Title | Non-replication of association between MAPT-SNCA synergistical interaction and susceptibility to Parkinson’s disease in a southern European population | ||
Authors | Nikolaos Refenes1,2, Reinhold Kreutz2, Juliane Bolbrinker2, Georgios Tagaris3, Antonio Orlacchio4,5 and Nikolaos Drakoulis1
1. School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece 2. Institute of Clinical Pharmacology and Toxicology, Charité – Universitätsmedizin Berlin, Berlin, Germany 3. Department of Neurology, G. Gennimatas General Hospital, Athens, Greece 4. Laboratory of Neurogenetics, CERC-IRCCS Santa Lucia, Rome, Italy 5. Department of Neuroscience, Università di Roma Tor Vergata, Rome, Italy |
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Citation | Refenes, N., Kreutz, R., Bolbrinker, J., Tagaris, G., Orlacchio, A. et al.: Non-replication of association between MAPT-SNCA synergistical interaction and susceptibility to Parkinson’s disease in a southern European population, Epitheorese Klin. Farmakol. Farmakokinet. 24(2): 205-207 (2010) | ||
Publication Date | 2010 | ||
Full Text Language | English | ||
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Keywords | Parkinson’s disease, MAPT, SNCA, a-synuclein, case-control study. | ||
Other Terms | Review article | ||
Summary | The combination of MAPT H1H1 genotype and SNCA (rs356219) GG genotype interaction has recently been identified as a possible factor to approximately double the risk for development of PD. The objective of our study was to test the association of the interaction of these two genetic variants with Parkinson’s disease in a southern European case-control study. We analysed MAPT haplotypes and performed SNP genotyping with Taqman assays for the SNCA rs356219 marker in cohorts of 352 patients and 417 controls of Greek and Italian origin, respectively. Cases (n=352) were more often homozygotes for the MAPT H1 haplotype than controls (n=417). However, the association of the SNCA rs356219 G allele or GG homozygotes with Parkinson’s disease was not confirmed. Furthermore the interaction of the SNCA GG genotype with MAPT H1H1 genotype was not proved to be increased among cases with Parkinson’s disease compared to the controls. The data suggest that increase of PD risk by this specific combination of genotypes is not reproducible to all PD populations. | ||
References |
1. Forno L.S.: Neuropathology of Parkinson’s disease. J. Neuropathol. Exp. Neurol. 55: 259-272 (1996) 2. Volles M.J., Lansbury P.T., Jr.: Zeroing in on the pathogenic form of alpha-synuclein and its mechanism of neurotoxicity in Parkinson’s disease. Biochemistry 42: 7871-7878 (2003) 3. Goris A., Williams-Gray C.H., Clark G.R., et al: Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson’s disease. Ann. Neurol. 62: 145-153 (2007) 4. Jensen P.H., Hager H., Nielsen M.S., et al.: 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. 5. Giasson BI, Forman MS, Higuchi M, et al: Initiation and synergistic fibrillization of tau and alpha-synuclein. Science 300: 636-640 (2003) 6. Higuchi M., Lee V.M., Trojanowski J.Q.: Tau and axonopathy in neurodegenerative disorders. Neuromolecular Med. 2: 131-150 (2002) 7. Hughes A.J., Daniel S.E., Lees A.J.: Improved accuracy of clinical diagnosis of Lewy body Parkinson´s disease. Neurology 57:1497-1499 (2001) 8. Goetz C.G., Fahn S., Martinez-Martin P., et al: Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan. Mov. Disord. 22: 41-47 (2007) 9. Baker M., Litvan I., Houlden H., et al: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 8: 711-715 (1999) 10. 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. 9: 26 (2009) 11. Winkler S., Konig I.R., Lohmann-Hedrich K., et al: Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson’s disease. Eur. J. Hum. Genet. 15: 1163-1168 (2007) |
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Online ISSN 1011-6575
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Articles published in this Journal are Indexed or Abstracted in: • Chemical Abstracts • Elsevier’s Bibliographic Databases: Scopus, EMBASE, EMBiology, Elsevier BIOBASE SCImago Journal and Country Rank Factor
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