Variant in the 30 region of SNCA associated with Parkinson's disease and serum α-synuclein levels

Journal of Neurology

Volumn 259, Issue 3, 2012, Pages 497-504

  Hu, Yacen ^a   Tang, Beisha ^a,b,c   Guo, Jifeng ^a,b   Wu, Xintian ^a   Sun, Qiying ^a   Shi, Changhe ^a   Hu, Liang ^a   Wang, Chunyu ^d   Wang, Lei ^a   Tan, Liming ^d   Shen, Lu ^a,b   Yan, Xinxiang ^a,b   Zhang, Hainan ^a,d  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c National Laboratory of Medical Genetics of China   (China)

^d CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Parkinson's disease; Polymorphism; Rep1; Rs11931074; Serum synuclein; SNCA

Indexed keywords

ALPHA SYNUCLEIN; SNCA PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ADULT; AGED; ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; BLOOD; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; GENETIC PREDISPOSITION; GENETICS; LEWY BODY; MIDDLE AGED; MUTATION; NONPARAMETRIC TEST; PARKINSONISM; PATHOLOGY;

3' UNTRANSLATED REGIONS; ADULT; AGED; ALPHA-SYNUCLEIN; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LEWY BODIES; MALE; MIDDLE AGED; MUTATION; PARKINSONIAN DISORDERS; STATISTICS, NONPARAMETRIC;

EID: 84862583009     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6209-4     Document Type: Article

References (38)

