Genetic association of BACE1 gene polymorphism C786G with late-onset Alzheimer's disease in Chinese

Journal of Molecular Neuroscience

Volumn 25, Issue 2, 2005, Pages 127-131

  Kan, Rui ^a,b,c   Wang, Binbin ^a,c   Zhang, Chuanfang ^a,c   Jin, Feng ^a   Yang, Ze ^d   Ji, Shun ^a,c   Lu, Zeping ^e   Zheng, Chenguang ^e   Wang, Li ^a  

^a INSTITUTE OF GENETICS AND DEVELOPMENTAL BIOLOGY   (China)

^b INNER MONGOLIA UNIVERSITY   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^d BEIJING HOSPITAL   (China)

^e Guangxi Zhuangzu Zizhiqu Jiangbin Yiyuan   (China)

Author keywords

A ; APOE; BACE1; Chinese; LOAD; Peptides; Polymorphism

Indexed keywords

APOLIPOPROTEIN E4; BETA SECRETASE; APOLIPOPROTEIN E; ASPARTIC PROTEINASE; BACE1 PROTEIN, HUMAN; PROTEINASE; SECRETASE;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CHINESE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; RISK; STATISTICAL SIGNIFICANCE; ASIAN; CASE CONTROL STUDY; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; ONSET AGE; RISK FACTOR;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMYLOID PRECURSOR PROTEIN SECRETASES; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ENDOPEPTIDASES; CASE-CONTROL STUDIES; ENDOPEPTIDASES; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 22244492603     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1385/JMN:25:2:127     Document Type: Article

References (29)

