Genome-wide association studies of obesity and metabolic syndrome

Mol Cell Endocrinol. 2014 Jan 25;382(1):740-757. doi: 10.1016/j.mce.2012.08.018. Epub 2012 Sep 3.


Until just a few years ago, the genetic determinants of obesity and metabolic syndrome were largely unknown, with the exception of a few forms of monogenic extreme obesity. Since genome-wide association studies (GWAS) became available, large advances have been made. The first single nucleotide polymorphism robustly associated with increased body mass index (BMI) was in 2007 mapped to a gene with for the time unknown function. This gene, now known as fat mass and obesity associated (FTO) has been repeatedly replicated in several ethnicities and is affecting obesity by regulating appetite. Since the first report from a GWAS of obesity, an increasing number of markers have been shown to be associated with BMI, other measures of obesity or fat distribution and metabolic syndrome. This systematic review of obesity GWAS will summarize genome-wide significant findings for obesity and metabolic syndrome and briefly give a few suggestions of what is to be expected in the next few years.

Keywords: BMI; Body mass index; CHARGE; GIANT; GWAS; Genetic Investigation of ANthropometric Traits; Genetics; Genome-wide association studies; IV; MR; MeSH; Mendelian randomisation; MetS; Metabolic syndrome; NCEP; National Cholesterol Education Program; Obesity; QTL; T2D; WC; WHO; WHR; World Health Organization; body mass index; cohorts for heart and aging research in genomic epidemiology; eQTL; expression quantitative trait locus; genome-wide association study; instrumental variable; medical subject headings; metabolic syndrome; quantitative trait locus; type 2 diabetes; waist circumference; waist–hip ratio.

Publication types

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

MeSH terms

  • Adiposity / genetics
  • Body Mass Index
  • Chromosome Mapping
  • Ethnicity / genetics
  • Genome-Wide Association Study*
  • Humans
  • Metabolic Syndrome / genetics*
  • Obesity / genetics*
  • Waist Circumference / genetics