Human QTL linkage mapping

Laura Almasy, John Blangero

    Research output: Contribution to journalArticle

    23 Scopus citations

    Abstract

    Human quantitative trait locus (QTL) linkage mapping, although based on classical statistical genetic methods that have been around for many years, has been employed for genome-wide screening for only the last 10-15 years. In this time, there have been many success stories, ranging from QTLs that have been replicated in independent studies to those for which one or more genes underlying the linkage peak have been identified to a few with specific functional variants that have been confirmed in in vitro laboratory assays. Despite these successes, there is a general perception that linkage approaches do not work for complex traits, possibly because many human QTL linkage studies have been limited in sample size and have not employed the family configurations that maximize the power to detect linkage. We predict that human QTL linkage studies will continue to be productive for the next several years, particularly in combination with RNA expression level traits that are showing evidence of regulatory QTLs of large effect sizes and in combination with high-density genome-wide SNP panels. These SNP panels are being used to identify QTLs previously localized by linkage and linkage results are being used to place informative priors on genome-wide association studies.

    Original languageEnglish (US)
    Pages (from-to)333-340
    Number of pages8
    JournalGenetica
    Volume136
    Issue number2
    DOIs
    StatePublished - Jun 1 2009

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    Keywords

    • Genome screen
    • Haseman-Elston
    • IBD
    • Quantitative traits
    • Variance components

    ASJC Scopus subject areas

    • Animal Science and Zoology
    • Genetics
    • Plant Science
    • Insect Science

    Cite this

    Almasy, L., & Blangero, J. (2009). Human QTL linkage mapping. Genetica, 136(2), 333-340. https://doi.org/10.1007/s10709-008-9305-3