Genetic susceptibility to complex traits : moving towards informed analysis of whole-genome screens

Green, Michael R., Camilleri, Emily, Gandhi, Maher K., & Griffiths, Lyn R. (2009) Genetic susceptibility to complex traits : moving towards informed analysis of whole-genome screens. In Matsumoto, Akio & Nakano, Mai (Eds.) The Human Genome : Features, Variations and Genetic Disorders. Nova Science Publishers, New York USA, pp. 167-180.

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Susceptibility to complex traits, by definition, involves aetiological polymorphisms at multiple genetic loci combined with variable contributions by environmental factors. However, the approaches taken to identifying genetic loci implicated in susceptibility to complex traits frequently overlooks the compounding contribution of multiple loci in favour of highlighting a single gene solely responsible for predisposition. It is only in a small minority of cases that this has resulted in clear disease heritability associated with polymorphisms in a single gene. More often, this approach has led to an accumulation of single-gene associations with minor contributions to disease susceptibility. As the genomic era advances and genome-wide screens become higher in resolution and throughput, the need for simultaneous consideration of multiple loci is becoming more important. With special reference to non-Hodgkin’s lymphoma (NHL), this chapter will overview the current progress made in elucidating genetic polymorphisms associated with disease susceptibility. We also present novel data from a high-resolution single nucleotide polymorphism (SNP) microarray screen for susceptibility loci that are involved in NHL. Using an ‘informed approach’, the findings are highlighted within the context of cellular pathways, and provide insight and new ideas for methods of analysis for genome-wide screens for susceptibility.

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ID Code: 63661
Item Type: Book Chapter
ISBN: 9781607416951
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2009 Nova Science Publishers
Deposited On: 23 Oct 2013 02:23
Last Modified: 21 Aug 2016 16:07

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