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Genome-Wide Association Studies of Obesity

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The Genetics of Obesity

Abstract

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.

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Abbreviations

BMI:

Body mass index

CNV:

Copy number variation

GIANT:

Genetic Investigation of ANthropometric Traits

GWAS:

Genome-wide association studies

LD:

Linkage disequilibrium

MAF:

Minor allele frequency

SNP:

Single nucleotide polymorphism

T2D:

Type 2 Diabetes

WC:

Waist circumference

WHR:

Waist–hip ratio

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Authors and Affiliations

  1. Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK

    Åsa K. Hedman, Cecilia M. Lindgren & Mark I. McCarthy

  2. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, 02142, USA

    Cecilia M. Lindgren

  3. Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, OX3 7LJ, UK

    Mark I. McCarthy

  4. Oxford National Institute for Health Research Biomedical Research Centre, Churchill Hospital, Oxford, UK

    Mark I. McCarthy

Authors
  1. Åsa K. Hedman
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  2. Cecilia M. Lindgren
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  3. Mark I. McCarthy
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Corresponding author

Correspondence to Mark I. McCarthy .

Editor information

Editors and Affiliations

  1. Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA

    Struan F.A. Grant

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Hedman, Å.K., Lindgren, C.M., McCarthy, M.I. (2014). Genome-Wide Association Studies of Obesity. In: Grant, S. (eds) The Genetics of Obesity. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8642-8_3

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