Variants of CYP46A1 may interact with age and APOE to influence CSF Aβ42 levels in Alzheimers's disease

Human Genetics

Volumn 114, Issue 6, 2004, Pages 581-587

  Johansson, Annica ^a   Katzov, Hagit ^b   Zetterberg, Henrik ^a   Feuk, Lars ^c   Johansson, Boo ^d   Bogdanovic, Nenad ^e   Andreasen, Niels ^e   Lenhard, Boris ^b   Brookes, Anthony J ^b   Pedersen, Nancy L ^b   Blennow, Kai ^a   Prince, Jonathan A ^b  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; APOLIPOPROTEIN E; CYTOCHROME P450; CYTOCHROME P450 46A1; TAU PROTEIN; UNCLASSIFIED DRUG; AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN (1 42); AMYLOID BETA-PROTEIN (1-42); CHOLESTEROL 24 HYDROXYLASE; CHOLESTEROL 24-HYDROXYLASE; PEPTIDE FRAGMENT; PRIMER DNA; STEROID MONOOXYGENASE;

ADULT; AGE; AGED; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CEREBROSPINAL FLUID LEVEL; CONTROLLED STUDY; EUROPE; FEMALE; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MATHEMATICAL COMPUTING; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN METABOLISM; QUANTITATIVE TRAIT; RISK ASSESSMENT; ANALYSIS OF VARIANCE; BINDING SITE; CEREBROSPINAL FLUID; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETICS; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE FACTORS; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; ANALYSIS OF VARIANCE; APOLIPOPROTEINS E; BASE SEQUENCE; BINDING SITES; CASE-CONTROL STUDIES; DNA PRIMERS; ENZYME-LINKED IMMUNOSORBENT ASSAY; EUROPE; GENOTYPE; HUMANS; MIDDLE AGED; PEPTIDE FRAGMENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; STEROID HYDROXYLASES; TAU PROTEINS; VARIATION (GENETICS);

EID: 2942740962     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1107-9     Document Type: Article

References (37)

