Document Detail


PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.
MedLine Citation:
PMID:  17216277     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIMS/HYPOTHESIS: The peroxisome proliferator-activated receptor gamma coactivator 1-alpha protein, encoded by the PPARGC1A gene, transcriptionally activates a complex pathway of lipid and glucose metabolism and is expressed primarily in tissues of high metabolic activity such as liver, heart and exercising oxidative skeletal muscle fibre. Ppargc1a-null mice develop systemic dyslipidaemia and hepatic steatosis. In humans, NEFAs downregulate PPARGC1A expression in skeletal muscle. Furthermore, a common non-synonymous coding variant at PPARGC1A (Gly482Ser, rs8192678) is associated with decreased PPARGC1A mRNA levels and increased type 2 diabetes risk. MATERIALS AND METHODS: In a population-based sample of 691 healthy middle-aged Europids we assessed whether Gly482Ser is associated with levels of NEFA when fasting and in response to an oral glucose challenge. We also assessed the potential effect-modifying role of adipose tissue mass on these phenotypes. RESULTS: After adjustment for age, sex, fat mass and fat-free mass, the Ser482 allele associated with higher NEFA at 30 min and 2 h and with NEFA AUC (all values p<or=0.02). Furthermore, suggestive evidence of interaction between fat mass and Gly482Ser was observed for fasting NEFA (p=0.059). After stratification by level of obesity, genotype associations were observed in the obese for fasting NEFA (p=0.028) and NEFA at 30 min (p=0.013) and 2 h (p=0.002), and with NEFA AUC (p=0.005), but no significant associations were observed in lean individuals (all values p>0.6). CONCLUSIONS/INTERPRETATION: Our observations indicate that NEFA clearance is blunted following a glucose load in carriers of the PPARCG1A Ser482 allele. This association is augmented by obesity.
Authors:
P W Franks; U Ekelund; S Brage; J Luan; A J Schafer; S O'Rahilly; I Barroso; N J Wareham
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-01-10
Journal Detail:
Title:  Diabetologia     Volume:  50     ISSN:  0012-186X     ISO Abbreviation:  Diabetologia     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-06     Completed Date:  2007-09-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0006777     Medline TA:  Diabetologia     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  569-73     Citation Subset:  IM    
Affiliation:
Genetic Epidemiology and Clinical Research Group, Department of Public Health and Clinical Medicine, Section for Medicine, Umeå University Hospital, Umeå, Sweden. paul.franks@medicin.umu.se
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MeSH Terms
Descriptor/Qualifier:
Adipose Tissue / anatomy & histology
Adult
Amino Acid Substitution
Fatty Acids, Nonesterified / blood*
Female
Gene Frequency
Genetic Variation*
Genotype
Heat-Shock Proteins / genetics*
Humans
Male
Middle Aged
Transcription Factors / genetics*
Transcription, Genetic
Grant Support
ID/Acronym/Agency:
077016//Wellcome Trust
Chemical
Reg. No./Substance:
0/Fatty Acids, Nonesterified; 0/Heat-Shock Proteins; 0/PPARGC1A protein, human; 0/Transcription Factors
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