Literature DB >> 24578302

Alpha-synuclein repeat variants and survival in Parkinson's disease.

Sun Ju Chung1, Joanna M Biernacka, Sebastian M Armasu, Kari Anderson, Roberta Frigerio, Jan O Aasly, Grazia Annesi, Anna Rita Bentivoglio, Laura Brighina, Marie-Christine Chartier-Harlin, Stefano Goldwurm, Georgios Hadjigeorgiou, Barbara Jasinska-Myga, Beom Seok Jeon, Yun Joong Kim, Rejko Krüger, Suzanne Lesage, Katerina Markopoulou, George Mellick, Karen E Morrison, Andreas Puschmann, Eng-King Tan, David Crosiers, Jessie Theuns, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew K Wszolek, Alexis Elbaz, Demetrius M Maraganore.   

Abstract

OBJECTIVES: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD).
METHODS: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium provided REP1 genotypes and baseline and follow-up clinical data for cases. The primary outcome was time to death. Cox proportional hazards regression models were used to assess the association of REP1 genotypes with survival.
RESULTS: Twenty-one sites contributed data for 6,154 cases. There was no significant association between α-synuclein REP1 genotypes and survival in PD. However, there was a significant association between REP1 genotypes and age at onset of PD (hazard ratio: 1.06; 95% confidence interval: 1.01-1.10; P value = 0.01).
CONCLUSIONS: In our large consortium study, α-synuclein REP1 genotypes were not associated with survival in PD. Further studies of α-synuclein's role in disease progression and long-term outcomes are needed.
© 2014 International Parkinson and Movement Disorder Society.

Entities:  

Keywords:  Parkinson's disease; association; gene; survival; α-synuclein

Mesh:

Substances:

Year:  2014        PMID: 24578302      PMCID: PMC4172351          DOI: 10.1002/mds.25841

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  24 in total

1.  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

2.  Hereditary form of parkinsonism--dementia.

Authors:  M D Muenter; L S Forno; O Hornykiewicz; S J Kish; D M Maraganore; R J Caselli; H Okazaki; F M Howard; B J Snow; D B Calne
Journal:  Ann Neurol       Date:  1998-06       Impact factor: 10.422

3.  Common variants in PARK loci and related genes and Parkinson's disease.

Authors:  Sun Ju Chung; Sebastian M Armasu; Joanna M Biernacka; Timothy G Lesnick; David N Rider; Sarah J Lincoln; Alexandra I Ortolaza; Matthew J Farrer; Julie M Cunningham; Walter A Rocca; Demetrius M Maraganore
Journal:  Mov Disord       Date:  2010-12-13       Impact factor: 10.338

4.  Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.

Authors:  R Krüger; W Kuhn; T Müller; D Woitalla; M Graeber; S Kösel; H Przuntek; J T Epplen; L Schöls; O Riess
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

5.  Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.

Authors:  Demetrius M Maraganore; Mariza de Andrade; Alexis Elbaz; Matthew J Farrer; John P Ioannidis; Rejko Krüger; Walter A Rocca; Nicole K Schneider; Timothy G Lesnick; Sarah J Lincoln; Mary M Hulihan; Jan O Aasly; Tetsuo Ashizawa; Marie-Christine Chartier-Harlin; Harvey Checkoway; Carlo Ferrarese; Georgios Hadjigeorgiou; Nobutaka Hattori; Hideshi Kawakami; Jean-Charles Lambert; Timothy Lynch; George D Mellick; Spiridon Papapetropoulos; Abbas Parsian; Aldo Quattrone; Olaf Riess; Eng-King Tan; Christine Van Broeckhoven
Journal:  JAMA       Date:  2006-08-09       Impact factor: 56.272

6.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

Authors:  M H Polymeropoulos; C Lavedan; E Leroy; S E Ide; A Dehejia; A Dutra; B Pike; H Root; J Rubenstein; R Boyer; E S Stenroos; S Chandrasekharappa; A Athanassiadou; T Papapetropoulos; W G Johnson; A M Lazzarini; R C Duvoisin; G Di Iorio; L I Golbe; R L Nussbaum
Journal:  Science       Date:  1997-06-27       Impact factor: 47.728

7.  Joint analysis of the NACP-REP1 marker within the alpha synuclein gene concludes association with alcohol dependence.

Authors:  D Bönsch; T Lederer; U Reulbach; T Hothorn; J Kornhuber; S Bleich
Journal:  Hum Mol Genet       Date:  2005-02-24       Impact factor: 6.150

8.  Genomic determinants of motor and cognitive outcomes in Parkinson's disease.

Authors:  Sun Ju Chung; Sebastian M Armasu; Joanna M Biernacka; Kari J Anderson; Timothy G Lesnick; David N Rider; Julie M Cunningham; J Eric Ahlskog; Roberta Frigerio; Demetrius M Maraganore
Journal:  Parkinsonism Relat Disord       Date:  2012-05-30       Impact factor: 4.891

9.  Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.

Authors:  Matt Farrer; Jennifer Kachergus; Lysia Forno; Sarah Lincoln; Deng-Shun Wang; Mary Hulihan; Demetrius Maraganore; Katrina Gwinn-Hardy; Zbigniew Wszolek; Dennis Dickson; J William Langston
Journal:  Ann Neurol       Date:  2004-02       Impact factor: 10.422

10.  Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.

Authors:  Ornit Chiba-Falek; Jeffrey W Touchman; Robert L Nussbaum
Journal:  Hum Genet       Date:  2003-08-16       Impact factor: 4.132

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Journal:  Biomed Res Int       Date:  2015-04-15       Impact factor: 3.411

2.  The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.

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Journal:  Front Neurol       Date:  2018-03-29       Impact factor: 4.003

3.  Modelling idiopathic Parkinson disease as a complex illness can inform incidence rate in healthy adults: the PR EDIGT score.

Authors:  Michael G Schlossmacher; Julianna J Tomlinson; Goncalo Santos; Bojan Shutinoski; Earl G Brown; Douglas Manuel; Tiago Mestre
Journal:  Eur J Neurosci       Date:  2016-12-27       Impact factor: 3.386

Review 4.  A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson's disease.

Authors:  Camilla Christina Pedersen; Johannes Lange; Marthe Gurine Gunnarsdatter Førland; Angus D Macleod; Guido Alves; Jodi Maple-Grødem
Journal:  NPJ Parkinsons Dis       Date:  2021-07-01
  4 in total

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