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Diabetes 53:847-851, 2004
© 2004 by the American Diabetes Association, Inc.

Brief Genetics Report

Genetic Polymorphisms in Peroxisome Proliferator-Activated Receptor {delta} Associated With Obesity

Hyoung Doo Shin1, Byung Lae Park1, Lyoung Hyo Kim1, Hye Seung Jung2,3, Young Min Cho2,3, Min Kyong Moon2,3, Young Joo Park2,3, Hong Kyu Lee2,3, and Kyong Soo Park2,3

1 Department of Genetic Epidemiology, SNP Genetics, Seoul, Korea
2 Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
3 Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea

Peroxisome proliferator-activated receptors (PPARs) are nuclear receptors regulating the expression of genes involved in lipid and glucose metabolism. Three different PPARs, PPAR-{alpha}, -{gamma}, and -{delta}, have been characterized, and they are distinguished from each other by tissue distribution and cell activation. All PPARs are, to different extents, activated by fatty acids and derivatives. Recently, it has been shown that PPAR-{delta} serves as a widespread regulator of fat burning, suggesting that it might be a potential target in the treatment of obesity and type 2 diabetes. In an effort to identify polymorphic markers in potential candidate genes for type 2 diabetes, we have sequenced PPAR-{delta}, including -1,500 bp of the 5' flanking region. Nine polymorphisms were identified in PPAR-{delta}: four in the intron, one in the 5' untranslated region (UTR), and four in the 3' UTR. Among identified polymorphisms, five common sites, including c.-13454G>T, c.-87T>C, c.2022+12G>A, c.2629T>C, and c.2806C>G, were genotyped in subjects with type 2 diabetes and normal control subjects (n = 702). The genetic associations with the risk of type 2 diabetes and metabolic phenotype were analyzed. No significant associations with the risk of type 2 diabetes were detected. However, several positive associations of PPAR-{delta} polymorphisms with fasting plasma glucose and BMI were detected in nondiabetic control subjects. The genetic information about PPAR-{delta} from this study would be useful for further genetic study of obesity, diabetes, and other metabolic diseases.

Address correspondence and reprint requests to Prof. K.S. Park, Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Gu, Seoul, Korea 110-744. E-mail: kspark{at}snu.ac.kr


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Diabetes Diabetes Care Clinical Diabetes Diabetes Spectrum
Copyright © 2004 by the American Diabetes Association.