title: Genetics of metabolic syndrome: is there a role for phenomics?
abstract: Metabolic syndrome (MetS) is a common complex trait consisting of the clustering of abdominal obesity, hypertension, dyslipidemia, and dysglycemia. MetS is found in about 25% of the population in the United States and is associated with increased risk for type 2 diabetes and cardiovascular disease. Despite research into possible genetic influences for MetS, no consistently reproducible genetic markers have been obtained, partially due to lack of agreement on the definition of the phenotype. Because phenotypic precision is essential for genomic interrogation, the evolving discipline of clinical phenomics, which uses objective and systematic acquisition of phenotypic data (ie, "deep phenotyping"), may help evaluate the genetic influences of MetS. This article reviews evidence that MetS has a genetic component and the potential applicability of clinical phenomics for the genetic evaluation of MetS using the example of hierarchical cluster analysis of phenotypic components of lipodystrophy syndromes, which serve as monogenic models of MetS.
authors.affiliation: Robarts Research Institute, 406 - 100 Perth Drive, London, Ontario, N6A 5K8, Canada.
authors.forename: Tisha
authors.initials: T
authors.lastname: Joy
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D016000:Cluster Analysis; D019295:Computational Biology / Q000379:methods*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods*; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D052496:Lipodystrophy, Familial Partial / Q000235:genetics; D024821:Metabolic Syndrome / Q000175:diagnosis / Q000235:genetics*; D020412:Multifactorial Inheritance; D047495:PPAR gamma / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers; C494847:LMNA protein, human; D034904:Lamin Type A; D047495:PPAR gamma