Literature DB >> 19475667

SNCA variants are associated with increased risk for multiple system atrophy.

Sonja W Scholz1, Henry Houlden, Claudia Schulte, Manu Sharma, Abi Li, Daniela Berg, Anna Melchers, Reema Paudel, J Raphael Gibbs, Javier Simon-Sanchez, Coro Paisan-Ruiz, Jose Bras, Jinhui Ding, Honglei Chen, Bryan J Traynor, Sampath Arepalli, Ryan R Zonozi, Tamas Revesz, Janice Holton, Nick Wood, Andrew Lees, Wolfgang Oertel, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Thomas Illig, Olaf Riess, Hubert H Fernandez, Ramon L Rodriguez, Michael S Okun, Werner Poewe, Gregor K Wenning, John A Hardy, Andrew B Singleton, Francesca Del Sorbo, Susanne Schneider, Kailash P Bhatia, Thomas Gasser.   

Abstract

To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate single nucleotide polymorphism (SNP) association study of the 384 most associated SNPs in a genome-wide association study of Parkinson's disease in 413 MSA cases and 3,974 control subjects. The 10 most significant SNPs were then replicated in additional 108 MSA cases and 537 controls. SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected].

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Year:  2009        PMID: 19475667      PMCID: PMC3520128          DOI: 10.1002/ana.21685

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  19 in total

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Authors:  T Ozawa; K Okuizumi; T Ikeuchi; K Wakabayashi; H Takahashi; S Tsuji
Journal:  Acta Neuropathol       Date:  2001-08       Impact factor: 17.088

2.  alpha-Synuclein locus triplication causes Parkinson's disease.

Authors:  A B Singleton; M Farrer; J Johnson; A Singleton; S Hague; J Kachergus; M Hulihan; T Peuralinna; A Dutra; R Nussbaum; S Lincoln; A Crawley; M Hanson; D Maraganore; C Adler; M R Cookson; M Muenter; M Baptista; D Miller; J Blancato; J Hardy; K Gwinn-Hardy
Journal:  Science       Date:  2003-10-31       Impact factor: 47.728

Review 3.  The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases.

Authors:  Andrew Singleton; Amanda Myers; John Hardy
Journal:  Hum Mol Genet       Date:  2004-02-19       Impact factor: 6.150

4.  Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Authors:  J Fuchs; C Nilsson; J Kachergus; M Munz; E-M Larsson; B Schüle; J W Langston; F A Middleton; O A Ross; M Hulihan; T Gasser; M J Farrer
Journal:  Neurology       Date:  2007-01-24       Impact factor: 9.910

5.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

Review 6.  Consensus statement on the diagnosis of multiple system atrophy. American Autonomic Society and American Academy of Neurology.

Authors:  S Gilman; P Low; N Quinn; A Albanese; Y Ben-Shlomo; C Fowler; H Kaufmann; T Klockgether; A Lang; P Lantos; I Litvan; C Mathias; E Oliver; D Robertson; I Schatz; G Wenning
Journal:  Clin Auton Res       Date:  1998-12       Impact factor: 4.435

7.  Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy.

Authors:  Sarah J Lincoln; Owen A Ross; Nicole M Milkovic; Dennis W Dickson; Alex Rajput; Christopher A Robinson; Spiridon Papapetropoulos; Deborah C Mash; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2007-02-08       Impact factor: 4.891

8.  Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.

Authors:  K Gwinn-Hardy; N D Mehta; M Farrer; D Maraganore; M Muenter; S H Yen; J Hardy; D W Dickson
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9.  Probable multiple system atrophy in a German family.

Authors:  U Wüllner; M Abele; T Schmitz-Huebsch; K Wilhelm; R Benecke; G Deuschl; T Klockgether
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-06       Impact factor: 10.154

10.  Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation.

Authors:  L E Nee; M R Gomez; J Dambrosia; S Bale; R Eldridge; R J Polinsky
Journal:  Clin Auton Res       Date:  1991-03       Impact factor: 4.435

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  131 in total

1.  Myeloperoxidase inhibition ameliorates multiple system atrophy-like degeneration in a transgenic mouse model.

Authors:  Nadia Stefanova; Biljana Georgievska; Håkan Eriksson; Werner Poewe; Gregor K Wenning
Journal:  Neurotox Res       Date:  2011-12-08       Impact factor: 3.911

Review 2.  Recent advances in the genetics of cerebellar ataxias.

Authors:  Anna Sailer; Henry Houlden
Journal:  Curr Neurol Neurosci Rep       Date:  2012-06       Impact factor: 5.081

3.  Reply to: SNCA variants are associated with increased risk of multiple system atrophy.

Authors:  Owen A Ross; Carles Vilariño-Güell; Zbigniew K Wszolek; Matthew J Farrer; Dennis W Dickson
Journal:  Ann Neurol       Date:  2010-03       Impact factor: 10.422

Review 4.  Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases.

Authors:  Michael G Erkkinen; Mee-Ohk Kim; Michael D Geschwind
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-04-02       Impact factor: 10.005

5.  SHC2 gene copy number in multiple system atrophy (MSA).

Authors:  Marcus C Ferguson; Emily M Garland; Lora Hedges; Bethany Womack-Nunley; Rizwan Hamid; John A Phillips; Cyndya A Shibao; Satish R Raj; Italo Biaggioni; David Robertson
Journal:  Clin Auton Res       Date:  2013-10-30       Impact factor: 4.435

Review 6.  Neurodegenerative Disease Transmission and Transgenesis in Mice.

Authors:  Brittany N Dugger; Daniel P Perl; George A Carlson
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

7.  The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.

Authors:  Jeanette J McCarthy; Colton Linnertz; Laura Saucier; James R Burke; Christine M Hulette; Kathleen A Welsh-Bohmer; Ornit Chiba-Falek
Journal:  Neurogenetics       Date:  2010-11-03       Impact factor: 2.660

8.  The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.

Authors:  Colton Linnertz; Michael W Lutz; John F Ervin; Jawara Allen; Natalie R Miller; Kathleen A Welsh-Bohmer; Allen D Roses; Ornit Chiba-Falek
Journal:  Hum Mol Genet       Date:  2014-04-28       Impact factor: 6.150

9.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

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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