Literature DB >> 17400506

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.

Owen A Ross1, Kristoffer Haugarvoll, Jeremy T Stone, Michael G Heckman, Linda R White, Jan O Aasly, J Mark Gibson, Timothy Lynch, Zbigniew K Wszolek, Ryan J Uitti, Matthew J Farrer.   

Abstract

Parkin (PRKN) mutations are a common cause of early-onset parkinsonism, however the role of this gene in typical late-onset Parkinson's disease (PD) remains unresolved. A single nucleotide polymorphism in the promoter region (PRKN-258; rs9347683) has been observed to associate with PD, affect age-at-onset (AAO) of symptoms, and to functionally effect differential expression of the PRKN transcript. In the present study, PRKN-258 did not associate with PD, and no evidence for an AAO effect was observed in three age and gender-matched Caucasian patient-control series from Norway, Ireland and the US. These data do not support a role for this common variant in PD etiology.

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Year:  2007        PMID: 17400506      PMCID: PMC4381345          DOI: 10.1016/j.parkreldis.2007.01.010

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  16 in total

1.  Frequency of parkin mutations in late-onset Parkinson's disease.

Authors:  Christine Klein; Katja Hedrich; Claudia Wellenbrock; Martin Kann; Juliette Harris; Karen Marder; Anthony E Lang; Eberhard Schwinger; Laurie J Ozelius; Peter Vieregge; Peter P Pramstaller; Patricia L Kramer
Journal:  Ann Neurol       Date:  2003-09       Impact factor: 10.422

2.  Haploview: analysis and visualization of LD and haplotype maps.

Authors:  J C Barrett; B Fry; J Maller; M J Daly
Journal:  Bioinformatics       Date:  2004-08-05       Impact factor: 6.937

Review 3.  Parkin genetics: one model for Parkinson's disease.

Authors:  Ignacio F Mata; Paul J Lockhart; Matthew J Farrer
Journal:  Hum Mol Genet       Date:  2004-02-19       Impact factor: 6.150

Review 4.  Parkinson's disease: the genetics of a heterogeneous disorder.

Authors:  D Gosal; O A Ross; M Toft
Journal:  Eur J Neurol       Date:  2006-06       Impact factor: 6.089

5.  Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.

Authors:  T Kitada; S Asakawa; N Hattori; H Matsumine; Y Yamamura; S Minoshima; M Yokochi; Y Mizuno; N Shimizu
Journal:  Nature       Date:  1998-04-09       Impact factor: 49.962

6.  Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.

Authors:  H Shimura; N Hattori; S i Kubo; Y Mizuno; S Asakawa; S Minoshima; N Shimizu; K Iwai; T Chiba; K Tanaka; T Suzuki
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

7.  Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.

Authors:  Ignacio F Mata; Victoria Alvarez; Vanessa García-Moreira; Luis M Guisasola; René Ribacoba; Carlos Salvador; Marta Blázquez; Rogelio González Sarmiento; Carlos H Lahoz; Bernardino B Menes; Eliecer Coto García
Journal:  Neurosci Lett       Date:  2002-08-30       Impact factor: 3.046

8.  Polymorphism in the parkin gene in sporadic Parkinson's disease.

Authors:  M Wang; N Hattori; H Matsumine; T Kobayashi; H Yoshino; A Morioka; T Kitada; S Asakawa; S Minoshima; N Shimizu; Y Mizuno
Journal:  Ann Neurol       Date:  1999-05       Impact factor: 10.422

9.  Complex relationship between Parkin mutations and Parkinson disease.

Authors:  Andrew West; Magali Periquet; Sarah Lincoln; Christoph B Lücking; David Nicholl; Vincenzo Bonifati; Nina Rawal; Thomas Gasser; Ebba Lohmann; Jean-François Deleuze; Demetrius Maraganore; Allan Levey; Nick Wood; Alexandra Dürr; John Hardy; Alexis Brice; Matt Farrer
Journal:  Am J Med Genet       Date:  2002-07-08

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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  1 in total

1.  Genetic insights into sporadic Parkinson's disease pathogenesis.

Authors:  Chou Chai; Kah-Leong Lim
Journal:  Curr Genomics       Date:  2013-12       Impact factor: 2.236

  1 in total

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