Metabolic syndrome (MetS) is the commonly observed clustering of obesity, hypertension, dyslipidemia, and insulin resistance. The components of MetS occur together more often than expected by chance and display significant heritability. Investigations into monogenic diseases that model features of the common MetS have uncovered responsible genes. Genome-wide association studies (GWAS) of the components of the MetS have been enormously successful. Meta-analysis of public GWAS data and risk-score analysis are revealing the role of common single-nucleotide polymorphism genotypes in MetS pathophysiology. A pleotropic polygenic architecture underlies MetS, making it a fascinating complex trait. Research will continue to uncover how metabolic pathways interact to form the MetS and its subsequent risk for atherosclerosis and diabetes.
Authors
Lanktree MB; Hegele RA
Book title
Genomic and Precision Medicine Cardiovascular Disease Third Edition