Metabolic syndrome

Abstract

Purpose of review Metabolic syndrome (MetS) is a cluster of inter-related and heritable metabolic traits, which collectively impart unsurpassed risk for atherosclerotic cardiovascular disease and type 2 diabetes. Considerable work has been done to understand the underlying disease mechanisms by elucidating its genetic etiology. Recent findings Genome-wide association studies (GWAS) have been widely utilized albeit with modest success in identifying variants that are associated with more than two metabolic traits. Another limitation of this approach is the inherent small effect of the common variants, a major barrier for dissecting their cognate pathways. Modest advances in this venue have been also made by genetic studies of kindreds at the extreme ends of quantitative distributions. These efforts have led to the discovery of a number of disease genes with large effects that underlie the association of diverse traits of this syndrome. Summary Substantial progress has been made over the last decade in identification of genetic risk factors associated with the various traits of MetS. The heterogeneity and multifactorial heritability of MetS, however, has been a challenge towards understanding the factors underlying the association of these traits. Genetic investigations of outlier kindreds or homogenous populations with high prevalence for the disease can potentially improve our knowledge of the disease pathophysiology.

Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population

“…Many genetic variants that are associated with metabolic syndrome have been identified by genome-wide association studies (GWASs). However, because these known genetic variants account for only a fraction of the heritability of metabolic syndrome, the genetic determinants of this condition remain undefined [ 6 , 7 ]. Many common variants with very small effect sizes that are widely distributed across the genome cannot be identified by the use of traditional GWAS cutoffs [ 8 ].…”

The Relationship between Selected CNR1, MC4R, LEP, FTO and VDR Gene Polymorphisms and Several Basic Toxicological Parameters Among Persons Occupationally Exposed to Arsenic, Cadmium and Lead

“…Research that aims to explain the causes of metabolic syndrome and its epidemic occurrence is based, on the one hand, on genetic and genotypic analyses and, on the other hand, observation of influence of the external environment [4,5].…”

Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population

“…Generally, a minimum of three metabolic abnormalities would be required to diagnose an individual with MetS ( 17 ). Recent GWASs have identified genetic variants related to the clinical manifestations of MetS, and genetic association studies for MetS-related phenotypes have previously been reviewed elsewhere ( 2 , 28 ). Similar to GWASs for obesity-related phenotypes, common MetS-associated genetic variants across several ethnic groups have been identified ( 46 ); however, interethnic differences in MetS susceptibility loci were also observed ( 3 , 23 ).…”