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Genome-wide association studies of obesity and metabolic syndrome
Authors:Tove Fall  Erik Ingelsson
Affiliation:Dept. of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden
Abstract: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, cohorts for heart and aging research in genomic epidemiology   GWAS, genome-wide association study   eQTL, expression quantitative trait locus   GIANT, Genetic Investigation of ANthropometric Traits   IV, instrumental variable   MetS, metabolic syndrome   MeSH, medical subject headings   MR, Mendelian randomisation   NCEP, National Cholesterol Education Program   QTL, quantitative trait locus   T2D, type 2 diabetes   WC, waist circumference   WHR, waist&ndash  hip ratio   WHO, World Health Organization
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