TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease

Neurodegenerative Diseases

Volumn 2, Issue 1, 2005, Pages 28-35

  Johansson, Annica ^a,d   Zetterberg, Henrik ^a,c   Håkansson, Anna ^b   Nissbrandt, Hans ^b   Blennow, Kaj ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c HARVARD MEDICAL SCHOOL   (United States)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Amyloid; Alzheimer's disease; Apolipoprotein E; Frontotemporal dementia; Neurofibrillary tangles; Parkinson's disease; Saitohin; Senile plaques; TAU haplotype; Tau protein

Indexed keywords

TAU PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DISEASE ASSOCIATION; FEMALE; FRONTAL CORTEX; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPATHOLOGY; PARKINSON DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; BRAIN; BRAIN CHEMISTRY; CASE-CONTROL STUDIES; DEMENTIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEPTIDE FRAGMENTS; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; TAU PROTEINS;

EID: 23844537812     PISSN: 16602854     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086428     Document Type: Article

References (53)

1. Lee VM, Goedert M, Trojanowski JQ: Neurodegenerative tauopathies. Annu Rev Neurosci 2001;24:1121-1159.
2. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Heutink P, et al: Association of missense and 5 5-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
3. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD: Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43:815-825.
4. Neumann M, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA: Pick's disease associated with the novel Tau gene mutation K369I. Ann Neurol 2001;50:503-513.
5. Litvan I, Lees AJ: Progressive supranuclear palsy. Adv Neurol 1999;80:341-345.
6. Vila M, Przedborski S: Genetic clues to the pathogenesis of Parkinson's disease. Nat Med 2004;10(Suppl):S58-S62.
7. Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Slotterbeck B, Booze MW, Ribble RC, Rampersaud E, West SG, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Vance JM, Pericak-Vance MA: Complete genomic screen in Parkinson disease: Evidence for multiple genes. JAMA 2001;286:2239-2244.
8. Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW, Lees AJ, Revesz T, Lantos P, Rossor MN: The genetic and pathological classification of familial frontotemporal dementia. Arch Neurol 2001;58:1813-1816.
9. Lansbury PT Jr, Brice A: Genetics of Parkinson's disease and biochemical studies of implicated gene products. Curr Opin Genet Dev 2002;12:299-306.
10. Pastor P, Ezquerra M, Munoz E, Marti MJ, Blesa R, Tolosa E, Oliva R: Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 2000;47: 242-245.
11. Golbe LI, Lazzarini AM, Spychala JR, Johnson WG, Stenroos ES, Mark MH, Sage JI: The tau A0 allele in Parkinson's disease. Mov Disord 2001;16:442-447.
12. Hoenicka J, Perez M, Perez-Tur J, Barabash A, Godoy M, Vidal L, Astarloa R, Avila J, Nygaard T, de Yebenes JG: The tau gene A0 allele and progressive supranuclear palsy. Neurology 1999;53:1219-1225.
13. Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Ribble RC, Booze MW, Rogala A, Hauser MA, Zhang F, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Pericak-Vance MA, Vance JM: Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 2001;286: 2245-2250.
14. Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999;8:711-715.
15. Bullido MJ, Aldudo J, Frank A, Coria F, Avila J, Valdivieso F: A polymorphism in the tau gene associated with risk for Alzheimer's disease. Neurosci Lett 2000;278:49-52.
16. Lilius L, Froelich Fabre S, Basun H, Forsell C, Axelman K, Mattila K, Andreadis A, Viitanen M, Winblad B, Fratiglioni L, Lannfelt L: Tau gene polymorphisms and apolipoprotein E epsilon4 may interact to increase risk for Alzheimer's disease. Neurosci Lett 1999;277:29-32.
17. Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Fuel M, Belliard S, Dubois B, Didic M, Michel BF, Lacomblez L, Moreaud O, Sellal F, Golfier V, Campion D, Clerget-Darpoux F, Brice A: Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol 2002;59:935-939.
18. Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T: Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997;41:277-281.
19. de Silva R, Hardy J, Crook J, Khan N, Graham EA, Morris CM, Wood NW, Lees AJ: The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease. Neurosci Lett 2002;330:201-203.
20. Farrer M, Skipper L, Berg M, Bisceglio G, Hanson M, Hardy J, Adam A, Gwinn-Hardy K, Aasly J: The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. Neurosci Lett 2002;322:83-86.
21. Conrad C, Vianna C, Freeman M, Davies P: A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease. Proc Natl Acad Sci USA 2002;99:7751-7756.
22. Verpillat P, Ricard S, Hannequin D, Dubois B, Bou J, Camuzat A, Pradier L, Frebourg T, Brice A, Clerget-Darpoux F, Deleuze JF, Campion D: Is the saitohin gene involved in neurodegenerative diseases? Ann Neurol 2002;52:829-832.
23. Crawford F, Freeman M, Town T, Fallin D, Gold M, Duara R, Mullan M: No genetic association between polymorphisms in the Tau gene and Alzheimer's disease in clinic- or population-based samples. Neurosci Lett 1999;266:193-196.
24. Combarros O, Rodero L, Infante J, Palacio E, Llorca J, Fernandez-Viadero C, Pena N, Berciano J: Age-dependent association between the Q7R polymorphism in the Saitohin gene and sporadic Alzheimer's disease. Dement Geriatr Cogn Disord 2003;16:132-135.
25. Cook L, Brayne CE, Easton D, Evans JG, Xuereb J, Cairns NJ, Rubinsztein DC: No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann Neurol 2002;52:690-691.
26. 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.
27. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF: Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
28. Fabre SF, Forsell C, Viitanen M, Sjogren M, Wallin A, Blennow K, Blomberg M, Andersen C, Wahlund LO, Lannfelt L: Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations. Exp Neurol 2001;168:413-418.
29. Folstein MF, Folstein SE, McHugh PR: 'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
30. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, Vogel FS, Hughes JP, van Belle G, Berg L: The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). 2. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991;41:479-486.
31. Alafuzoff I, Iqbal K, Friden H, Adolfsson R, Winblad B: Histopathological criteria for progressive dementia disorders: Clinical-pathological correlation and classification by multivariate data analysis. Acta Neuropathol (Berl) 1987;74:209-225.
32. Daniel SE, Lees AJ: Parkinson's Disease Society Brain Bank, London: Overview and research. J Neural Transm Suppl 1993;39:165-172.
33. Andreasen N, Hesse C, Davidsson P, Minthon L, Wallin A, Winblad B, Vanderstichele H, Vanmechelen E, Blennow K: Cerebrospinal fluid beta-amyloid(1-42) in Alzheimer disease: Differences between early- and late-onset Alzheimer disease and stability during the course of disease. Arch Neurol 1999;56:673-680.
34. Blennow K, Wallin A, Agren H, Spenger C, Siegfried J, Vanmechelen E: Tau protein in cerebrospinal fluid: A biochemical marker for axonal degeneration in Alzheimer disease? Mol Chem Neuropathol 1995;26:231-245.
35. Braak E, Braak H, Mandelkow EM: A sequence of cytoskeleton changes related to the formation of neurofibrillary tangles and neuropil threads. Acta Neuropathol (Berl) 1994;87:554-567.
