Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

Neurobiology of Aging

Volumn 32, Issue 3, 2011, Pages 547.e11-547.e16

  Ezquerra, Mario ^a   Pastor, Pau ^b,c   Gaig, Carles ^a   Vidal Taboada, Jose M ^b   Cruchaga, Carlos ^b   Muñoz, Esteban ^a   Martí, Maria Jose ^a   Valldeoriola, Francesc ^a   Aguilar, Miquel ^d   Calopa, Matilde ^e   Hernandez Vara, Jorge ^f   Tolosa, Eduardo ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b UNIVERSITY OF NAVARRA   (Spain)

^c UNIVERSITY CLINIC OF NAVARRA   (Spain)

^d Hospital Mutua de Tarrassa   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Haplotype; MAPT; Parkinson's disease; Progressive supranuclear palsy

Indexed keywords

GENE PRODUCT; PROTEIN MAPT; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MAPT GENE; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79952826828     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2009.09.011     Document Type: Article

References (34)

1. 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.
2. Benjamini Y., Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J. R. Stat. Soc. Series B: Stat. Method. 1995, 57:289-300.
3. Caffrey T.M., Joachim C., Paracchini S., Esiri M.M., Wade-Martins R. Haplotype-specific expression of exon 10 at the human MAPT locus. Hum. Mol. Genet. 2006, 15:3529-3537.
4. Chambers C.B., Lee J.M., Troncoso J.C., Reich S., Muma N.A. Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer's disease. Ann. Neurol. 1999, 46(3):325-332.
5. Cruchaga C., Vidal-Taboada J.M., Ezquerra M., Lorenzo E., Martinez-Lage P., Blazquez M., Tolosa E., Pastor P. 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiol. Dis. 2009, 33:164-170. The Iberian Atypical Parkinsonism Study Group Researchers.
6. Ezquerra M., Campdelacreu J., Muñoz E., Oliva R., Tolosa E. Sequence analysis of tau 3' untranslated region and saitohin gene in sporadic progressive supranuclear palsy. J. Neurol. Neurosurg. Psychiatry 2004, 75:155-157.
7. Ezquerra M., Gaig C., Ascaso C., Muñoz E., Tolosa E. Tau and saitohin gene expression pattern in progressive supranuclear palsy. Brain Res. 2007, 1145:168-176.
8. Fidani L., Kalinderi K., Bostantjopoulou S., Clarimon J., Goulas A., Katsarou Z., Hardy J., Kotsis A. Association of the Tau haplotype with Parkinson's disease in the Greek population. Mov. Disord. 2006, 21:1036-1039.
9. Healy D.G., Abou-Sleiman P.M., Lees A.J., Casas J.P., Quinn N., Bhatia K., Hingorani A.D., Wood N.W. Tau gene and Parkinson's disease: a case-control study and meta-analysis. J. Neurol. Neurosurg. Psychiatry 2004, 75:962-965.
10. Houlden H., Baker M., Morris H.R., MacDonald N., Pickering-Brown S., Adamson J., Lees A.J., Rossor M.N., Quinn N.P., Kertesz A., Khan M.N., Hardy J., Lantos P.L., St George-Hyslop P., Munoz D.G., Mann D., Lang A.E., Bergeron C., Bigio E.H., Litvan I., Bhatia K.P., Dickson D., Wood N.W., Hutton M. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001, 56(12):1702-1706.
11. Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55:181-184.
12. Kauwe J.S., Cruchaga C., Mayo K., Fenoglio C., Bertelsen S., Nowotny P., Galimberti D., Scarpini E., Morris J.C., Fagan A.M., Holtzman D.M., Goate A.M. Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:8050-8054.
13. Kwok J.B., Teber E.T., Loy C., Hallupp M., Nicholson G., Mellick G.D., Buchanan D.D., Silburn P.A., Schofield P.R. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann. Neurol. 2004, 55:329-334.
14. Laws S.M., Friedrich P., Diehl-Schmid J., Müller J., Eisele T., Bäuml J., Förstl H., Kurz A., Riemenschneider M. Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causal variants in Alzheimer's disease. Mol. Psychiatry 2007, 12:510-517.
15. Myers A.J., Pittman A.M., Zhao A.S., Rohrer K., Kaleem M., Marlowe L., Lees A., Leung D., McKeith I.G., Perry R.H., Morris C.M., Trojanowski J.Q., Clark C., Karlawish J., Arnold S., Forman M.S., Van Deerlin V., de Silva R., Hardy J. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol. Dis. 2007, 25:561-570.
16. Myers A.J., Kaleem M., Marlowe L., Pittman A.M., Lees A.J., Fung H.C., Duckworth J., Leung D., Gibson A., Morris C.M., 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.
17. Pastor P., Ezquerra M., Muñoz E., Martí M.J., 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.
