Genetics of Insulin Resistance and the Metabolic Syndrome.
Insulin resistance and the metabolic syndrome are complex metabolic traits and key risk factors for the development of cardiovascular disease. They result from the interplay of environmental and genetic factors but the full extent of the genetic background to these conditions remains incomplete. Large-scale genome-wide association studies have helped advance the identification of common genetic variation associated with insulin resistance and the metabolic syndrome, and more recently, exome sequencing has allowed the identification of rare variants associated with the pathogenesis of these conditions. Many variants associated with insulin resistance are directly involved in glucose metabolism; however, functional studies are required to assess the contribution of other variants to the development of insulin resistance. Many genetic variants involved in the pathogenesis of the metabolic syndrome are associated with lipid metabolism.
Institute of Cellular Medicine, William Leech Building, Medical School, Newcastle University, Newcastle, NE2 4HH, UK.
Audrey E
AE
Brown
Institute of Cellular Medicine, William Leech Building, Medical School, Newcastle University, Newcastle, NE2 4HH, UK. mark.walker@ncl.ac.uk.
Mark
M
Walker
D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D050356:Lipid Metabolism / Q000235:genetics; D024821:Metabolic Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
Common genetic variation; Genetic risk score; Insulin resistance; Metabolic syndrome; Rare variants