Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts

Neurodegenerative Diseases

Volumn 3, Issue 6, 2007, Pages 327-333

  Fung, H C ^a,b,c   Xiromerisiou, G ^a,d   Gibbs, J R ^a   Wu, Y R ^c   Eerola, J ^e   Gourbali, V ^d   Hellstrom O ^e   Chen, C M ^c   Duckworth, J ^a   Papadimitriou, A ^d   Tienari, P J ^f   Hadjigeorgiou, G M ^d   Hardy, J ^a   Singleton, A B ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHANG GUNG UNIVERSITY   (Taiwan)

^d UNIVERSITY OF THESSALY   (Greece)

^e SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Haplotype H1; MAPT polymorphisms; Parkinson's disease; Tau protein

Indexed keywords

TAU PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNICITY; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GREECE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; FINLAND; GREECE; HAPLOTYPES; HUMANS; INTRONS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; TAIWAN; TAU PROTEINS;

EID: 33845961057     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000097301     Document Type: Article

References (24)

1. Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM: Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 1998;282:1914-1917.
2. Forman MS, Lee VM, Trojanowski JQ: New insights into genetic and molecular mechanisms of brain degeneration in tauopathies. J Chem Neuroanat 2000;20:225-244.
3. 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, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
4. 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.
5. Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, Donati C, Frasson E, Marchese R, Montagna P, Munoz DG, Pramstaller PP, Zanusso G, Ajmar F, Mandich P: Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 2000;47:374-377.
6. 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.
7. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia, KP, Dickson D, Wood NW, Hutton M: Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001;56:1702-1706.
8. 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.
9. Kwok JB, Teber ET, Loy C, Hallupp M, Nicholson G, Mellick GD, Buchanan DD, Silburn PA, Schofield PR: Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol 2004;55:329-334.
10. Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J: The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum Mol Genet 2005;14:2399-2404.
11. Pastor P, Ezquerra M, Perez JC, Chakraverty S, Norton J, Racette BA, McKeel D, Perlmutter JS, Tolosa E, Goate AM: Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann Neurol 2004;56:249-258.
12. Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson DW, Wood NW, Hardy J, Lees AJ, de Silva R: Linkage disequilibrium fine-mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet 2005;42:837-846.
13. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M: Alpha-synuclein in Lewy bodies. Nature 1997;388:839-840.
14. Lee VM, Giasson BI, Trojanowski JQ: More than just two peas in a pod: common amyloidogenic properties of tau and alpha-synuclein in neurodegenerative diseases. Trends Neurosci 2004;27:129-134.
15. Arima K, Hirai S, Sunohara N, Aoto K, Izumiyama Y, Ueda K, Ikeda K, Kawai M: Cellular co-localization of phosphorylated tau-and NACP/alpha-synuclein- epitopes in lewy bodies in sporadic Parkinson's disease and in dementia with Lewy bodies. Brain Res 1999;843:53-61.
16. Jensen PH, Hager H, Nielsen MS, Hojrup P, Gliemann J, Jakes R: alpha-synuclein binds to Tau and stimulates the protein kinase A-catalyzed tau phosphorylation of serine residues 262 and 356. J Biol Chem 1999;274:25481- 25489.
17. Mamah CE, Lesnick TG, Lincoln SJ, Strain KJ, de Andrade M, Bower JH, Ahlskog JE, Rocca WA, Farrer MJ, Maraganore DM: Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. Ann Neurol 2005;57:439-443.
18. Healy DG, Abou-Sleiman PM, Lees AJ, Casas JP, Quinn N, Bhatia K, Hingorani AD, Wood NW: Tau gene and Parkinson's disease: a case-control study and meta-analysis. J Neurol Neurosurg Psychiatry 2004;75:962-965.
19. Zhang J, Song Y, Chen H, Fan D: The tau gene haplotype h1 confers a susceptibility to Parkinson's disease. Eur Neurol 2005;53:15-21.
20. Hughes AJ, Daniel SE, Kilford L, Lees AJ: Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
21. Clarimon J, Xiromerisiou G, Eerola J, Gourbali V, Hellstrom O, Dardiotis E, Peuralinna T, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Singleton AB: Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients. BMC Neurol 2005;5:11.
22. Schneider SKJ, Roessli D, Excoffier L: Arlequin: A Software Environment for the Analysis of Population Genetics Data. Geneva, University of Geneva, 2000.
23. Shi YY, He L: SHEsis: a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005;15:97-98.
24. Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, Silva R, Myers A, Vrieze FW, Singleton A, Hardy J: The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett 2004;369:183-185.