1. Al-Chalabi A, Durr A, Wood NW, Parkinson MH, Camuzat A, Hulot JS, Morrison KE, Renton A, Sussmuth SD, Landwehrmeyer BG, Ludolph A, Agid Y, Brice A, Leigh PN, Bensimon G, Grp NGS (2009) Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One 4:e7114
2. Barbour R, Kling K, Anderson JP, Banducci K, Cole T, Diep L, Fox M, Goldstein JM, Soriano F, Seubert P, Chilcote TJ (2008) Red blood cells are the major source of alpha-synuclein in blood. Neurodegener Dis 5:55-59
3. Borghi R, Marchese R, Negro A, Marinelli L, Forloni G, Zaccheo D, Abbruzzese G, Tabaton M (2000) Full-length alpha-synuclein is present in cerebrospinal fluid from Parkinson's disease and normal subjects. Neurosci Lett 287:65-67 (Pubitemid 30332379)
4. Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destee A (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364:1167-1169 (Pubitemid 39296604)
5. 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 (Pubitemid 34083496)
6. Chiba-Falek O, Touchman JW, Nussbaum RL (2003) Functional analysis of intra-allelic variation at NACP-Rep1 in the alphasynuclein gene. Hum Genet 113:426-431 (Pubitemid 37270557)
7. Cookson MR (2005) The biochemistry of Parkinson's disease. Annu Rev Biochem 74:29-52 (Pubitemid 40995500)
8. Duran R, Barrero FJ, Morales B, Luna JD, Ramirez M, Vives F (2010) Plasma alpha-synuclein in patients with Parkinson's disease with and without treatment. Mov Disord 25:489-493
9. Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang LY, Zuchner S, Konidari I, Wang GF, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER (2010) Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 74:97-109
10. El-Agnaf OMA, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DMA, Ikeda S, Cookson MR, Hardy J, Allsop D (2003) Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J 17:1945-1947
11. El-Agnaf OMA, Salem SA, Paleologou KE, Curran MD, Gibson MJ, Court JA, Schlossmacher MG, Allsop D (2006) Detection of oligomeric forms of alpha-synuclein protein in human plasma as a potential biomarker for Parkinson's disease. FASEB J 20:419-425 (Pubitemid 44933318)
12. Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destee A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Kruger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilarino-Guell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ (2011) Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 69:778-792
13. Fuchs J, Tichopad A, Golub Y, Munz M, Schweitzer KJ, Wolf B, Berg D, Mueller JC, Gasser T (2008) Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J 22:1327-1334 (Pubitemid 351656774)
14. 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
15. Hoehn MM, Yahr MD (1967) Parkinsonism-onset progression and mortality. Neurology 17:427-442
16. Hong Z, Shi M, Chung KA, Quinn JF, Peskind ER, Galasko D, Jankovic J, Zabetian CP, Leverenz JB, Baird G, Montine TJ, Hancock AM, Hwang H, Pan C, Bradner J, Kang UJ, Jensen PH, Zhang J (2010) DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease. Brain 133:713-726
17. Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical-diagnosis of idiopathic Parkinson's disease-a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181-184
18. Izumi Y, Morino H, Oda M, Maruyama H, Udaka F, Kameyama M, Nakamura S, Kawakami H (2001) Genetic studies inParkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan. Neurosci Lett 300:125-127 (Pubitemid 32162940)
19. Kasuga K, Tokutake T, Ishikawa A, Uchiyama T, Tokuda T, Onodera O, Nishizawa M, Ikeuchi T (2010) Differential levels of alpha-synuclein, beta-amyloid42 and tau in CSF between patients with dementia with Lewy bodies and Alzheimer's disease. J Neurol Neurosurg Psychiatry 81:608-610
20. Kruger R, Vieira-Saecker AMM, 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 alphasynuclein/apolipoprotein E genotype. Ann Neurol 45:611-617 (Pubitemid 29217589)
21. Lee PH, Lee G, Park HJ, Bang OY, Joo IS, Huh K (2006) The plasma alpha-synuclein levels in patients with Parkinson's disease and multiple system atrophy. J Neural Transm 113:1435-1439 (Pubitemid 44435881)
22. Li QX, Mok SS, Laughton KM, McLean CA, Cappai R, Masters CL, Culvenor JG, Horne MK (2007) Plasma alpha-synuclein is decreased in subjects with Parkinson's disease. Exp Neurol 204:583-588 (Pubitemid 46497045)
23. 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, Consortium G-P (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296: 661-670 (Pubitemid 44200637)
24. Mata IF, Shi M, Agarwal P, Chung KA, Edwards KL, Factor SA, Galasko DR, Ginghina C, Griffith A, Higgins DS, Kay DM, Kim H, Leverenz JB, Quinn JF, Roberts JW, Samii A, Snapinn KW, Tsuang DW, Yearout D, Zhang J, Payami H, Zabetian CP (2010) SNCA variant associated with Parkinson disease and plasma alpha-synuclein level. Arch Neurol 67:1350-1356
25. 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
26. Mollenhauer B, Cullen V, Kahn I, Krastins B, Outeiro TF, Pepivani I, Ng J, Schulz-Schaeffer W, Kretzschmar HA, McLean PJ, Trenkwalder C, Sarracino DA, VonSattel JP, Locascio JJ, El-Agnaf OMA, Schlossmacher MG (2008) Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol 213:315-325
27. Mollenhauer B, Locascio JJ, Schulz-Schaeffer W, Sixel-Doring F, Trenkwalder C, Schlossmacher MG (2011) Alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with Parkinsonism: a cohort study. Lancet Neurol 10:297
28. Mukaetova-Ladinska EB, McKeith IG (2006) Pathophysiology of synuclein aggregation in Lewy body disease. Mech Ageing Dev 127:188-202 (Pubitemid 43165618)
29. Mukaetova-Ladinska EB, Milne J, Andras A, Abdel-All Z, Cerejeira J, Greally E, Robson J, Jaros E, Perry R, McKeith IG, Brayne C, Xuereb J, Cleghorn A, Doherty J, McIntosh G, Milton I (2008) Alpha-and gamma-synuclein proteins are present in cerebrospinal fluid and are increased in aged subjects with neurodegenerative and vascular changes. Dement Geriatr Cogn Disord 26:32-42
30. Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Farrer MJ (2008) Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta Neurol Scand 118:320-327
31. Noguchi-Shinohara M, Tokuda T, Yoshita M, Kasai T, Ono K, Nakagawa M, El-Agnaf OMA, Yamada M (2009) CSF alphasynuclein levels in dementia with Lewy bodies and Alzheimer's disease. Brain Res 1251:1-6
32. Ohrfelt A, Grognet P, Andreasen N, Wallin A, Vanmechelen E, Blennow K, Zetterberg H (2009) Cerebrospinal fluid alpha-synuclein in neurodegenerative disorders-A marker of synapse loss? Neurosci Lett 450:332-335
33. 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, DiIorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047 (Pubitemid 27443610)
34. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao JJ, Huang XM, Wood NW, Lorenz D, Deuschl G, Chen HL, Riess O, Hardy JA, Singleton AB, Gasser T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41:1308-1312
35. 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 (Pubitemid 37339619)
36. Tokuda T, Qureshi MM, Ardah MT, Varghese S, Shehab SAS, Kasai T, Ishigami N, Tamaoka A, Nakagawa M, El-Agnaf OMA (2010) Detection of elevated levels of alpha-synuclein oligomers in CSF from patients with Parkinson disease. Neurology 75:1766-1772
37. Tokuda T, Salem SA, Allsop D, Mizuno T, Nakagawa M, Qureshi MM, Locascio JJ, Schlossmacher MG, El-Agnaf OMA (2006) Decreased alpha-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease. Biochem Biophys Res Commun 349:162-166 (Pubitemid 44331776)
38. Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C (2007) Alphasynuclein and Parkinson disease susceptibility. Neurology 69:1745-1750