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

Jowett, Jeremy, Elliott, Kate S., Curran, Joanne E., Hunt, Nicola, Walder, Ken, Collier, Greg, Zimmet, Paul Z. and Blangero, John 2004, Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes, Diabetes, vol. 53, no. 9, pp. 2467-2472, doi: 10.2337/diabetes.53.9.2467.

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Title Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes
Author(s) Jowett, Jeremy
Elliott, Kate S.
Curran, Joanne E.
Hunt, Nicola
Walder, KenORCID iD for Walder, Ken
Collier, Greg
Zimmet, Paul Z.
Blangero, John
Journal name Diabetes
Volume number 53
Issue number 9
Start page 2467
End page 2472
Publisher American Diabetes Association
Place of publication Alexandria, Va.
Publication date 2004
ISSN 0012-1797
Summary 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.
Language eng
DOI 10.2337/diabetes.53.9.2467
Field of Research 060405 Gene Expression (incl Microarray and other genome-wide approaches)
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2004, American Diabetes Association, Inc.
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Document type: Journal Article
Collection: School of Exercise and Nutrition Sciences
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