Literature DB >> 17531291

Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.

Owen A Ross1, David Gosal, Jeremy T Stone, Sarah J Lincoln, Michael G Heckman, G Brent Irvine, Janet A Johnston, J Mark Gibson, Matthew J Farrer, Timothy Lynch.   

Abstract

Genetic variation of the alpha-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson's disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37-0.84) and the 3'UTR of the gene (rs356165; OR: 1.67, 95% CI: 1.08-2.58). Given previous reports of association a collaborative effort is required which may exploit global linkage disequilibrium patterns for SNCA and standardise polymorphic markers used in each population. It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD.

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Year:  2007        PMID: 17531291      PMCID: PMC2970620          DOI: 10.1016/j.mad.2007.04.002

Source DB:  PubMed          Journal:  Mech Ageing Dev        ISSN: 0047-6374            Impact factor:   5.432


  19 in total

1.  Score tests for association between traits and haplotypes when linkage phase is ambiguous.

Authors:  Daniel J Schaid; Charles M Rowland; David E Tines; Robert M Jacobson; Gregory A Poland
Journal:  Am J Hum Genet       Date:  2001-12-27       Impact factor: 11.025

2.  The International HapMap Project.

Authors: 
Journal:  Nature       Date:  2003-12-18       Impact factor: 49.962

3.  Identification of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN.

Authors:  Domènec Farré; Romà Roset; Mario Huerta; José E Adsuara; Llorenç Roselló; M Mar Albà; Xavier Messeguer
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

4.  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

5.  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

6.  alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

Authors:  Philippe Pals; Sarah Lincoln; Jonathan Manning; Michael Heckman; Lisa Skipper; Mary Hulihan; Marleen Van den Broeck; Tim De Pooter; Patrick Cras; Julia Crook; Christine Van Broeckhoven; Matt J Farrer
Journal:  Ann Neurol       Date:  2004-10       Impact factor: 10.422

7.  Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

Authors:  Marie-Christine Chartier-Harlin; Jennifer Kachergus; Christophe Roumier; Vincent Mouroux; Xavier Douay; Sarah Lincoln; Clotilde Levecque; Lydie Larvor; Joris Andrieux; Mary Hulihan; Nawal Waucquier; Luc Defebvre; Philippe Amouyel; Matthew Farrer; Alain Destée
Journal:  Lancet       Date:  2004 Sep 25-Oct 1       Impact factor: 79.321

8.  Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

Authors:  P Ibáñez; A-M Bonnet; B Débarges; E Lohmann; F Tison; P Pollak; Y Agid; A Dürr; A Brice
Journal:  Lancet       Date:  2004 Sep 25-Oct 1       Impact factor: 79.321

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

Review 10.  Diagnostic criteria for Parkinson disease.

Authors:  D J Gelb; E Oliver; S Gilman
Journal:  Arch Neurol       Date:  1999-01
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  30 in total

1.  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

2.  Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study.

Authors:  Melissa E Murray; Neill R Graff-Radford; Owen A Ross; Ronald C Petersen; Ranjan Duara; Dennis W Dickson
Journal:  Lancet Neurol       Date:  2011-07-27       Impact factor: 44.182

3.  Genetic variability in CLU and its association with Alzheimer's disease.

Authors:  Rita J Guerreiro; John Beck; J Raphael Gibbs; Isabel Santana; Martin N Rossor; Jonathan M Schott; Michael A Nalls; Helena Ribeiro; Beatriz Santiago; Nick C Fox; Catarina Oliveira; John Collinge; Simon Mead; Andrew Singleton; John Hardy
Journal:  PLoS One       Date:  2010-03-03       Impact factor: 3.240

Review 4.  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

5.  Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.

Authors:  Shinsuke Fujioka; Christina Sundal; Audrey J Strongosky; Monica Case Castanedes; Rosa Rademakers; Owen A Ross; Carles Vilariño-Güell; Matthew J Farrer; Zbigniew K Wszolek; Dennis W Dickson
Journal:  Acta Neuropathol       Date:  2012-11-04       Impact factor: 17.088

6.  The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.

Authors:  William K Gottschalk; Michael W Lutz; Yu Ting He; Ann M Saunders; Daniel K Burns; Allen D Roses; Ornit Chiba-Falek
Journal:  J Parkinsons Dis Alzheimers Dis       Date:  2014-11

7.  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

8.  Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies.

Authors:  Lidia Tagliafierro; Omolara-Chinue Glenn; Madison E Zamora; Thomas G Beach; Randy L Woltjer; Michael W Lutz; Ornit Chiba-Falek
Journal:  Alzheimers Dement       Date:  2017-04-18       Impact factor: 21.566

9.  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

10.  Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Authors:  Michael G Heckman; Alexis Elbaz; Alexandra I Soto-Ortolaza; Daniel J Serie; Jan O Aasly; Grazia Annesi; Georg Auburger; Justin A Bacon; Magdalena Boczarska-Jedynak; Maria Bozi; Laura Brighina; Marie-Christine Chartier-Harlin; Efthimios Dardiotis; Alain Destée; Carlo Ferrarese; Alessandro Ferraris; Brian Fiske; Suzana Gispert; Georgios M Hadjigeorgiou; Nobutaka Hattori; John P A Ioannidis; Barbara Jasinska-Myga; Beom S Jeon; Yun Joong Kim; Christine Klein; Rejko Kruger; Elli Kyratzi; Chin-Hsien Lin; Katja Lohmann; Marie-Anne Loriot; Timothy Lynch; George D Mellick; Eugénie Mutez; Grzegorz Opala; Sung Sup Park; Simona Petrucci; Aldo Quattrone; Manu Sharma; Peter A Silburn; Young Ho Sohn; Leonidas Stefanis; Vera Tadic; Hiroyuki Tomiyama; Ryan J Uitti; Enza Maria Valente; Demetrios K Vassilatis; Carles Vilariño-Güell; Linda R White; Karin Wirdefeldt; Zbigniew K Wszolek; Ruey-Meei Wu; Georgia Xiromerisiou; Demetrius M Maraganore; Matthew J Farrer; Owen A Ross
Journal:  Neurobiol Aging       Date:  2013-08-17       Impact factor: 4.673

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