Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome

摘要: A rare mutation in LRP6 has been shown to underlie autosomal dominant coronary artery disease (CAD) and metabolic syndrome an Iranian kindred. The prevalence spectrum of mutations the population United States is not known. Two hundred white Americans with early onset familial CAD 2,000 healthy Northern European controls were screened for nonconservative LRP6. Three novel identified, which cosegregated traits kindreds affected subjects none controls. All three reside second propeller domain, plays a critical role ligand binding. substituted highly conserved arginines YWTD domain third glycosylation site. functional characterization one variants showed that it impairs Wnt signaling acts as loss function mutation.