Literature DB >> 23001634

MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.

Angela Roco1, Félix Javier Jiménez-Jiménez, Hortensia Alonso-Navarro, Carmen Martínez, Martín Zurdo, Laura Turpín-Fenoll, Jorge Millán, Teresa Adeva-Bartolomé, Esther Cubo, Francisco Navacerrada, Ana Rojo-Sebastián, Lluisa Rubio, Marisol Calleja, José Francisco Plaza-Nieto, Belén Pilo-de-la-Fuente, Margarita Arroyo-Solera, Elena García-Martín, José A G Agúndez.   

Abstract

Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson's disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS.

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Year:  2012        PMID: 23001634     DOI: 10.1007/s00702-012-0897-5

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN: 0300-9564            Impact factor:   3.575


  40 in total

1.  Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

Authors:  Anastasia Levchenko; Jacques-Yves Montplaisir; Géraldine Asselin; Sylvie Provost; Simon L Girard; Lan Xiong; Emmanuelle Lemyre; Judith St-Onge; Pascale Thibodeau; Alex Desautels; Gustavo Turecki; Claudia Gaspar; Marie-Pierre Dubé; Guy A Rouleau
Journal:  Mov Disord       Date:  2009-01-15       Impact factor: 10.338

2.  Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.

Authors:  Mario Ezquerra; Pau Pastor; Carles Gaig; Jose M Vidal-Taboada; Carlos Cruchaga; Esteban Muñoz; Maria-Jose Martí; Francesc Valldeoriola; Miquel Aguilar; Matilde Calopa; Jorge Hernandez-Vara; Eduardo Tolosa
Journal:  Neurobiol Aging       Date:  2009-10-29       Impact factor: 4.673

3.  Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.

Authors:  E C Schulte; F Knauf; D Kemlink; B Schormair; P Lichtner; C Gieger; T Meitinger; J Winkelmann
Journal:  Neurology       Date:  2011-03-22       Impact factor: 9.910

4.  MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy.

Authors:  C Vilariño-Güell; A I Soto-Ortolaza; A Rajput; D C Mash; S Papapetropoulos; R Pahwa; K E Lyons; R J Uitti; Z K Wszolek; D W Dickson; M J Farrer; O A Ross
Journal:  Neurology       Date:  2011-02-15       Impact factor: 9.910

5.  Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.

Authors:  Irene Pichler; Fabio Marroni; Claudia Beu Volpato; James F Gusella; Christine Klein; Giorgio Casari; Alessandro De Grandi; Peter P Pramstaller
Journal:  Am J Hum Genet       Date:  2006-08-14       Impact factor: 11.025

6.  SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study.

Authors:  C Wider; C Vilariño-Güell; M G Heckman; B Jasinska-Myga; A I Ortolaza-Soto; N N Diehl; J E Crook; S A Cobb; J A Bacon; J O Aasly; J M Gibson; T Lynch; R J Uitti; Z K Wszolek; M J Farrer; O A Ross
Journal:  Eur J Neurol       Date:  2010-12-15       Impact factor: 6.089

7.  Drug-induced restless legs syndrome.

Authors: 
Journal:  Prescrire Int       Date:  2010-08

8.  Replication of restless legs syndrome loci in three European populations.

Authors:  D Kemlink; O Polo; B Frauscher; V Gschliesser; B Högl; W Poewe; P Vodicka; J Vavrova; K Sonka; S Nevsimalova; B Schormair; P Lichtner; K Silander; L Peltonen; C Gieger; H E Wichmann; A Zimprich; D Roeske; B Müller-Myhsok; T Meitinger; J Winkelmann
Journal:  J Med Genet       Date:  2009-03-10       Impact factor: 6.318

Review 9.  Restless legs syndrome and PD: a review of the evidence for a possible association.

Authors:  Diego Garcia-Borreguero; Per Odin; Carolina Serrano
Journal:  Neurology       Date:  2003-09-23       Impact factor: 9.910

10.  H1-MAPT and the risk for familial essential tremor.

Authors:  Elena García-Martín; Carmen Martínez; Hortensia Alonso-Navarro; Julián Benito-León; Oswaldo Lorenzo-Betancor; Pau Pastor; Tomás López-Alburquerque; Lluis Samaranch; Elena Lorenzo; José A G Agúndez; Félix Javier Jiménez-Jiménez
Journal:  PLoS One       Date:  2012-07-23       Impact factor: 3.240

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  6 in total

1.  Genetic markers of Restless Legs Syndrome in Parkinson disease.

Authors:  Ziv Gan-Or; Roy N Alcalay; Anat Bar-Shira; Claire S Leblond; Ronald B Postuma; Shay Ben-Shachar; Cheryl Waters; Amelie Johnson; Oren Levy; Anat Mirelman; Mali Gana-Weisz; Nicolas Dupré; Jacques Montplaisir; Nir Giladi; Stanley Fahn; Lan Xiong; Patrick A Dion; Avi Orr-Urtreger; Guy A Rouleau
Journal:  Parkinsonism Relat Disord       Date:  2015-03-17       Impact factor: 4.891

2.  Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry.

Authors:  Barbara Schormair; Chen Zhao; Aaro V Salminen; Konrad Oexle; Juliane Winkelmann
Journal:  Sleep       Date:  2022-08-11       Impact factor: 6.313

3.  Neuronal nitric oxide synthase (nNOS, NOS1) rs693534 and rs7977109 variants and risk for restless legs syndrome.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán-Pascual; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-de-la-Fuente; Margarita Arroyo-Solera; Esteban García-Albea; Elena García-Martín; José A G Agúndez
Journal:  J Neural Transm (Vienna)       Date:  2014-10-10       Impact factor: 3.575

4.  Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome.

Authors:  Félix Javier Jiménez-Jiménez; Blanca G Agúndez; Javier Gómez-Tabales; Hortensia Alonso-Navarro; Laura Turpín-Fenoll; Jorge Millán-Pascual; Mónica Díez-Fairén; Ignacio Álvarez; Pau Pastor; Marisol Calleja; Rafael García-Ruiz; Santiago Navarro-Muñoz; Marta Recio-Bermejo; José Francisco Plaza-Nieto; Esteban García-Albea; Elena García-Martín; José A G Agúndez
Journal:  Front Pharmacol       Date:  2021-02-25       Impact factor: 5.810

5.  Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

Authors:  Elena García-Martín; Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán-Pascual; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Sara Ortega-Cubero; Pau Pastor; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-de-la-Fuente; Margarita Arroyo-Solera; Esteban García-Albea; José A G Agúndez
Journal:  Medicine (Baltimore)       Date:  2015-08       Impact factor: 1.817

6.  Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population.

Authors:  Félix Javier Jiménez-Jiménez; Elena García-Martín; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán-Pascual; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Sara Ortega-Cubero; Pau Pastor; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-De-La-Fuente; Margarita Arroyo-Solera; Esteban García-Albea; José A G Agúndez
Journal:  Medicine (Baltimore)       Date:  2015-11       Impact factor: 1.817

  6 in total

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