PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
18660810
DOI
10.1038/ng.190
PII: ng.190
Knihovny.cz E-resources
- MeSH
- 5' Untranslated Regions genetics MeSH
- Genetic Predisposition to Disease * MeSH
- Polymorphism, Single Nucleotide * MeSH
- Humans MeSH
- Case-Control Studies MeSH
- Restless Legs Syndrome genetics MeSH
- Receptor-Like Protein Tyrosine Phosphatases, Class 2 genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Canada MeSH
- Germany MeSH
- Austria MeSH
- Names of Substances
- 5' Untranslated Regions MeSH
- PTPRD protein, human MeSH Browser
- Receptor-Like Protein Tyrosine Phosphatases, Class 2 MeSH
We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4626664, P(nominal/lambda corrected) = 5.91 x 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) = 5.81 x 10(-9), OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.
References provided by Crossref.org
RefSeq
NM_002839
