Article
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
American journal of human genetics - 3 Jul 2014
Schulte Eva C, Kousi Maria, Tan Perciliz L, Tilch Erik, Knauf Franziska, Lichtner Peter, Trenkwalder Claudia, Högl Birgit, Frauscher Birgit, Berger Klaus, Fietze Ingo, Hornyak Magdolna, Oertel Wolfgang H, Bachmann Cornelius G, Zimprich Alexander, Peters Annette, Gieger Christian, Meitinger Thomas, Müller-Myhsok Bertram, Katsanis Nicholas, Winkelmann Juliane
Abstract excerpt
Restless legs syndrome (RLS) is a common neurologic condition characterized by nocturnal dysesthesias and an urge to move, affecting the legs. RLS is a complex trait, for which genome-wide association studies (GWASs) have identified common susceptibility alleles of modest (OR 1.2-1.7) risk at six genomic loci. Among these, variants in MEIS1 have emerged as the largest risk factors for RLS, suggesting that...
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