Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease

BMC Neurology

Volumn 9, Issue , 2009, Pages

  Refenes, Nikolaos ^a,b   Bolbrinker, Juliane ^b   Tagaris, Georgios ^c   Orlacchio, Antonio ^d,e   Drakoulis, Nikolaos ^a   Kreutz, Reinhold ^b  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c G GENNIMATAS GENERAL HOSPITAL   (Greece)

^d IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^e UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN; MAPT PROTEIN, HUMAN;

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GREECE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; CONFIDENCE INTERVAL; ETHNOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; RISK;

AGED; CONFIDENCE INTERVALS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREECE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; TAU PROTEINS;

EID: 67651028060     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-9-26     Document Type: Article

References (45)

1. Mizuno Y Second International Symposium on the Treatment of Parkinson's Disease Neurology 1998, 51:S1 9711972
2. Jankovic J Parkinson's disease: Clinical features and diagnosis J Neurol Neurosurg Psychiatry 2008, 79:368-376 10.1136/jnnp.2007.131045 18344392
3. Forno LS Neuropathology of Parkinson's disease J Neuropathol Exp Neurol 1996, 55:259-272 10.1097/00005072-199603000-00001 8786384
4. Volles MJ Lansbury PT Jr Zeroing in on the pathogenic form of alpha-synuclein and its mechanism of neurotoxicity in Parkinson's disease Biochemistry 2003, 42:7871-7878 10.1021/bi030086j 12834338
5. 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 10.1074/jbc.274.36.25481 10464279
6. Giasson BI Forman MS Higuchi M Golbe LI Graves CL Kotzbauer PT Trojanowski JQ Lee VM Initiation and synergistic fibrillization of tau and alpha-synuclein Science 2003, 300:636-640 10.1126/science.1082324 12714745
7. Higuchi M Lee VM Trojanowski JQ Tau and axonopathy in neurodegenerative disorders Neuromolecular Med 2002, 2:131-150 10.1385/NMM:2:2:131 12428808
8. 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 10.1093/hmg/8.4.711 10072441
9. 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, 37:129-137 10.1038/ng1508 15654335
10. Pastor P Ezquerra M Tolosa E Muñoz E Martí MJ Valldeoriola F Molinuevo JL Calopa M Oliva R Further extension of the H1 haplotype associated with progressive supranuclear palsy Mov Disord 2002, 17:550-556 10.1002/mds.10076 12112206
11. 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 10.1001/ jama.286.18.2239 11710888
12. Galpern WR Lang AE Interface between tauopathies and synucleinopathies: a tale of two proteins Ann Neurol 2006, 59:449-458 10.1002/ana.20819 16489609
13. Clark LN Levy G Tang MX Mejia-Santana H Ciappa A Tycko B Cote LJ Louis ED Mayeux R Marder K The Saitohin 'Q7R' polymorphism and tau haplotype in multi-ethnic Alzheimer disease and Parkinson's disease cohorts Neurosci Lett 2003, 347:17-20 10.1016/S0304-3940(03)00635-9 12865131
14. 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 10.1016/S0304-3940(02)00742-5 12231446
15. 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 10.1016/S0304-3940(02)00106-4 11958849
16. 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 10.1002/ mds.20864 16552760
17. Fung HC Xiromerisiou G Gibbs JR Wu YR Eerola J Gourbali V Hellström O Chen CM Duckworth J Papadimitriou A Tienari PJ Hadjigeorgiou GM Hardy J Singleton AB Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts Neurodegener Dis 2006, 3:327-333 10.1159/000097301 17192721
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 1739086 15201350 10.1136/jnnp.2003.026203
19. Johansson A Zetterberg H Hakansson A Nissbrandt H Blennow K 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 Neurodegener Dis 2005, 2:28-35 10.1159/ 000086428 16909000
20. 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 10.1002/ ana.10826 14991810
21. Levecque C Elbaz A Clavel J Vidal JS Amouyel P Alpérovitch A Tzourio C Chartier-Harlin MC Association of polymorphisms in the Tau and Saitohin genes with Parkinson's disease J Neurol Neurosurg Psychiatry 2004, 75:478-480 1738939 14966169 10.1136/jnnp.2003.015750
22. Maraganore DM Hernandez DG Singleton AB Farrer MJ McDonnell SK Hutton ML Hardy JA Rocca WA Case-Control study of the extended tau gene haplotype in Parkinson's disease Ann Neurol 2001, 50:658-661 10.1002/ana.1228 11706972
23. Pastor P Ezquerra M Munoz E Martí 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 10.1002/ 1531-8249(200002)47:2<242::AID-ANA16>3.0.CO;2-L 10665497
