Literature DB >> 19097176

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Aleksandar Rakovic1, Barbara Stiller, Ana Djarmati, Antonia Flaquer, Jan Freudenberg, Mohammad-Reza Toliat, Michael Linnebank, Vladimir Kostic, Katja Lohmann, Sebastian Paus, Peter Nürnberg, Christian Kubisch, Christine Klein, Ullrich Wüllner, Alfredo Ramirez.   

Abstract

A role of ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case-control association study in this age-of-onset group with PD. The initial sample was of German origin and consisted of 220 patients with late-onset PD (mean age of onset 60.1 years) and 232 age-matched unrelated controls. Five single nucleotide polymorphisms (SNPs) covering ATP13A2 and its common haplotypes were genotyped. The overall association results in this sample were negative. Interestingly, gender stratification gave a positive result for SNP rs11203280 (P(UNC) = 0.016) in men. This result could not be reproduced in a replication sample of German and Serbian origin composed of 161 patients with late-onset PD (mean age of onset 51.7 years) and 150 age- and ethnic-matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late-onset PD. (c) 2008 Movement Disorder Society.

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Year:  2009        PMID: 19097176     DOI: 10.1002/mds.22399

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


  5 in total

1.  Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Authors:  Alejandro Estrada-Cuzcano; Shaun Martin; Teodora Chamova; Matthis Synofzik; Dagmar Timmann; Tine Holemans; Albena Andreeva; Jennifer Reichbauer; Riet De Rycke; Dae-In Chang; Sarah van Veen; Jean Samuel; Ludger Schöls; Thorsten Pöppel; Danny Mollerup Sørensen; Bob Asselbergh; Christine Klein; Stephan Zuchner; Albena Jordanova; Peter Vangheluwe; Ivailo Tournev; Rebecca Schüle
Journal:  Brain       Date:  2017-02       Impact factor: 13.501

2.  Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

Authors:  Daniel Ysselstein; Joshua M Shulman; Dimitri Krainc
Journal:  Mov Disord       Date:  2019-02-06       Impact factor: 10.338

3.  The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.

Authors:  Anne Y Y Chan; Larry Baum; Nelson L S Tang; Christine Y K Lau; Ping Wing Ng; Kwok Fai Hui; Yoshi Mizuno; Justin Y Kwan; Vincent C T Mok; Sheng-Han Kuo
Journal:  J Clin Neurosci       Date:  2013-03-20       Impact factor: 1.961

4.  Developmental expression of P5 ATPase mRNA in the mouse.

Authors:  Lisa S Weingarten; Hardi Dave; Hongyan Li; Dorota A Crawford
Journal:  Cell Mol Biol Lett       Date:  2011-12-28       Impact factor: 5.787

Review 5.  Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Authors:  Xinglong Yang; Yanming Xu
Journal:  Biomed Res Int       Date:  2014-08-14       Impact factor: 3.411

  5 in total

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