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Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes
journal contribution
posted on 2004-01-01, 00:00 authored by Jeremy Jowett, K Elliott, J Curran, N Hunt, Ken WalderKen Walder, Gregory Collier, P Zimmet, J BlangeroThe 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.
History
Journal
DiabetesVolume
53Issue
9Pagination
2467 - 2472Publisher
American Diabetes AssociationLocation
Alexandria, Va.Publisher DOI
ISSN
0012-1797eISSN
1939-327XLanguage
engPublication classification
C1 Refereed article in a scholarly journalCopyright notice
2004, American Diabetes Association, Inc.Usage metrics
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