title: MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.
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.
authors.affiliation: Department of Pharmacology, University of Extremadura, Cáceres, Spain.
authors.forename: Angela
authors.initials: A
authors.lastname: Roco
authors.forename: Félix Javier
authors.initials: FJ
authors.lastname: Jiménez-Jiménez
authors.forename: Hortensia
authors.initials: H
authors.lastname: Alonso-Navarro
authors.forename: Carmen
authors.initials: C
authors.lastname: Martínez
authors.forename: Martín
authors.initials: M
authors.lastname: Zurdo
authors.forename: Laura
authors.initials: L
authors.lastname: Turpín-Fenoll
authors.forename: Jorge
authors.initials: J
authors.lastname: Millán
authors.forename: Teresa
authors.initials: T
authors.lastname: Adeva-Bartolomé
authors.forename: Esther
authors.initials: E
authors.lastname: Cubo
authors.forename: Francisco
authors.initials: F
authors.lastname: Navacerrada
authors.forename: Ana
authors.initials: A
authors.lastname: Rojo-Sebastián
authors.forename: Lluisa
authors.initials: L
authors.lastname: Rubio
authors.forename: Marisol
authors.initials: M
authors.lastname: Calleja
authors.forename: José Francisco
authors.initials: JF
authors.lastname: Plaza-Nieto
authors.forename: Belén
authors.initials: B
authors.lastname: Pilo-de-la-Fuente
authors.forename: Margarita
authors.initials: M
authors.lastname: Arroyo-Solera
authors.forename: Elena
authors.initials: E
authors.lastname: García-Martín
authors.forename: José A G
authors.initials: JA
authors.lastname: Agúndez
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012148:Restless Legs Syndrome / Q000235:genetics*; D012307:Risk Factors; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins