Abstract
After more than a decade of hope and hype, researchers are finally making inroads into understanding the genetic basis of many common human diseases. The use of genome-wide association studies has broken the logjam, enabling genetic variants at specific loci to be associated with particular diseases. Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention.
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References
Barrett, J. et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nature Genet. 40, 955–962 (2008).
Zeggini, E. et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genet. 40, 638–645 (2008).
Weedon, M. et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genet. 40, 575–583 (2008).
Lettre, G. et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genet. 40, 584–591 (2008).
Manolio, T. et al. A HapMap harvest of insights into the genetics of common disease. J. Clin. Invest. 118, 1590–1605 (2008).
McCarthy, M. et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Rev. Genet. 9, 356–369 (2008).
Hunt, K. A. et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nature Genet. 40, 395–402 (2008).
Maher, B. The case of the missing heritability. Nature 456, 18–21 (2008).
Turnbull, C. et al. Genetic predisposition to breast cancer: past, present, and future. Annu. Rev. Genomics Hum. Genet. 9, 321–345 (2008).
O'Rahilly, S. P. et al. β-Cell dysfunction, rather than insulin insensitivity is the primary defect in familial type 2 diabetes. Lancet 328, 360–364 (1986).
Florez, J. C. Newly identified loci highlight β cell dysfunction as a key cause of type 2 diabetes: where are the insulin resistance genes? Diabetologia 51, 1100–1110 (2008).
Stratton, M. & Rahman, N. The emerging landscape of breast cancer susceptibility. Nature Genet. 40, 17–21 (2008).
McPherson, R. et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316, 1488–1491 (2007).
Helgadottir, A. et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316, 1491–1493 (2007).
The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 controls. Nature 447, 661–678 (2007).
Saxena, R. et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316, 1331–1336 (2007).
Zeggini, E. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316, 1336–1341 (2007).
Scott, L. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316, 1341–1345 (2007).
Gudmundsson, J. et al. Two variants on chromosome 17 confer prostate cancer risk and one in TCF2 protects against type 2 diabetes. Nature Genet. 39, 977–983 (2007).
Thomas, G. et al. Multiple loci identified in a genome-wide association scan of prostate cancer. Nature Genet. 40, 310–315 (2008).
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Correspondence should be addressed to the author (peter.donnelly@well.ox.ac.uk).
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Donnelly, P. Progress and challenges in genome-wide association studies in humans. Nature 456, 728–731 (2008). https://doi.org/10.1038/nature07631
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DOI: https://doi.org/10.1038/nature07631
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