• The investigations of genetic determinants of the metabolic syndrome
  • Behdokht Fathi Dizaji,1,*
    1. Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


  • Introduction: The metabolic syndrome refers to the clustering of metabolic disturbances including, central obesity, insulin resistance, atherogenic dyslipidemia and hypertension that increases the risk of type 2 diabetes and cardiovascular diseases. It has one of the highest occurrences worldwide in Iran. Metabolic syndrome is a multifactorial disorder in which environmental factors as well as genetic factors play a role. The aim of this study is to investigate the genetic basis of the condition.
  • Methods: In this review article “Metabolic syndrome”, and “Genetics”, also their synonyms words in Pubmed, ScienceDirect and Scopus databases was searched and suitable articles selected.
  • Results: Family and twin studies, heritability spectrum for its components and different prevalence among ethnicities, have provided evidence of genetic susceptibility to the metabolic syndrome. The investigations of genetic base for the disorder have recognized numerous chromosomes, various DNA polymorphisms in candidate genes and many gene variants, that are associated with metabolic syndrome as an entity or its traits, which mostly are related to lipid metabolism. In addition, recent finding of the role of rare variants, epigenetic mechanisms, non-coding RNAs and evaluating the function of genes in molecular networks have improved our knowledge. However, a common genetic basis explaining the co-occurrence of its components has not been identified.
  • Conclusion: We have gained valuable information about genetic context of the metabolic syndrome. Although owing to various study designs, insufficient sample size, different genetic background, lack of consensus definition of metabolic syndrome, the complications of presenting the effects of environmental factors into the study, it is difficult to gain consistent results. Nevertheless, the combination of functional studies with genetic information and including the impact of environmental factors could give a valuable insight into the metabolic syndrome and thinking of new ideas such, exploring the metabolic syndrome relation to copy number variation (CNV) would be as a new strategy.
  • Keywords: Metabolic syndrome, Genetic variants, Genetic study methods