Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome
Singh R, Smith E, Fathzadeh M, Liu W, Go G, Subrahmanyan L, Faramarzi S, McKenna W, Mani A. Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome. Human Mutation 2013, 34: 1221-1225. PMID: 23703864, PMCID: PMC3745535, DOI: 10.1002/humu.22360.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCoronary DiseaseEuropeFemaleGenetic Predisposition to DiseaseGenetic VariationGlycosylationHumansLow Density Lipoprotein Receptor-Related Protein-6MaleMetabolic SyndromeMiddle AgedMutationPedigreePhylogenySequence AlignmentUnited StatesWnt ProteinsYoung AdultConceptsCoronary artery diseaseMetabolic syndromeLRP6 mutationFamilial coronary artery diseaseArtery diseaseDisease populationSyndromeConserved glycosylation siteNovel mutationsFunction mutationsPropeller domainRare mutationsEuropean controlsLRP6MutationsCritical roleMetabolic traitsWhite AmericansPrevalenceDisease