Abstract

The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.

Author affiliations

1. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
2. Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.
3. Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.
4. Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
5. Center for Population Genomics and Pharmacogenetics, Duke Institute for Genomic Sciences and Policy, Duke University Medical Center, Duke University, Durham, North Carolina 27708, USA.
6. Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, Ontario, Canada.
7. Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, and Biomedical Research Institute, Foundation for Research and Technology-Hellas, Ioannina 45110 Greece.
8. Department of Medicine, Tufts University School of Medicine, Boston, Massachusetts 02111, USA.
9. Division of Genetics and Endocrinology and Program in Genomics, Children's Hospital, Boston, Massachusetts 02115, USA.
10. Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
11. Broad Institute at MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Correspondence to: Mark I. McCarthy^1,2 Email: mark.mccarthy@drl.ox.ac.uk

MORE ARTICLES LIKE THIS

These links to content published by NPG are automatically generated.