Literature DB >> 15670652

Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease.

George D Mellick1, Demetrius M Maraganore, Peter A Silburn.   

Abstract

It remains unclear whether genetic variants in SNCA (the alpha-synuclein gene) alter risk for sporadic Parkinson's disease (PD). The polymorphic mixed sequence repeat (NACP-Rep1) in the promoter region of SNCA has been previously examined as a potential susceptibility factor for PD with conflicting results. We report genotype and allele distributions at this locus from 369 PD cases and 370 control subjects of European Australian ancestry, with alleles designated as -1, 0, +1, +2, and +3 as previously described. Allele frequencies designated (0) were less common in Australian cases compared to controls (OR=0.80, 95% CI 0.62-1.03). Combined analysis including all previously published ancestral European Rep1 data yielded a highly significant association between the 0 allele and a reduced risk for PD (OR=0.79, 95% CI 0.70-0.89, p=0.0001). Further study must now proceed to examine in detail this interesting and biologically plausible genetic association.

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Year:  2004        PMID: 15670652     DOI: 10.1016/j.neulet.2004.10.078

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  23 in total

1.  Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.

Authors:  A Afek; L Tagliafierro; O C Glenn; D B Lukatsky; R Gordan; O Chiba-Falek
Journal:  Neurogenetics       Date:  2018-05-05       Impact factor: 2.660

Review 2.  Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

Authors:  Sumeet Kumar; Navneesh Yadav; Sanjay Pandey; B K Thelma
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

Review 3.  Structural variants in SNCA gene and the implication to synucleinopathies.

Authors:  Ornit Chiba-Falek
Journal:  Curr Opin Genet Dev       Date:  2017-03-02       Impact factor: 5.578

Review 4.  Deregulation of α-synuclein in Parkinson's disease: Insight from epigenetic structure and transcriptional regulation of SNCA.

Authors:  Subhrangshu Guhathakurta; Eugene Bok; Baggio A Evangelista; Yoon-Seong Kim
Journal:  Prog Neurobiol       Date:  2017-04-23       Impact factor: 11.685

Review 5.  Genetic variability in SNCA and Parkinson's disease.

Authors:  Lasse Pihlstrøm; Mathias Toft
Journal:  Neurogenetics       Date:  2011-07-29       Impact factor: 2.660

6.  Aggregates assembled from overexpression of wild-type alpha-synuclein are not toxic to human neuronal cells.

Authors:  Li-Wen Ko; Hwai-Hwa C Ko; Wen-Lang Lin; Jayanranyan G Kulathingal; Shu-Hui C Yen
Journal:  J Neuropathol Exp Neurol       Date:  2008-11       Impact factor: 3.685

7.  Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.

Authors:  Kenneth D Cronin; Dongliang Ge; Paul Manninger; Colton Linnertz; Anna Rossoshek; Bonnie M Orrison; David J Bernard; Omar M A El-Agnaf; Michael G Schlossmacher; Robert L Nussbaum; Ornit Chiba-Falek
Journal:  Hum Mol Genet       Date:  2009-06-04       Impact factor: 6.150

8.  Serine 129 phosphorylation reduces the ability of alpha-synuclein to regulate tyrosine hydroxylase and protein phosphatase 2A in vitro and in vivo.

Authors:  Haiyan Lou; Susana E Montoya; Tshianda N M Alerte; Jian Wang; Jianjun Wu; Xiangmin Peng; Chang-Sook Hong; Emily E Friedrich; Samantha A Mader; Courtney J Pedersen; Brian S Marcus; Alison L McCormack; Donato A Di Monte; S Colette Daubner; Ruth G Perez
Journal:  J Biol Chem       Date:  2010-03-31       Impact factor: 5.157

9.  Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.

Authors:  Colton Linnertz; Laura Saucier; Dongliang Ge; Kenneth D Cronin; James R Burke; Jeffrey N Browndyke; Christine M Hulette; Kathleen A Welsh-Bohmer; Ornit Chiba-Falek
Journal:  PLoS One       Date:  2009-10-16       Impact factor: 3.240

10.  Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Authors:  Ammar Al-Chalabi; Alexandra Dürr; Nicholas W Wood; Michael H Parkinson; Agnes Camuzat; Jean-Sébastien Hulot; Karen E Morrison; Alan Renton; Sigurd D Sussmuth; Bernhard G Landwehrmeyer; Albert Ludolph; Yves Agid; Alexis Brice; P Nigel Leigh; Gilbert Bensimon
Journal:  PLoS One       Date:  2009-09-22       Impact factor: 3.240

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