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Genome-wide Association Studies and Human DiseaseFrom Trickle to Flood
Peter M. Visscher, PhD;
Grant W. Montgomery, PhD
JAMA. 2009;302(18):2028-2029.
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Many common complex diseases such as hypertension, diabetes, coronary heart disease, psychiatric disorders, and some cancers have a genetic etiology. Despite enormous efforts over the last few decades, little real progress was made in finding the genes and causal variants involved. Genome-wide association studies, in which hundreds of thousands of DNA markers are tested (usually in a case-control design) for association with disease, provide the first effective approach to search for genetic variants that contribute to the complex etiology of common human diseases.
In the last 3 years, almost 1000 variants associated with a range of human traits and common diseases have been identified using genome-wide association methods (Figure).1-2 To date, most of these studies have been in populations of European descent.
Figure appears in full text version.
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Figure. The Genome-wide Association Revolution: From Trickle to Flood
SNPs indicates single-nucleotide polymorphisms.
Data are adapted from the . . . [Full Text of this Article]
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Author Affiliations: Department of Statistical Genetics (Dr Visscher) and Department of Molecular Epidemiology (Dr Montgomery), Queensland Institute of Medical Research, Brisbane, Australia.
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