of association findings in complex disease: an analysis of 15polymorphisms in prior candidate genes for sporadic Alzheimer's disease. Eur J Hum Genet. 2001;9:437-444.
    • (2001) Eur J Hum Genet , vol.9 , pp. 437-444
    • Prince, J.A.1    Feuk, L.2    Sawyer, S.L.3
  • 29
    • 0038018658 scopus 로고    scopus 로고
    • Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease
    • Styczynska M, Religa D, Pfeffer A, et al. Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease. Neurosci Lett. 2003;344:99-102.
    • (2003) Neurosci Lett , vol.344 , pp. 99-102
    • Styczynska, M.1    Religa, D.2    Pfeffer, A.3
  • 30
    • 23644435479 scopus 로고    scopus 로고
    • Lack of association of cathepsin D genetic polymorphism with Alzheimer's disease in Koreans
    • Jhoo JH, Park WY, Kim KW, et al. Lack of association of cathepsin D genetic polymorphism with Alzheimer's disease in Koreans. Arch Gerontol Geriatr. 2005;41:121-127.
    • (2005) Arch Gerontol Geriatr , vol.41 , pp. 121-127
    • Jhoo, J.H.1    Park, W.Y.2    Kim, K.W.3
  • 31
    • 4344646196 scopus 로고    scopus 로고
    • Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population
    • DOI 10.1159/000079189
    • Li XQ, Chen D, Zhang ZX, Qu QM, Zhang JW. Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. Dement Geriatr Cogn Disord. 2004;18:115-119. (Pubitemid 39140359)
    • (2004) Dementia and Geriatric Cognitive Disorders , vol.18 , Issue.2 , pp. 115-119
    • Li, X.-Q.1    Chen, D.2    Zhang, Z.-X.3    Qu, Q.-M.4    Zhang, J.-W.5
  • 32
    • 0035074707 scopus 로고    scopus 로고
    • Cathepsin D polymorphism not associated with Alzheimer's disease in Japanese
    • Matsui T, Morikawa Y, Tojo M, et al. Cathepsin D polymorphism not associated with Alzheimer's disease in Japanese. Ann Neurol. 2001;49:544-545.
    • (2001) Ann Neurol , vol.49 , pp. 544-545
    • Matsui, T.1    Morikawa, Y.2    Tojo, M.3
  • 33
    • 33845892752 scopus 로고    scopus 로고
    • Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database
    • 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.
    • (2007) Nat Genet , vol.39 , pp. 17-23
    • Bertram, L.1    McQueen, M.B.2    Mullin, K.3    Blacker, D.4    Tanzi, R.E.5
  • 34
    • 0030823158 scopus 로고    scopus 로고
    • 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
    • Farrer LA, Cupples LA, Haines JL, et al. 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.
    • (1997) JAMA , vol.278 , pp. 1349-1356
    • Farrer, L.A.1    Cupples, L.A.2    Haines, J.L.3
  • 35
    • 0021271971 scopus 로고
    • 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
    • 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 Department of Health and Human Services Task Force on Alzheimer's disease. Neurology. 1984;34:939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3    Katzman, R.4    Price, D.5    Stadlan, E.M.6
  • 36
    • 0030870822 scopus 로고    scopus 로고
    • Improved method for genotyping apolipoprotein e polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes
    • Zivelin A, Rosenberg N, Peretz H, Amit Y, Kornbrot N, Seligsohn U. Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes. Clin Chem. 1997;43:1657-1659.
    • (1997) Clin Chem , vol.43 , pp. 1657-1659
    • Zivelin, A.1    Rosenberg, N.2    Peretz, H.3    Amit, Y.4    Kornbrot, N.5    Seligsohn, U.6
  • 38
    • 34548057801 scopus 로고    scopus 로고
    • Claims of sex differences: An empirical assessment in genetic associations
    • Patsopoulos NA, Tatsioni A, Ioannidis JP. Claims of sex differences: an empirical assessment in genetic associations. JAMA. 2007;298:880-893.
    • (2007) JAMA , vol.298 , pp. 880-893
    • Patsopoulos, N.A.1    Tatsioni, A.2    Ioannidis, J.P.3
  • 39
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009;41:1088-1093.
    • (2009) Nat Genet , vol.41 , pp. 1088-1093
    • Harold, D.1    Abraham, R.2    Hollingworth, P.3
  • 40
    • 33744993913 scopus 로고    scopus 로고
    • The cathepsin D rs17571 polymorphism: Effects on CSF tau concentrations in Alzheimer's disease
    • Riemenschneider M, Blennow K, Wagenpfeil S, et al. The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer's disease. Hum Mutat. 2006;27:532-537.
    • (2006) Hum Mutat , vol.27 , pp. 532-537
    • Riemenschneider, M.1    Blennow, K.2    Wagenpfeil, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.