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Association of genetic vatiation within UBL5 with phenotypes of metabolic syndrome

Bozaoglu, Kiymet, Curran, Joanne E., Elliott, Kate S., Walder, Ken, Dyer, Thomas D., Rainwater, David L., Vandenberg, John L., Comuzzie, Anthony G., Collier, Gregory, Zimmet, Paul, Maccluer, Jean W., Jowett, Jeremy and Blangero, John 2006, Association of genetic vatiation within UBL5 with phenotypes of metabolic syndrome, Human biology, vol. 78, no. 2, pp. 147-159.

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Title Association of genetic vatiation within UBL5 with phenotypes of metabolic syndrome
Author(s) Bozaoglu, Kiymet
Curran, Joanne E.
Elliott, Kate S.
Walder, Ken
Dyer, Thomas D.
Rainwater, David L.
Vandenberg, John L.
Comuzzie, Anthony G.
Collier, Gregory
Zimmet, Paul
Maccluer, Jean W.
Jowett, Jeremy
Blangero, John
Journal name Human biology
Volume number 78
Issue number 2
Start page 147
End page 159
Publisher Wayne State University Press
Place of publication Detroit, Mich.
Publication date 2006
ISSN 0018-7143
1534-6617
Keyword(s) metabolic syndrome
UBL5
beacon gene
dyslipidemia
diabetes
Mexican Americans
San Antonio family heart study
Mauritians
Nauruans
Summary The BEACON gene was initially identified using the differential display polymerase chain reaction on hypothalamic mRNA samples collected from lean and obese Psammomys obesus, a polygenic animal model of obesity. Hypothalamic BEACON gene expression was positively correlated with percentage of body fat, and intracerebroventricular infusion of the Beacon protein resulted in a dose-dependent increase in food intake and body weight. The human homolog of BEACON, UBL5, is located on chromosome 19p in a region previously linked to quantitative traits related to obesity. Our previous studies showed a statistically significant association between UBL5 sequence variation and several obesity- and diabetes-related quantitative physiological measures in Asian Indian and Micronesian cohorts. Here we undertake a replication study in a Mexican American cohort where the original linkage signal was first detected. We exhaustively resequenced the complete gene plus the putative promoter region for genetic variation in 55 individuals and identified five single nucleotide polymorphisms (SNPs), one of which was novel. These SNPs were genotyped in a Mexican American cohort of 900 individuals from 40 families. Using a quantitative trait linkage disequilibrium test, we found significant associations between UBL5 genetic variants and waist-to-hip ratio (p = 0.027), and the circulating concentrations of insulin (p = 0.018) and total cholesterol (p = 0.023) in fasted individuals. These data are consistent with our earlier published studies and further support a functional role for the UBL5 gene in influencing physiological traits that underpin the development of metabolic syndrome.
Language eng
Field of Research 060412 Quantitative Genetics (incl Disease and Trait Mapping Genetics)
Socio Economic Objective 970106 Expanding Knowledge in the Biological Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2006, Wayne State University Press
Persistent URL http://hdl.handle.net/10536/DRO/DU:30004156

Document type: Journal Article
Collections: School of Exercise and Nutrition Sciences
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.