Artikel ; Online: MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.
Journal of neural transmission (Vienna, Austria : 1996)
2012 Band 120, Heft 3, Seite(n) 463–467
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 ... ...
| 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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| Mesh-Begriff(e) | Adult ; Female ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Restless Legs Syndrome/genetics ; Risk Factors ; tau Proteins/genetics |
| Chemische Substanzen | MAPT protein, human ; tau Proteins |
| Sprache | Englisch |
| Erscheinungsdatum | 2012-09-22 |
| Erscheinungsland | Austria |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 184163-4 |
| ISSN | 1435-1463 ; 0300-9564 |
| ISSN (online) | 1435-1463 |
| ISSN | 0300-9564 |
| DOI | 10.1007/s00702-012-0897-5 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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