Handbook of Statistical Genetics (Balding/Handbook of Statistical Genetics, Third Edition) || Whole Genome Association

✍ Scribed by Balding, D. J.; Bishop, M.; Cannings, C.

• Publisher: John Wiley & Sons, Ltd
• Year: 2008
• Weight: 244 KB
• Edition: 3
• Category: Article
• ISBN: 0470058307
• DOI: 10.1002/9780470061619.ch37

✦ Synopsis

Whole genome association (WGA) studies have been widely recognised as having great potential to identify genetic polymorphisms contributing to complex human diseases. With recent advances in single nucleotide polymorphism (SNP) genotyping technology, WGA studies using > 10 5 markers are being undertaken by many research groups worldwide with samples large enough to detect the modest genetic effects we expect for complex diseases. In this chapter, we review the key issues for the analysis of data from population-based WGA studies, building on the concepts introduced by Clayton (Chapter 36). We briefly discuss design issues and describe how to assess genotype quality from WGA genotyping technology. We discuss techniques for single-locus analysis and appropriate corrections that can be made to allow for multiple testing of the thousands of SNPs used in WGA studies. We describe how these methods could be extended to allow for environmental and other non-genetic risk factors, multiple SNPs, haplotypes, and epistasis. Finally, we emphasise the importance of replication of the results from WGA studies and discuss the prospects of this approach for complex disease gene mapping.