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

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    62316_1.pdf (433.3Kb)
    Author(s)
    Green, Michael
    Camilleri, Emily
    K. Gandhi, Maher
    Griffiths, Lyn
    Griffith University Author(s)
    Griffiths, Lyn
    Camilleri, Emily T.
    Green, Michael R.
    Year published
    2009
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    Abstract
    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 ...
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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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    Book Title
    The Human Genome: Features, Variations and Genetic Disorders
    Publisher URI
    https://www.novapublishers.com/catalog/product_info.php?products_id=10162
    Copyright Statement
    © 2009 Nova Science Publishers Inc. Use hypertext link for access to the publisher's website. The attached file is reproduced here in accordance with the copyright policy of the publisher.
    Subject
    Gene Expression (incl. Microarray and other genome-wide approaches)
    Publication URI
    http://hdl.handle.net/10072/30982
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    • Book chapters

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