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Human Molecular Genetics Advance Access originally published online on July 21, 2005
Human Molecular Genetics 2005 14(17):2485-2488; doi:10.1093/hmg/ddi252
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

COMMENTARY

Guidelines for conducting and reporting whole genome/large-scale association studies

Margaret G. Ehm1, Matthew R. Nelson1 and Nigel K. Spurr2,*

1Design and Standards, GlaxoSmithKline, Research Triangle Park, NC, USA and 2Portfolio Genetics, GlaxoSmithKline, Stevenage, Herts, UK

* To whom correspondence should be addressed. Email: nigel_k_spurr@gsk.com

Received June 30, 2005; Accepted July 11, 2005

The first 150 words of the full text of this article appear below.


   Introduction
 
Many studies have tested for association with a trait, using a few to hundreds, and in some cases thousands, of genetic variants. However, very few of the reported genetic associations for complex traits have been confirmed when tested in independent sample collections (1Go). Several factors have made identification of replicable genetic associations, especially for complex diseases, a challenge. Nevertheless, there are several examples of successful attempts to identify genes involved in common, complex diseases, such as APOE and Alzheimer's disease (2Go), PPARG and Type II diabetes (3Go,4Go) or most recently CFH and age-related macular degeneration (5Go,6Go). Developing the tools to systematically search for such variants is important, as it is expected that more comprehensive analysis of candidate regions or even the whole genome in well-designed studies will produce more robust results. The biological, technical and statistical foundations have been laid for whole genome association . . . [Full Text of this Article]

Study design
Genotyping and marker selection
Statistical analysis

   SUPPLEMENTARY MATERIAL
 

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