1. American Psychiatric Association. (1994) Diagnostic and Staistical Manual of Mental Disorders, 4th ed., American Psychiatric Association, Washington, D. C.
2. Anello G., Gueant-Rodriguez R. M., Bosco P., Gueant J. L., Romano A., Namour B., et al. (2004) Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease. NeuroReport. 15, 859-861.
3. Bertram L. and Tanzi R. E. (2004) Alzheimer's disease: one disorder, too many genes? Hum. Mol. Genet. 13(Spec. No. 1), R135-141.
4. Blacker D., Bertram L., Saunders A. J., Moscarillo T. J., Albert M. S., Wiener H., et al. (2003) Results of a high-resolution genome screen of 437 Alzheimer's disease families. Hum. Mol. Genet. 12, 23-32.
5. Blacker D., Haines J. L., Rodes L., Terwedow H., Go R.C. P., Harrell L.E., et al. (1997) ApoE-4 and age of onset of Alzheimer's disease: the NIMH genetics initiative. Neurology 48, 139-147.
6. Cai H., Wang Y. McCarthy D., Wen H., Borchelt D. R., Price D.L., et al. (2001) BACE1 is the major beta-secretase for generation of Abeta peptides by neurons. Nat. Neurosci. 4, 233-234.
7. Clarimon J., Bertranpetit J., Calafell F., Boada M., Tarraga L., and Comas D. (2003) Association study between Alzheimer's disease and genes involved in Aβ biosynthesis, aggregation and degradation: suggestive results with BACE1. J. Neurol. 250, 956-961.
8. Cruts M., Dermaut R., Rademakers R., Rock G., Van den B. M., Munteanu G., et al. (2001) Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. Neurosci. Lett. 313, 105-107.
9. Gold G., Blouin J. L., Herrmann F. R., Michon A., Mulligan R., Sa_l G. D., et al. (2003) Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE ε4 carriers. Am. J. Med. Genet. 119B, 44-47.
10. Hu X. F., Zhang X. R., Xuan A., and Cao X. R. (2002) Association between A polipoprotein E gene polymorphism and the patients with persistent vegetative state in the Chinese. Acta Genet. Sinica 29, 757-760.
11. Hussain I., Powell D., Howlett D. R., Tew D. G., Meek T. D., Chapman C., et al. (1999) Identification of a novel aspartic protease (Asp 2) as beta-secretase. Mol. Cell. Neurosci. 14, 419-427.
12. Kirschling C. M., Kolsch H., Frahnert C., Rao M. L., Maier W., and Heun R. (2003) Polymorphism in the BACE gene influences the risk for Alzheimer's disease. NeuroReport 14, 1243-1246.
13. Kolsch H., Lutjohann D., Ludwig M., Schulte A., Ptok U., Jessen F., et al. (2002) Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease. Mol. Psychiatry 7, 899-902.
14. Lin X., Koelsch G., Wu S., Downs D., Dashti A., and Tang J. (2000) Human aspartic protease memapsin 2 cleaves the β-secretase site of β-amyloid precursor protein. Proc. Natl. Acad. Sci. U. S. A. 97, 1456-1460.
15. Liu H. C., Leu S.-J., Chang J.-G., Sung S.-M., Hsu W.-C., Lee L.-S., et al. (2003) The association of beta-site APP cleaving enzyme (BACE) polymorphism C786G with Alzheimer's disease. NeuroReport 961, 88-91.
16. Luo Y., Bolon B., Kahn S., Bennett B. D., Babu-Khan S., Denis P., et al. (2001) Mice deficient in BACE1, the Alzheimer's beta-secretase, have normal phenotype and abolished beta-amyloid generation. Nat. Neurosci. 4, 231-232.
17. McKhann G., Drachman D., Folstein M., Datzman R., Price D., and Stadlan E. M. (1984) 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, 939-944.
18. Murphy T., Yip A., Brayne C., Easton O., Evans J. G., Xuereb J., et al. (2001) The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer disease. NeuroReport 13, 631-634.
19. Myers A. J. and Goate A. M. (2001) The genetics of late-onset Alzheimer's disease. Curr. Opin. Neurol. 14, 433-440.
20. Nicolaou M., Song Y. Q., Sato C. A., Orlacchio A., Kawarai T., Medeiros H., et al. (2001) Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics 3, 203-206.
21. Nowotny P., Kwon J. M., Chakraverty S., Nowotny V., Morris J. C., and Goate A. M. (2001) Association studies using novel polymorphisms in BACE1 and BACE2. NeuroReport 13, 1799-1802.
22. Saunders A. M., Strittmatter W. J., Schmechel D., George-Hyslop P. H., Pericak-Vance M. A., Joo S. H., et al. (1993) Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43, 1467-1472.
23. Shi J., Zhang S., Tang M., Liu X., Li T., Wang Y., et al. (2004) The 1239G/C polymorphism in exon 5 of BACE1 gene maybe associated with sporadic Alzheimer's disease in Chinese Hans. Am. J. Med. Genet. 124B, 54-57.
24. Sinha S., Anderson J. P., Barbour R., Basi G. S., Caccavello R., Davis D., et al. (1999) Purification and cloning of amyloid precursor protein β-secretase from human brain. Nature 402, 537-540.
25. Vassar R., Bennett B. D., Babu-Khan S., Kahn S., Mendiaz E. A., Denis P., et al. (1999) β-Secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. Science 286, 735-741.
26. Wagner S. L. and Munoz B. (1999) Modulation of amyloid β protein precursor processing as a means of retarding progression of Alzheimer's disease. J. Clin. Invest. 104, 1329-1332.
27. Yan R., Bienkowski M. J., Shuck M. E., Miao H., Tory M. C., Pauley A. M., et al. (1999) Membrane-anchored aspartyl protease with Alzheimer's disease β-secretase activity. Nature 402, 533-537.
28. Yang L. B., Lindholm K., Yan R., Citron M., Xia W., Yang X. L., et al. (2003) Elevated β-secretase expression and enzymatic activity detected in sporadic Alzheimer disease. Nat. Med. 9, 3-4.
29. Zhang P., Yang Z., Zhang C., Lu Z., Shi X., Zheng W., et al. (2003) Association study between late-onset Alzheimer's disease and the transferrin gene polymorphisms in Chinese. Neurosci. Lett. 49, 209-211.