24. Peplonska B Zekanowski C Religa D Czyzewski K Styczyñska M Pfeffer A Gabryelewicz T Gołebiowski M Luczywek E Wasiak B Barczak A Chodakowska M Barcikowska M Kuźnicki J Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population Neurosci Lett 2003, 348:163-166 10.1016/S0304-3940(03)00788-2 12932819
25. Winkler S Konig IR 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 10.1038/ sj.ejhg.5201901 17637803
26. Zappia M Annesi G Nicoletti G Serra P Arabia G Pugliese P Messina D Caracciolo M Romeo N Annesi F Pasqua AA Spadafora P Civitelli D Romeo N Epifanio A Morgante L Quattrone A Association of tau gene polymorphism with Parkinson's disease Neurol Sci 2003, 24:223-224 10.1007/ s10072-003-0141-z 14600827
27. Zabetian CP Hutter CM Factor SA Nutt JG Higgins DS Griffith A Roberts JW Leis BC Kay DM Yearout D Montimurro JS Edwards KL Samii A Payami H Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease Ann Neurol 2007, 62:137-144 10.1002/ana.21157 17514749
28. 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 10.1016/ j.neulet.2004.05.119 15464261
29. Goris A Williams-Gray CH Clark GR Foltynie T Lewis SJ Brown J Ban M Spillantini MG Compston A Burn DJ Chinnery PF Barker RA Sawcer SJ Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease Ann Neurol 2007, 62:145-153 10.1002/ana.21192 17683088
30. 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 H1 in Parkinson disease Am J Hum Genet 2004, 75:669-677 1182054 15297935 10.1086/424492
31. Tobin JE Latourelle JC Lew MF Klein C Suchowersky O Shill HA Golbe LI Mark MH Growdon JH Wooten GF Racette BA Perlmutter JS Watts R Guttman M Baker KB Goldwurm S Pezzoli G Singer C Saint-Hilaire MH Hendricks AE Williamson S Nagle MW Wilk JB Massood T Laramie JM DeStefano AL Litvan I Nicholson G Corbett A Isaacson S Burn DJ Chinnery PF Pramstaller PP Sherman S Al-hinti J Drasby E Nance M Moller AT Ostergaard K Roxburgh R Snow B Slevin JT Cambi F Gusella JF Myers RH Haplotypes and gene expression implicate the MAPT region for Parkinson disease. The GenePD Study Neurology 2008, 71:28-34 2654275 18509094 10.1212/ 01.wnl.0000304051.01650.23
32. Hughes AJ Daniel SE Lees AJ Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease Neurology 2001, 57:1497-9 11673599
33. Goetz CG Fahn S Martinez-Martin P Poewe W Sampaio C Stebbins GT Stern MB Tilley BC Dodel R Dubois B Holloway R Jankovic J Kulisevsky J Lang AE Lees A Leurgans S LeWitt PA Nyenhuis D Olanow CW Rascol O Schrag A Teresi JA Van Hilten JJ LaPelle N Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan Mov Disord 2007, 22:41-47 10.1002/mds.21198 17115387
34. Laws SM 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 indentifies possible causal variants in Alzheimer's disease Mol Psychiatry 2007, 12:510-517 17179995
35. 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 D 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, 42:837-46 1735957 15792962 10.1136/jmg.2005.031377
36. Barrett JC Fry B Maller J Daly MJ Haploview: Analysis and visualization of LD and haplotype maps Bioinformatics 2005, 21:263-265 10.1093/ bioinformatics/bth457 15297300
37. Stephens M Smith NJ Donnelly P A new statistical method for haplotype reconstruction from population data Am J Hum Genet 2001, 68:978-989 1275651 11254454 10.1086/319501
38. 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 10.1159/ 000082956 15627775
39. McCulloch CC Kay DM Factor SA Samii A Nutt JG Higgins DS Griffith A Roberts JW Leis BC Montimurro JS Zabetian CP Payami H Exploring gene-environment interactions in Parkinson's disease Hum Genet 2008, 123:257-265 10.1007/s00439-008-0466-z 18210157
40. Wittmann CW Wszolek MF Shulman JM Salvaterra PM Lewis J Hutton M Feany MB Tauopathy in Drosophila: Neurodegeneration without neurofibrillary tangles Science 2001, 293:711-714 10.1126/science.1062382 11408621
41. Pankratz N Wilk JB Latourelle JC DeStefano AL Halter C Pugh EW Doheny KF Gusella JF Nichols WC Foroud T Myers RH PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories Genomewide association study for susceptibility genes contributing to familial Parkinson disease Hum Genet 2009, 124:593-605 10.1007/ s00439-008-0582-9 18985386
42. 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 H1 haplotype Neurogenetics 2004, 3:147-55 10.1007/s10048-004-0180-5
43. Vandrovcova J Pittman AM Malzer E Abou-Sleiman PM Lees AJ Wood NW de Silva R Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease Neurobiol Aging 2007
44. Schubert M Breakefield X Federoff H Frederickson RM Lowenstein PR Gene delivery to the nervous system Mol Ther 2008, 16:640-646 2630580 18362921 10.1038/mt.2008.42
45. Dass B Olanow CW Kordower JH Gene transfer of trophic factors and stem cell grafting as treatments for Parkinson's disease Neurology 2006, 66:S89-103 16717256