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Genome-Wide Association Studies and Human Population Obesity

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Obesity Before Birth

Part of the book series: Endocrine Updates ((ENDO,volume 30))

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Abstract

In the past 3 years, genome-wide association (GWA) studies have revolutionized the field of obesity genetics by establishing at least 15 new genetic-susceptibility loci for common obesity. GWA studies are hypothesis-generating in that they interrogate hundreds of thousands of genetic variants across the whole human genome for association with a disease or trait of interest without an a priori hypothesis. As such, GWA studies hope to identify new genetic loci previously unknown to have a role in the disease, which can instigate new hypotheses leading to an increased biological understanding of underlying mechanisms. A GWA typically consists of a discovery and a replication stage. The discovery stage is the actual genome-wide scan, followed by the replication stage that validates the most significant findings from the discovery stage. So far, three waves of GWA studies for obesity-related traits have been carried out, characterized by increasing sample sizes and by an increased number of established genetic loci. Despite the enormous progress in the field, the currently established 15 loci explain only a small part of the inter-individual variation in BMI (<2%). Many more loci remain to be uncovered to account for the 40–70% heritability estimates. Establishing the underlying biological mechanisms of these new loci and pinpointing the causal variants remain the challenge ahead.

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Authors and Affiliations

  1. MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge, UK

    Ruth J.F. Loos & Tuomas O. Kilpeläinen

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  1. Ruth J.F. Loos
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  2. Tuomas O. Kilpeläinen
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Correspondence to Ruth J.F. Loos .

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Editors and Affiliations

  1. Director, Weight Assessment for Teen and, Division of Endocrinology, University of California, San Francisco, San Francisco, 94143, USA

    Robert H Lustig

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Loos, R.J., Kilpeläinen, T.O. (2011). Genome-Wide Association Studies and Human Population Obesity. In: Lustig, R. (eds) Obesity Before Birth. Endocrine Updates, vol 30. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-7034-3_5

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  • DOI: https://doi.org/10.1007/978-1-4419-7034-3_5

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