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© Springer Science+Business Media New York 2014. All rights are reserved. Genome-wide association studies (GWAS) have accelerated the discovery of genetic variants associated with susceptibility to common complex diseases, such as obesity. Following the first robust GWAS of BMI and risk of obesity identified in 2007, GWAS have delivered 73 additional common loci associated with a wide range of obesity-related traits. These loci highlight a variety of molecular and physiological mechanisms involved in shaping these traits. However, even in combination, these loci explain only a small proportion of overall phenotypic heritability indicating that much of the genetic variation in obesity traits remains unexplained. Here, we discuss how the GWAS approach has been applied to the study of anthropometric phenotypes related to overall obesity and fat distribution and describe some of the clues to trait biology that are emerging. We also highlight some of the limitations of this work and future directions for research in this field.

Original publication





Book title

The Genetics of Obesity

Publication Date



33 - 53