The PPARGC1A Is the Gene Responsible for Thrifty Metabolism Related Metabolic Diseases: A Scoping Review

Genes (Basel). 2022 Oct 18;13(10):1894. doi: 10.3390/genes13101894.

Abstract

The "thrifty genotype" hypothesis has thus far described the relationship between specific genes and the population's resilience to food scarcity circumstances, but its link to the widespread prevalence of genetic diseases and metabolic syndrome has not been adequately mapped. The purpose of the study was to discover genes responsible for thrifty metabolism. A systematic search with keywords was performed for relevant titles. This study used the article's database published by Pubmed, Proquest, and EBSCO from January, 2009 to September, 2022. Out of 418 papers screened for eligibility, the final evaluation determined that five studies should be included in the analysis. Results indicated that PPARGC1A Gly482Ser led to high BMI in the Tongans population but was unrelated to the onset of type 2 diabetes mellitus, but this was not the case in the Maori population. Significantly differing frequencies of PPAR C1431T and Pro12Ala gene polymorphisms were observed in the Iranian population. GWAS identification of additional genes in Asian and European populations did not produce consistent findings. As a summary, PPARGC1A Gly482Ser addresses as the gene responsible for thrifty metabolism in the Pacific population although some studies show inconsistent results.

Keywords: diabetes mellitus; metabolic syndrome; polymorphism; thrifty genotype.

Publication types

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

MeSH terms

  • Diabetes Mellitus, Type 2* / genetics
  • Diabetes Mellitus, Type 2* / metabolism
  • Humans
  • Iran
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha / genetics
  • Peroxisome Proliferator-Activated Receptors / genetics
  • Polymorphism, Genetic

Substances

  • Peroxisome Proliferator-Activated Receptors
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • PPARGC1A protein, human

Grants and funding

This work was supported by the doctoral scholarship provided by The Indonesia Endowment Fund for Education (LPDP), Ministry of Finance, Republic of Indonesia, Grant Number KET-822/LPDP.4/2020.