18. Pastor P., Ezquerra M., Tolosa E., Muñoz E., Martí M.J., Valldeoriola F., Molinuevo J.L., Calopa M., Oliva R. Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov. Disord. 2002, 17:550-556.
19. Pastor P., Tolosa E. Progressive supranuclear palsy: clinical and genetic aspects. Curr. Opin. Neurol. 2002, 15:429-437.
20. Pastor P., Ezquerra M., Perez J.C., Chakraverty S., Norton J., Racette B.A., McKeel D., Perlmutter J.S., Tolosa E., Goate A.M. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann. Neurol. 2004, 56:249-258.
21. Pittman A.M., Myers A.J., Duckworth J., Bryden L., Hanson M., Abou-Sleiman P., Wood N.W., Hardy J., Lees A., de Silva R. The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Mol. Genet. 2004, 13:1267-1274.
22. Pittman A.M., Myers A.J., Abou-Sleiman P., Fung H.C., Kaleem M., Marlowe L., Duckworth J., Leung D., Williams D., Kilford L., Thomas N., Morris C.M., Dickson D., Wood N.W., Hardy J., Lees A.J., 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(11):837-846.
23. Rademakers R., Melquist S., Cruts M., Theuns J., Del-Favero J., Poorkaj P., Baker M., Sleegers K., Crook R., De Pooter T., Bel Kacem S., Adamson J., Van den Bossche D., Van den Broeck M., Gass J., Corsmit E., De Rijk P., Thomas N., Engelborghs S., Heckman M., Litvan I., Crook J., De Deyn P.P., Dickson D., Schellenberg G.D., Van Broeckhoven C., Hutton M.L. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum. Mol. Genet. 2005, 14:3281-3292.
24. Skipper L., Wilkes K., Toft M., Baker M., Lincoln S., Hulihan M., Ross O.A., Hutton M., Aasly J., Farrer M. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am. J. Hum. Genet. 2004, 75:669-677.
25. Spillantini M.G., Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurosci. 1998, 21:428-433.
26. Stefansson H., Helgason A., Thorleifsson G., Steinthorsdottir V., Masson G., Barnard J., Baker A., Jonasdottir A., Ingason A., Gudnadottir V.G., Desnica N., Hicks A., Gylfason A., Gudbjartsson D.F., Jonsdottir G.M., Sainz J., Agnarsson K., Birgisdottir B., Ghosh S., Olafsdottir A., Cazier J.B., Kristjansson K., Frigge M.L., Thorgeirsson T.E., Gulcher J.R., Kong A., Stefansson K. A common inversion under selection in Europeans. Nat. Genet. 2005, 37:129-137.
27. Sundar P.D., Yu C.E., Sieh W., Steinbart E., Garruto R.M., Oyanagi K., Craig U.K., Bird T.D., Wijsman E.M., Galasko D.R., Schellenberg G.D. Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum. Mol. Genet. 2007, 16:295-306.
28. Takanashi M., Mori H., Arima K., Mizuno Y., Hattori N. Expression patterns of tau mRNA isoforms correlate with susceptible lesions in progressive supranuclear palsy and corticobasal degeneration. Brain Res. Mol. Brain Res. 2002, 104:210-219.
29. Tobin J.E., Latourelle J.C., Lew M.F., Klein C., Suchowersky O., Shill H.A., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Racette B.A., Perlmutter J.S., Watts R., Guttman M., Baker K.B., Goldwurm S., Pezzoli G., Singer C., Saint-Hilaire M.H., Hendricks A.E., Williamson S., Nagle M.W., Wilk J.B., Massood T., Laramie J.M., DeStefano A.L., Litvan I., Nicholson G., Corbett A., Isaacson S., Burn D.J., Chinnery P.F., Pramstaller P.P., Sherman S., Al-hinti J., Drasby E., Nance M., Moller A.T., Ostergaard K., Roxburgh R., Snow B., Slevin J.T., Cambi F., Gusella J.F., Myers R.H. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology 2008, 71:28-34.
30. Vandrovcova J., Pittman A.M., Malzer E., Abou-Sleiman P.M., Lees A.J., Wood N.W., de Silva R. Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. Neurobiol. Aging 2007, DOI number: 18162161.
31. Verpillat P., Camuzat A., Hannequin D., Thomas-Anterion C., Puel M., Belliard S., Dubois B., Didic M., Michel B.F., Lacomblez L., Moreaud O., Sellal F., Golfier V., Campion D., Clerget-Darpoux F., Brice A. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 1999, 8:711-715.
32. Winkler S., Konig I.R., Lohmann-Hedrich K., Vieregge P., Kostic V., Klein C. Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease. Eur. J. Hum. Genet. 2007, 15:1163-1168.
33. Zabetian C.P., Hutter C.M., Factor S.A., Nutt J.G., Higgins D.S., Griffith A., Roberts J.W., Leis B.C., Kay D.M., Yearout D., Montimurro J.S., Edwards K.L., Samii A., Payami H. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. Ann. Neurol. 2007, 62:137-144.
34. 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.