Association of uncoupling protein (Ucp) gene polymorphisms with cardiometabolic diseases

Mol Med. 2020 May 25;26(1):51. doi: 10.1186/s10020-020-00180-4.

Abstract

The hereditary aspect of obesity is a major focus of modern medical genetics. The genetic background is known to determine a higher-than-average prevalence of obesity in certain regions, like Oceania. There is evidence that dysfunction of brown adipose tissue (BAT) may be a risk factor for obesity and type 2 diabetes (T2D). A significant number of studies in the field focus on the UCP family. The Ucp genes code for electron transport carriers. UCP1 (thermogenin) is the most abundant protein of the UCP superfamily and is expressed in BAT, contributing to its capability of generating heat. Single nucleotide polymorphisms (SNPs) of Ucp1-Ucp3 were recently associated with risk of cardiometabolic diseases. This review covers the main Ucp SNPs A-3826G, A-1766G, A-112C, Met229Leu, Ala64Thr (Ucp1), Ala55Val, G-866A (Ucp2), and C-55 T (Ucp3), which may be associated with the development of obesity, disturbance in lipid metabolism, T2D, and cardiovascular diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Gene Expression Regulation
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Metabolic Syndrome / diagnosis
  • Metabolic Syndrome / etiology*
  • Metabolic Syndrome / metabolism
  • Metabolic Syndrome / therapy
  • Mitochondrial Uncoupling Proteins / genetics*
  • Multigene Family*
  • Organ Specificity
  • Polymorphism, Single Nucleotide*

Substances

  • Mitochondrial Uncoupling Proteins