SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

Parkinsonism and Related Disorders

Volumn 18, Issue 3, 2012, Pages 257-262

  Trotta, Luca ^a,b   Guella, Ilaria ^a   Soldà, Giulia ^a   Sironi, Francesca ^b   Tesei, Silvana ^c   Canesi, Margherita ^c   Pezzoli, Gianni ^c   Goldwurm, Stefano ^c   Duga, Stefano ^a   Asselta, Rosanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c PARKINSON INSTITUTE   (Italy)

Author keywords

Association study; MAPT; Parkinson disease; SNCA

Indexed keywords

AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; EPISTASIS; ETHNIC GROUP; FEMALE; GENE FUNCTION; GENE INTERACTION; GENE LOCUS; GENE PRODUCT; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MAPT GENE; MICROSATELLITE MARKER; PARKINSON DISEASE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SNCA GENE;

AGED; ALPHA-SYNUCLEIN; EPISTASIS, GENETIC; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TAU PROTEINS;

EID: 84857442897     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.10.014     Document Type: Article

References (34)

1. Lees A.J., Hardy J., Revesz T. Parkinson's disease. Lancet 2009, 373:2055-2066.
2. Lesage S., Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009, 18:R48-R59.
3. Bekris L.M., Mata I.F., Zabetian C.P. The genetics of Parkinson disease. J Geriatr Psychiatry Neurol 2010, 23:228-242.
4. Farrer M., Maraganore D.M., Lockhart P., Singleton A., Lesnick T.G., de Andrade M., et al. Alpha-synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 2001, 10:1847-1851.
5. Maraganore D.M., de Andrade M., Elbaz A., Farrer M.J., Ioannidis J.P., Krüger R., et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 2006, 296:661-670.
6. Chiba-Falek O., Nussbaum R.L. 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 2001, 10:3101-3109.
7. Cronin K.D., Ge D., Manninger P., Linnertz C., Rossoshek A., Orrison B.M., et al. Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. Hum Mol Genet 2009, 18:3274-3285.
8. Chiba-Falek O., Kowalak J.A., Smulson M.E., Nussbaum R.L. Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am J Hum Genet 2005, 76:478-492.
9. Mizuta I., Satake W., Nakabayashi Y., Ito C., Suzuki S., Momose Y., et al. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 2006, 15:1151-1158.
10. Mueller J.C., Fuchs J., Hofer A., Zimprich A., Lichtner P., Illig T., et al. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 2005, 57:535-541.
11. Pankratz N., Nichols W.C., Elsaesser V.E., Pauciulo M.W., Marek D.K., Halter C.A., et al. Alpha-synuclein and familial Parkinson's disease. Mov Disord 2009, 24:1125-1131.
12. Mata I.F., Shi M., Agarwal P., Chung K.A., Edwards K.L., Factor S.A., et al. SNCA variant associated with Parkinson disease and plasma alpha-synuclein level. Arch Neurol 2010, 67:1350-1356.
13. Kalinderi K., Fidani L., Bostantjopoulou S. From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome. Parkinsonism Relat Disord 2009, 15:2-5.
14. Goris A., Williams-Gray C.H., Clark G.R., Foltynie T., Lewis S.J., Brown J., et al. Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann Neurol 2007, 62:145-153.
15. Tobin J.E., Latourelle J.C., Lew M.F., Klein C., Suchowersky O., Shill H.A., et al. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the genepd study. Neurology 2008, 71:28-34.
16. Zabetian C.P., Hutter C.M., Factor S.A., Nutt J.G., Higgins D.S., Griffith A., et al. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. Ann Neurol 2007, 62:137-144.
17. Refenes N., Bolbrinker J., Tagaris G., Orlacchio A., Drakoulis N., Kreutz R. Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease. BMC Neurol 2009, 9:26.
18. Satake W., Nakabayashi Y., Mizuta I., Hirota Y., Ito C., Kubo M., et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 2009, 41:1303-1307.
19. Simón-Sánchez J., Schulte C., Bras J.M., Sharma M., Gibbs J.R., Berg D., et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009, 41:1308-1312.
20. Saad M., Lesage S., Saint-Pierre A., Corvol J.C., Zelenika D., Lambert J.C., et al. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet 2011, 20:615-627.
21. Spencer C.C., Plagnol V., Strange A., Gardner M., Paisan-Ruiz C., Band G., et al. Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 2011, 20:345-353.
22. Edwards T.L., Scott W.K., Almonte C., Burt A., Powell E.H., Beecham G.W., et al. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 2010, 74:97-109.
23. Consortium IPDG Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011, 377:641-649.
24. Hughes A., Daniel S., Lees A. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001, 57:1497-1499.
25. Goldwurm S., Zini M., Di Fonzo A., De Gaspari D., Siri C., Simons E., et al. LRRK2 G2019S mutation and Parkinson's disease. A clinical, neuropsychological and neuropsychiatric study in a large italian sample. Parkinsonism Relat Disord 2006, 12:410-419.
26. Sironi F., Primignani P., Zini M., Tunesi S., Ruffmann C., Ricca S., et al. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 2008, 14:326-333.
27. Ross O.A., Gosal D., Stone J.T., Lincoln S.J., Heckman M.G., Irvine G.B., et al. Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease. Mech Ageing Dev 2007, 128:378-382.
28. Tobler A.R., Short S., Andersen M.R., Paner T.M., Briggs J.C., Lambert S.M., et al. The SNPlex genotyping system: a flexible and scalable platform for snp genotyping. J Biomol Tech 2005, 16:398-406.
29. Breslow N.E., Day N.E. Statistical methods in cancer research. The design and analysis of cohort studies 1987, vol. ii. IARC Sci Publ, p. 1-406.
30. Sham P.C., Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995, 59:97-105.
31. Gao H.M., Hong J.S. Gene-environment interactions: key to unraveling the mystery of Parkinson's disease. Prog Neurobiol 2011, 94:1-19.
32. Giasson B.I., Forman M.S., Higuchi M., Golbe L.I., Graves C.L., Kotzbauer P.T., et al. Initiation and synergistic fibrillization of tau and alpha-synuclein. Science 2003, 300:636-640.
33. Elbaz A., Ross O.A., Ioannidis J.P., Soto-Ortolaza A.I., Moisan F., Aasly J., et al. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 2011, 69:778-792.
34. McCulloch C.C., Kay D.M., Factor S.A., Samii A., Nutt J.G., Higgins D.S., et al. Exploring gene-environment interactions in Parkinson's disease. Hum Genet 2008, 123:257-265.