Diabetes Research and Clinical Practice
Volume 86, Issue 3 , Pages 168-172 , December 2009

Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population

  • Shuying Zhu

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
    • These authors contributed equally to this study.
  • ,
  • Yang Liu

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
    • These authors contributed equally to this study.
  • ,
  • Xin Wang

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
  • ,
  • Xiaopan Wu

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
  • ,
  • Xilin Zhu

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
  • ,
  • Jingyun Li

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
  • ,
  • Juan Ma

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
  • ,
  • Harvest F. Gu

      Affiliations

    • Rolf Luft Centre for Diabetes Research, Department of Molecular Medicine and Surgery, Karolinska Hospital, Karolinska Institutet, Stockholm, Sweden
  • ,
  • Ying Liu

      Affiliations

    • National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, PR China
    • Corresponding Author InformationCorresponding author. Tel.: +86 10 65296419; fax: +86 10 65296419.

Received 24 June 2009 ,Revised 14 September 2009 ,Accepted 17 September 2009.

References 

  1. Yoon JC, Xu G, Deeney JT, Yang SN, Rhee J, Puigserver P, et al. Suppression of beta cell energy metabolism and insulin release by PGC-1alpha. Dev. Cell. 2003;5:73–83
  2. Soyal S, Krempler F, Oberkofler H, Patsch W. PGC-1alpha: a potent transcriptional cofactor involved in the pathogenesis of type 2 diabetes. Diabetologia. 2006;49:1477–1488
  3. Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, et al. Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell. 1999;98:115–124
  4. Patti ME, Butte AJ, Crunkhorn S, Cusi K, Berria R, Kashyap S, et al. Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1. Proc. Natl. Acad. Sci. U.S.A. 2003;100:8466–8471
  5. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat. Genet. 2003;34:267–273
  6. Pratley RE, Thompson DB, Prochazka M, Baier L, Mott D, Ravussin E, et al. An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians. J. Clin. Invest. 1998;101:1757–1764
  7. Ek J, Andersen G, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, et al. Mutation analysis of peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to Type II diabetes mellitus. Diabetologia. 2001;44:2220–2226
  8. Andersen G, Hansen T, Gharani N, Frayling TM, Owen KR, Sampson M, et al. A common Gly482Ser polymorphism of PGC-1 is associated with Type 2 diabetes mellitus in two European population (abstract). Diabetes. 2002;51:A49
  9. Bhat A, Koul A, Rai E, Sharma S, Dhar MK, Bamezai RN. PGC-1alpha Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study. Hum. Genet. 2007;121:609–614
  10. Lacquemant C, Chikri M, Boutin P, Samson C, Froguel P. No association between the G482S polymorphism of the proliferator-activated receptor-gamma coactivator-1 (PGC-1) gene and Type II diabetes in French Caucasians. Diabetologia. 2002;45:602–603604
  11. Muller YL, Bogardus C, Pedersen O, Baier L. A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians. Diabetes. 2003;52:895–898
  12. Oberkofler H, Linnemayr V, Weitgasser R, Klein K, Xie M, Iglseder B, et al. Complex haplotypes of the PGC-1alpha gene are associated with carbohydrate metabolism and type 2 diabetes. Diabetes. 2004;53:1385–1393
  13. Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V, Schafer AJ, et al. Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes. Diabetologia. 2006;49:501–505
  14. Vimaleswaran KS, Radha V, Ghosh S, Majumder PP, Deepa R, Babu HN, et al. Peroxisome proliferator-activated receptor-gamma co-activator-1alpha (PGC-1alpha) gene polymorphisms and their relationship to Type 2 diabetes in Asian Indians. Diabet. Med. 2005;22:1516–1521
  15. Kim JH, Shin HD, Park BL, Cho YM, Kim SY, Lee HK, et al. Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population. Diabetologia. 2005;48:1323–1330
  16. Hara K, Tobe K, Okada T, Kadowaki H, Akanuma Y, Ito C, et al. A genetic variation in the PGC-1 gene could confer insulin resistance and susceptibility to Type II diabetes. Diabetologia. 2002;45:740–743
  17. Liu Y, Niu N, Zhu X, Du T, Wang X, Chen D, et al. Genetic variation and association analyses of the nuclear respiratory factor 1 (nRF1) gene in Chinese patients with type 2 diabetes. Diabetes. 2008;57:777–782
  18. Ling C, Del GS, Lupi R, Ronn T, Granhall C, Luthman H, et al. Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion. Diabetologia. 2008;51:615–622
  19. Elbein SC. Perspective: the search for genes for type 2 diabetes in the post-genome era. Endocrinology. 2002;143:2012–2018
  20. Puigserver P, Wu Z, Park CW, Graves R, Wright M, Spiegelman BM. A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell. 1998;92:829–839

PII: S0168-8227(09)00412-4

doi: 10.1016/j.diabres.2009.09.020

Diabetes Research and Clinical Practice
Volume 86, Issue 3 , Pages 168-172 , December 2009