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Edinburgh, Scotland, United Kingdom - TAIR

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Genome-wide association study of 100+<br />

phenotypes in a common set of Arabidopsis<br />

thaliana inbred lines<br />

Arabidopsis thaliana is ideally suited for genome-wide association (GWA) studies<br />

in that it naturally occurs as inbred lines, which can be genotyped once and<br />

phenotyped repeatedly. We demonstrate the power of this approach by carrying<br />

out a GWA study of 107 different phenotypes in a common set of 96-192 inbred<br />

lines (the number of lines varies between phenotypes) genotyped for 250,000<br />

SNPs using a custom Affymetrix chip. The results varied considerably between<br />

phenotypes. A minority yielded unambiguous results in the form of distinct,<br />

obviously significant associations, usually corresponding to single genes, and<br />

often to a priori candidates. The majority of phenotypes, however, yielded results<br />

that were harder to interpret because the combination of complex genetics and<br />

confounding by population structure made it difficult to distinguish true from false<br />

associations. A priori candidates are strongly overrepresented among these<br />

associations as well. Our results are dramatically different from the results of<br />

human GWA studies in that we identify a large number of loci with major effect<br />

size, and that we often explain a considerable fraction of the phenotypic<br />

variation. Our study clearly demonstrates the feasibility of GWA studies in A.<br />

thaliana, and suggests that the approach will be appropriate for many other<br />

organisms.<br />

38<br />

L13<br />

Friday 09:00 - 09:30<br />

Natural Variation<br />

Magnus Nordborg<br />

Gregor Mendel Institute<br />

Dr Bohr-Gasse 3<br />

030 Vienna<br />

Austria

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