36. Vanderstichele H, Van Kerschaver E, Hesse C, Davidsson P, Buyse MA, Andreasen N, Minthon L, Wallin A, Blennow K, Vanmechelen E: Standardization of measurement of beta-amyloid(1-42) in cerebrospinal fluid and plasma. Amyloid 2000;7:245-258.
37. Altman DG: Practical Statistics for Medical Research. London, Chapman & Hall, 1991.
38. Marder K, Levy G, Louis ED, Mejia-Santana H, Cote L, Andrews H, Harris J, Waters C, Ford B, Frucht S, Fahn S, Ottman R: Familial aggregation of early- and late-onset Parkinson's disease. Ann Neurol 2003;54:507-513.
39. Mizuta I, Nishimura M, Mizuta E, Yamasaki S, Ohta M, Kuno S, Ota M: Relation between the high production related allele of the interferon-gamma (IFN-gamma) gene and age at onset of idiopathic Parkinson's disease in Japan. J Neurol Neurosurg Psychiatry 2001;71: 818-819.
40. Peplonska B, Zekanowski C, Religa D, Czyzewski K, Styczynska M, Pfeffer A, Gabryelewicz T, Golebiowski M, Luczywek E, Wasiak B, Barczak A, Chodakowska M, Barcikowska M, Kuznicki J: Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population. Neurosci Lett 2003;348:163-166.
41. Ezquerra M, Campdelacreu J, Munoz E, Oliva R, Tolosa E: Sequence analysis of tau 33 untranslated region and saitohin gene in sporadic progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 2004;75:155-157.
42. Baker M, Graff-Radford D, Wavrant DeVrieze F, Graff-Radford N, Petersen RC, Kokmen E, Boeve B, Myllykangas L, Polvikoski T, Sulkava R, Verkoniemmi A, Tienari P, Haltia M, Hardy J, Hutton M, Perez-Tur J: No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease. Neurosci Lett 2000; 285:147-149.
43. Streffer JR, Papassotiropoulos A, Kurosinski P, Signorell A, Wollmer MA, Tsolaki M, Iakovidou V, Horndli F, Bosset J, Gotz J, Nitsch RM, Hock C: Saitohin gene is not associated with Alzheimer's disease. J Neurol Neurosurg Psychiatry 2003;74:362-363.
44. Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH: Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Arch Neurol 2003;60:698-702.
45. Hughes A, Mann D, Pickering-Brown S: Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Exp Neurol 2003;181:12-16.
46. Hardy J, Gwinn-Hardy K: Genetic classification of primary neurodegenerative disease. Science 1998;282:1075-1079.
47. Roks G, Dermaut B, Heutink P, Julliams A, Backhovens H, Van de Broeck M, Serneels S, Hofman A, Van Broeckhoven C, van Duijn CM, Cruts M: Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci Lett 1999;277:137-139.
48. Kwon JM, Nowotny P, Shah PK, Chakraverty S, Norton J, Morris JC, Goate AM: Tau polymorphisms are not associated with Alzheimer's disease. Neurosci Lett 2000;284:77-80.
49. Russ C, Powell JF, Zhao J, Baker M, Hutton M, Crawford F, Mullan M, Roks G, Cruts M, Lovestone S: The microtubule associated protein Tau gene and Alzheimer's disease - An association study and meta-analysis. Neurosci Lett 2001;314:92-96.
50. Ertekin-Taner N, Allen M, Fadale D, Scanlin L, Younkin L, Petersen RC, Graff-Radford N, Younkin SG: Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease. Hum Mutat 2004;23:334-342.
51. Abraham R, Myers A, Wavrant-DeVrieze F, Hamshere ML, Thomas HV, Marshall H, Compton D, Spurlock G, Turic D, Hoogendoorn B, Kwon JM, Petersen RC, Tangalos E, Norton J, Morris JC, Bullock R, Liolitsa D, Lovestone S, Hardy J, Goate A, O'Donovan M, Williams J, Owen MJ, Jones L: Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Hum Genet 2001;109:646-652.
52. Ertekin-Taner N, Graff-Radford N, Younkin LH, Eckman C, Baker M, Adamson J, Ronald J, Blangero J, Hutton M, Younkin SG: Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science 2000;290:2303-2304.
53. Prince JA, Feuk L, Gu HF, Johansson B, Gatz M, Blennow K, Brookes AJ: Genetic variation in a haplotype block spanning IDE influences Alzheimer disease. Hum Mutat 2003;22:363-371.