Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 147, Issue 3, 2008, Pages 403-407

  De Marco, E V ^a   Tarantino, P ^a   Rocca, F E ^a   Provenzano, G ^a   Civitelli, D ^a   De Luca, V ^b   Annesi, F ^a   Carrideo, S ^a   Ciro Candiano I C ^a   Romeo, N ^a   Nicoletti, G ^a   Marconi, R ^c   Novellino, F ^d   Morelli, M ^d   Quattrone, A ^a,d   Annesi, G ^a  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c MISERICORDIA HOSPITAL   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Association study; Rep1; SNCA

Indexed keywords

ALPHA SYNUCLEIN;

ADULT; AGED; ARTICLE; BRAIN CORTEX; CASE CONTROL STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; DEMENTIA; DNA POLYMORPHISM; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; LEWY BODY; LIMBIC CORTEX; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; REP1 GENE;

AGED; ALPHA-SYNUCLEIN; DEMENTIA; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS);

EID: 42149097166     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30611     Document Type: Article

References (34)

1. Aarsland D, Zaccai J, Brayne C. 2005a. A systematic review of prevalence studies of dementia in Parkinson's disease. Mov Disord 20:1255-1263.
2. Aarsland D, Perry R, Brown A, Larsen JP, Ballard C. 2005b. Neuropathology of dementia in Parkinson's disease: A prospective, community-based study. Ann Neurol 58:773-776.
3. Abou-Sleiman PM, Hanna MG, Wood NW. 2006. Genetic association studies of complex neurological diseases. J Neurol Neurosurg Psychiatry 77:1302-1304.
4. Chiba-Falek O, Nussbaum RL. 2001. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 10:3101-3109.
5. Civitelli D, Tarantino P, Nicoletti G, Ciro Candiano I, Annesi F, De Marco EV, Carrideo S, Rocca F, Condino F, Spadafora P, Pugliese P, D'Asero S, Morelli M, Paglionico S, Annesi G, Quattrone A. 2007. LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease. Clin Genet 71:367-370.
6. Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D. 2001. alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 10:1847-1851.
7. Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. 2005. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365:415-416.
8. Grigoletto F, Zappalà G, Anderson DW, Lebowitz BD. 1999. Norms for the Mini-Mental State Examination in a healthy population. Neurology 53:315-320.
9. Hadjigeorgiou GM, Xiromerisiou G, Gourbali V, Aggelakis K, Scarmeas N, Papadimitriou A, Singleton A. 2006. Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset. Mov Disord 21:534-539.
10. Healy DG. 2006. Case-control studies in the genomic era: A clinician's guide. Lancet Neurol 5:701-707.
11. Huang X, Chen P, Kaufer DI, Troster AI, Poole C. 2006. Apolipoprotein E and dementia in Parkinson disease: A meta-analysis. Arch Neurol 63:189-193.
12. Izumi Y, Morino H, Oda M, Maruyama H, Udaka F, Kameyama M, Nakamura S, Kawakami H. 2001. Genetic studies in Parkinson's disease with an arpha-synuclein/NACP gene polymorphism in Japan. Neurosci Lett 300:125-127.
13. Khan N, Graham E, Dixon P, Morris C, Mander A, Clayton D, Vaughan J, Quinn N, Lees A, Daniel S, Wood N, de Silva R. 2001. Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype. Ann Neurol 49:665-668.
14. Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O. 1998. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 18:106-108.
15. Kruger R, Vieira-Saecker AM, Kuhn W, Berg D, Muller T, Kuhnl N, Fuchs GA, Storch A, Hungs M, Woitalla D, Przuntek H, Epplen JT, Schols L, Riess O. 1999. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 45:611-617.
16. Kurz MW, Larsen JP, Kvaloy JT, Aarsland D. 2006. Associations between family history of Parkinson's disease and dementia and risk of dementia in Parkinson's disease: A community-based, longitudinal study. Mov Disord 21:2170-2174.
17. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Kruger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C. 2006. Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296:661-670.
18. Mellick GD, Maraganore DM, Silburn PA. 2005. Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. Neurosci Lett 375:112-116.
19. Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T. 2006. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 15:1151-1158.
20. Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wullner U, Meitinger T, Gasser T. 2005. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 57:535-541.
21. Oliveri RL, Zappia M, Annesi G, Bosco D, Annesi F, Spadafora P, Pasqua AA, Tomaino C, Nicoletti G, Pirritano D, Labate A, Gambardella A, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A. 2001. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 57:359-362.
22. Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ. 2004. alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol 56:591-595.
23. Papadimitriou A, Veletza V, Hadjigeorgiou GM, Patrikiou A, Hirano M, Anastasopoulos I. 1999. Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance? Neurology 52:651-654.
24. Parsian A, Racette B, Zhang ZH, Chakraverty S, Rundle M, Goate A, Perlmutter JS. 1998. Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. Neurology 51:1757-1759.
25. Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Durr A, Brice A. 2003. French Parkinson's Disease Genetics Study Group; European. Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271-1278.
26. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. 1997. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047.
27. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. 2003. alpha-Synuclein locus triplication causes Parkinson's disease. Science 302:841.
28. Sinha R, Racette B, Perlmutter JS, Parsian A. 2005. Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease. Parkinsonism Relat Disord 11:341-347.
29. Spadafora P, Annesi G, Pasqua AA, Serra P, Ciro Candiano IC, Carrideo S, Tarantino P, Civitelli D, De Marco EV, Nicoletti G, Annesi F, Quattrone A. 2003. NACP-REP1 polymorphism is not involved in Parkinson's disease: A case-control study in a population sample from southern Italy. Neurosci Lett 351:75-78.
30. Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, Ashizawa T. 2000. Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor? Neurology 54:1195-1198.
31. Tan EK, Tan C, Shen H, Chai A, Lum SY, Teoh ML, Yih Y, Wong MC, Zhao Y. 2003. Alpha synuclein promoter and risk of Parkinson's disease: Microsatellite and allelic size variability. Neurosci Lett 336:70-72.
32. Tan EK, Chai A, Teo YY, Zhao Y, Tan C, Shen H, Chandran VR, Teoh ML, Yih Y, Pavanni R, Wong MC, Puvan K, Lo YL, Yap E. 2004. Alpha-synuclein haplotypes implicated in risk of Parkinson's disease. Neurology 62:128-131.
33. Wang CK, Chen CM, Chang CY, Chang KH, Chen IC, Li ML, Lee-Chen GJ, Wu YR. 2006. alpha-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease. J Neural Transm 113:1425-1433.
34. Xia Y, Rohan de Silva HA, Rosi BL, Yamaoka LH, Rimmler JB, Pericak-Vance MA, Roses AD, Chen X, Masliah E, DeTeresa R, Iwai A, Sundsmo M, Thomas RG, Hofstetter CR, Gregory E, Hansen LA, Katzman R, Thal LJ, Saitoh T. 1996. Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. Ann Neurol 40:207-215.