1. Alafuzoff I, Iqbal K, Fridén H, Adolfsson R, Winblad B (1987) Histopathological criteria for progressive dementia disorders: clinical-pathological correlation and classification by multivariate data analysis. Acta Neuropathol 74:209-225
2. Andreasen N, Blennow K (2002) Beta-amyloid (Abeta) protein in cerebrospinal fluid as a biomarker for Alzheimer's disease. Peptides 23:1205-1214
3. Andreasen N, Hesse C, Davidsson P, Wallin A, Minthon L, Winblad B, Vanderstichele H, Vanmechelen E, Blennow K (1999) Cerebrospinal fluid β-amyloid(1-42) in Alzheimer's disease: differences between early- and late-onset Alzheimer disease and stability during the course of disease. Arch Neurol 56: 673-680
4. Andreasen N, Minthon L, Davidsson P, Vanmechelen E, Vanderstichele H, Winblad B, Blennow K (2001) Evaluation of CSF-tau and CSF-Abeta42 as diagnostic markers for Alzheimer disease in clinical practice. Arch Neurol 58:373-379
5. 2 techniques in vivo and in vitro. J Biol Chem 272:30178-30184
6. Borroni B, Archetti S, Agosti C, Akkawi N, Brambilla C, Caimi L, Caltagirone C, Di Luca M, Padovan A (2003) Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer disease: from risk factors to disease modulators. Neurobiol Aging (in press)
7. Desai P, DeKosky ST, Kamboh MI (2002) Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease. Neurosci Lett 328:9-12
8. Ehehalt R, Keller P, Haass C, Thiele C, Simons K (2003) Amyloidogenic processing of the Alzheimer beta-amyloid precursor protein depends on lipid rafts. J Cell Biol 160:113-123
9. Folstein MF, Folstein SE, McHugh PR. (1975) "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189-198
10. Grundke-Iqbal I, Iqbal K, Tung YC, Quinlan M, Wisniewski HM, Binder LI (1986) Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology. Proc Natl Acad Sci USA 83:4913-4917
11. Hartmann T (2001) Cholesterol A beta and Alzheimer's disease. Trends Neurosci 24:S45-48
12. Hill WG (1974) Estimation of linkage disequilibrium in randomly mating populations. Heredity 33:229-239
13. Kang J, Lemaire HG, Unterbeck A, Salbaum JM, Masters CL, Grzeschik KH, Multhaup G, Beyreuther K, Muller-Hill B (1987) The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 325:733-773
14. Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu YT, Roskin KM, Schwartz M, Sugnet CW, Thomas DJ, Weber RJ, Haussler D, Kent WJ (2003) The UCSC Genome Browser Database. Nucleic Acids Res 31:51-4
15. Kölsch H, Lutjohann D, Ludwig M, Schulte A, Ptok U, Jessen F, Bergmann K von, Rao ML, Maier W, Henn R (2002) Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease. Mol Psychiatry 7:899-902
16. Lenhard B, Sandelin A, Mendoza L, Engström P, Jareborg N, Wasserman WW (2003) Identification of conserved regulatory regions by comparative genome analysis. J Biol 2:13
17. Lund EG, Guileyardo JM, Russell DW (1999) cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci USA 96:7238-7243
18. Masters CL, Simms G, Weinman NA, Multhaup G, McDonald BL, Beyreuther K (1985) Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc Natl Acad Sci USA 82:4245-4249
19. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (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
20. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, Vogel FS, Hughes JP, Belle G van, Berg L (1991) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 41:479-486
21. Papassotiropoulos A, Streffer JR, Tsolaki M, Schmid S, Thal D, Nicosia F, Iakovidou V, Maddalena A, Lutjohann D, Ghebremedhin E, Hegi T, Pasch T, Traxler M, Bruhl A, Benussi L, Binetti G, Braak H, Nitsch RM, Hock C (2003) Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. Arch Neurol 60:29-35
22. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
23. Prince JA, Feuk L, Howell WM, Jobs M, Emahazion T, Blennow K, Brookes AJ (2001) Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation. Genome Res 11:152-162
24. Prince JA, Feuk L, Gu HF, Johansson B, Gatz M, Blennow K, Brookes AJ (2003) Geneiic variation in a haplotype block spanning IDE influences Alzheimer disease. Hum Mutat 22:363-371
25. Prince JA, Zetterberg H, Andreasen N, Marcusson J, Blennow K (2004) The APOE E4 allele is associated with reduced cerebrospinal fluid levels of Aβ42. Neurology (in press)
26. Puglielli L, Tanzi RE, Kovacs DM (2003) Alzheimer's disease: the cholesterol connection. Nat Neurosci 6:345-351
27. Sandelin A, Alkema W, Engström P, Wasserman WW, Lenhard B (2004) JASPAR: an open-access database for eukaryotic transcription factor binding profiles. Nucleic Acids Res 32 (in press)
28. Selkoe DJ (2001) Alzheimer's disease: genes, proteins, and therapy. Physiol Rev 81:741-766
29. Simons M, Keller P, Dichgans J, Schulz JB (2001) Cholesterol and Alzheimer's disease: is there a link? Neurology 25:57:1089-1093
30. Simons M, Schwarzler F, Lutjohann D, Bergmann K von, Beyreuther K, Dichgans J, Wormstall H, Hartmann T, Schulz JB (2002) Treatment with sinivastatin in normocholesterolemic patients with Alzheimer's disease: a 26-week randomized, placebo-controlled, double-blind trial. Ann Neurol 52:346-350
31. Sjögren M, Davidsson P, Tullberg M, Minthon L, Wallin A, Wikkelso C, Granerus AK, Vanderstichele H, Vanmechelen E, Blennow K (2001) Both total and phosphorylated tau are increased in Alzheimer's disease. J Neurol Neurosurg Psychiatry 70:624-630
32. Stormo GD (2000) DNA binding sites: representation and discovery. Bioinformatics 16:16-23
33. Vanderstichele H, Van Kerschaver E, Hesse C, Davidsson P, Buyse MA, Andreasen N, Minthon L, Wallin A, Blennow K, Vanmechelen E (2000) Standardization of measurement of beta-amyloid(1-42) in cerebrospinal fluid and plasma. Amyloid 7:245-258
34. Vanmechelen E, Vanderstichele H, Davidsson P, Van Kerschaver E, Van Der Perre B, Sjögren M, Andreasen N, Blennow K (2000) Quantification of tau phosphorylated at threonine 181 in human cerebrospinal fluid: a sandwich ELISA with a synthetic phosphopeptide for standardization. Neurosci Lett 285:49-52
35. Wolozin B, Kellman W, Ruosseau P, Celesia GG, Siegel G (2000) Decreased prevalence of Alzheimer disease associated with 3-hydroxy-3-methyglutaryl coenzyme A reductase inhibitors. Arch Neurol 57:1439-1443
36. Xia W (2001) Amyloid metabolism and secretases in Alzheimer's disease. Curr Neurol Neurosci Rep 1:422-427
37. Yusuf S, Peto R, Lewis J, Collins R, Sleight P (1985) Beta blockade during and after myocardial infarction: an overview of the randomized trials. Prog Cardiovasc Dis 27:335-371