Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes

Jeremy B. Jowett, Kate S. Elliott, Joanne E. Curran, Nicola Hunt, Ken R. Walder, Greg R. Collier, Paul Z. Zimmet, John Blangero

    Research output: Contribution to journalArticle

    29 Scopus citations

    Abstract

    The BEACON gene (also known as UBL5) was identified as differentially expressed between lean and obese Psammomys obesus, a polygenic animal model of obesity, type 2 diabetes, and dyslipidemia. The human homologue of BEACON is located on chromosome 19p, a region likely to contain genes affecting metabolic syndrome-related quantitative traits as established by linkage studies. To assess whether the human BEACON gene may be involved in influencing these traits, we exhaustively analyzed the complete gene for genetic variation in 40 unrelated individuals and identified four variants (three novel). The two more common variants were tested for association with a number of quantitative metabolic syndrome-related traits in two large cohorts of unrelated individuals. Significant associations were found between these variants and fat mass (P = 0.026), percentage of fat (P = 0.001), and waist-to-hip ratio (P = 0.031). The same variants were also associated with total cholesterol (P = 0.024), LDL cholesterol (P = 0.019), triglycerides (P = 0.006), and postglucose load insulin levels (P = 0.018). Multivariate analysis of these correlated phenotypes also yielded a highly significant association (P = 0.0004), suggesting that BEACON may influence phenotypic variation in metabolic syndrome-related traits.

    Original languageEnglish (US)
    Pages (from-to)2467-2472
    Number of pages6
    JournalDiabetes
    Volume53
    Issue number9
    DOIs
    StatePublished - Sep 1 2004

    ASJC Scopus subject areas

    • Internal Medicine
    • Endocrinology, Diabetes and Metabolism

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    Jowett, J. B., Elliott, K. S., Curran, J. E., Hunt, N., Walder, K. R., Collier, G. R., Zimmet, P. Z., & Blangero, J. (2004). Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes. Diabetes, 53(9), 2467-2472. https://doi.org/10.2337/diabetes.53.9.2467