Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

Journal of Medical Genetics

Volumn 42, Issue 11, 2005, Pages 837-846

  Pittman, A M ^a   Myers, A J ^c   Abou Sleiman, P ^b   Fung, H C ^a   Kaleem, M ^c   Marlowe, L ^c   Duckworth, J ^c   Leung, D ^c   Williams, D ^b   Kilford, L ^b   Thomas, N ^e   Morris, C M ^d   Dickson, D ^e   Wood, N W ^b   Hardy, J ^c   Lees, Andrew J ^a   De Silva, R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^e MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; COHORT ANALYSIS; CORTICOBASAL DEGENERATION; EXON; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

AGED; BRAIN; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NEURODEGENERATIVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS;

EID: 24644502474     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.031377     Document Type: Article

References (36)

1. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat 2004;24:277-95.
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, 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 JBJ, Schofield P, 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;393:702-5.
3. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998;95:7737-41.
4. Steele JC, Richardson JC, Olszewski J. Progressive supranuclear palsy. A heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. Arch Neurol 1964;10:333-59.
5. Maher ER, Lees AJ. The clinical features and natural history of the Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology 1986;36:1005-8.
6. Daniel SE, de Bruin VM, Lees AJ. The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal, Brain 1995;118:759-70.
7. Litvan I, Agid Y, Calne D, Campbell G, Dubois B, Duvoisin RC, Goetz CG, Golbe LI, Grafman J, Growdon JH, Hallett M, Jankovic J, Quinn NP, Tolosa E, Zee DS. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 1996;47:1-9.
8. de Yebenes JG, Sarasa JL, Daniel SE, Lees AJ. Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. Brain 1995;118:1095-103.
9. Rojo A, Pernaute RS, Fontan A, Ruiz PG, Honnorat J, Lynch T, Chin S, Gonzalo I, Rabano A, Martinez A, Daniel S, Pramstaller P, Morris H, Wood N, Lees A, Tabernero C, Nyggard T, Jackson AC, Hanson A, de Yebenes JG, Pramsteller P. Clinical genetics of familial progressive supranuclear palsy. Brain 1999;122:1233-45.
10. 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;41:277-81.
11. 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;47:374-7.
12. 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;56:1702-6.
13. Poorkaj P, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002;52:511-16.
14. Wszolek ZK, Tsuboi Y, Uitti RJ, Reed L, Hutton ML, Dickson DW. Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation. Brain 2001;124:1666-70.
15. Morris HR, Osaki Y, Holton J, Lees AJ, Wood NW, Revesz T, Quinn N. Tau exon 10+16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 2003;61:102-4.
16. Morris HR, Katzenschlager R, Janssen JC, Brown JM, Ozansoy M, Quinn N, Revesz T, Rossor MN, Daniel SE, Wood NW, Lees AJ. Sequence analysis of tau in familial and sporadic progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 2002;72:388-90.
17. 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;8:711-15.
18. Ezquerra M, Pastor P, Valldeoriola F, Molinuevo JL, Blesa R, Tolosa E, Oliva R. Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neurosci Lett 1999;275:183-6.
19. de Silva R, Weiler M, Morris HR, Martin ER, Wood NW, Lees AJ. Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. Neurosci Lett 2001;311:145-8.
20. Pittman AM, Myers AJ, Duckworth J, Bryden L, Hanson M, Abou-Sleiman P, Wood NW, Hardy J, Lees A, de Silva R. The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum Mol Genet 2004;13:1267-74.
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 U S A 2002;99:7751-6.
22. de Silva R, Hope A, Pittman A, Weale ME, Morris HR, Wood NW, Lees AJ. Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. Neurology 2003;61:407-9.
23. Ponting CP, Hutton M, Nyborg A, Baker M, Jansen K, Golde TE. Identification of a novel family of presenilin homologues. Hum Mol Genet 2002;11:1037-44.
24. 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;75:962-5.
25. Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M. Linkage disequilibrium and association of MAPT HI in Parkinson disease. Am J Hum Genet 2004;75:669-77.
26. Weale ME, Depondt C, Macdonald SJ, Smith A, Lai PS, Shorvon SD, Wood NW, Goldstein DB. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet 2003;73:551-65.
27. Lewontin RC. The interaction of selection and linkage. I General Considerations; heterotic models. Genetics 1964;49:49-67.
28. Morris HR, Janssen JC, Bandmann O, Daniel SE, Rossor MN, Lees AJ, Wood NW. The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J Neurol Neurosurg Psychiatry 1999;66:665-7.
29. Sham PC, Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995;59:97-105.
30. Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, de Silva R, Myers A, Vrieze FW, Singleton A, Hardy J. The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett 2004;369:183-5.
31. 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;16:442-7.
32. Oliveira SA, Scott WK, Zhang F, Stajich JM, Fujiwara K, Hauser M, Scott BL, Pericak-Vance MA, Vance JM, Martin ER. Linkage disequilibrium and haplotype tagging polymorphisms in the Tau HI haplotype. Neurogenetics 2004;5:147-55.
33. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. A common inversion under selection in Europeans. Nat Genet 2005;37:129-37.
34. 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;56:249-58.
35. 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;55:329-34.
36. Buee L, Delacourte A. Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease. Brain Pathol 1999;9:681-93.