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Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population

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dc.contributor.authorKim, J H-
dc.contributor.authorShin, H D-
dc.contributor.authorPark, B L-
dc.contributor.authorCho, Y M-
dc.contributor.authorKim, S Y-
dc.contributor.authorLee, H K-
dc.contributor.authorPark, K S-
dc.date.accessioned2010-01-07T01:11:47Z-
dc.date.available2010-01-07T01:11:47Z-
dc.date.issued2005-06-07-
dc.identifier.citationDiabetologia. 2005 Jul;48(7):1323-30. Epub 2005 Jun 4.en
dc.identifier.issn0012-186X (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15937669-
dc.identifier.urihttps://hdl.handle.net/10371/27574-
dc.description.abstractAIMS/HYPOTHESIS: Peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC-1alpha) is a transcriptional coactivator implicated in insulin release by beta cells and in insulin resistance. Therefore, genetic variation of PPARGC1A could be implicated in the onset of type 2 diabetes. In this study, we examined whether the PPARGC1A gene locus is associated with type 2 diabetes mellitus. We also investigated its association with clinical and metabolic parameters in healthy and diabetic subjects. METHODS: After sequencing exons and their boundaries of the PPARGC1A gene, including the promoter region ( approximately 1.5 kb), we genotyped eight common single nucleotide polymorphisms (SNPs) in an association study comprising 762 unrelated patients with type 2 diabetes and 303 non-diabetic control patients. We divided the patients with type 2 diabetes into quartiles or three groups according to age at diagnosis of type 2 diabetes (early-onset: <40 years of age, average-onset: 40< or = <60 years, and late-onset: > or =60 years). RESULTS: There was no strong association between SNPs or haplotypes of PPARGC1A and type 2 diabetes. However, the SNPs of g.-1789G>A and g.-1437C>T were associated with the age at diagnosis of type 2 diabetes (p=0.042 and p=0.032, respectively). In addition, the promoter SNPs of g.-1789G>A and g.-1437C>T and the haplotypes ht2 (-1789A and -1437T) were significantly associated with early-onset type 2 diabetes (p=0.002, p=0.001 and p=0.001, respectively). CONCLUSIONS/INTERPRETATION: Our results suggest that PPARGC1A promoter polymorphisms are associated with age at diagnosis of type 2 diabetes and early-onset type 2 diabetes in the Korean population.en
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.subjectAge of Onseten
dc.subjectAgeden
dc.subjectChromosome Mappingen
dc.subjectChromosomes, Human, Pair 4en
dc.subjectDiabetes Mellitus, Type 2/*geneticsen
dc.subjectGenotypeen
dc.subjectHeat-Shock Proteins/*geneticsen
dc.subjectHumansen
dc.subjectKoreaen
dc.subjectLinkage Disequilibriumen
dc.subjectMiddle Ageden
dc.subjectTranscription Factors/*geneticsen
dc.subjectPolymorphism, Genetic-
dc.subjectPromoter Regions, Genetic-
dc.titlePeroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean populationen
dc.typeArticleen
dc.identifier.doi10.1007/s00125-005-1793-4-
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