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From Identification to Function: Current Strategies to Prioritise and Follow-Up GWAS Results

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Genetic Epidemiology

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1793))

Abstract

Along with family-based studies, dozens of genome-wide association studies (GWAS) have clearly identified the genetic basis of common diseases and complex traits. There are currently hundreds of single nucleotide polymorphisms (SNP) associated with human disease as well as biochemical and physiological phenotypes. Although this is only the tip of the iceberg, we are now confronted with a general lack of understanding of how these trait-associated variants act. How do these genetic changes lead to overt clinical phenotypes? What are the molecular mechanisms? Can we harness this information to develop better preventive and curative strategies? Current efforts are shifting to focus on these questions as we move from identifying variants to understanding their effects. Here I provide a broad overview of the main technical concerns and current bottlenecks as we approach this new phase.

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Acknowledgements

I am funded by a Medical Research Council Intermediate Fellowship through the UK MED-BIO Programme (MR/L01632X/1).

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Authors and Affiliations

  1. MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Faculty of Medicine, Imperial College London, London, UK

    Antonio J. Berlanga-Taylor

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  1. Antonio J. Berlanga-Taylor
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Correspondence to Antonio J. Berlanga-Taylor .

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Editors and Affiliations

  1. Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece

    Evangelos Evangelou

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Berlanga-Taylor, A.J. (2018). From Identification to Function: Current Strategies to Prioritise and Follow-Up GWAS Results. In: Evangelou, E. (eds) Genetic Epidemiology. Methods in Molecular Biology, vol 1793. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7868-7_15

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  • DOI: https://doi.org/10.1007/978-1-4939-7868-7_15

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