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Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27.

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.

Author information

1
Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg 85764, Germany.

Abstract

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.

PMID:
18660810
DOI:
10.1038/ng.190
[Indexed for MEDLINE]

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