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Journal of Biomedicine and Biotechnology
Volume 2009, Article ID 126917, 7 pages
http://dx.doi.org/10.1155/2009/126917
Research Article

Characterization of a Novel Polymorphism in PPARG Regulatory Region Associated with Type 2 Diabetes and Diabetic Retinopathy in Italy

1Institute of Genetics and Biophysics “A. Buzzati-Traverso” (IGB), National Research Council (CNR), Via P. Castellino 111, 80131 Naples, Italy
2Department of Geriatrics and Metabolic Diseases, Second University of Naples, 80138 Naples, Italy
3Department of General Pathology, Second University of Naples, 80138 Naples, Italy
4Department of Neuroscience, “Federico II” University of Naples, 80131 Naples, Italy

Received 16 June 2008; Revised 11 September 2008; Accepted 1 November 2008

Academic Editor: Hatem El Shanti

Copyright © 2009 Valerio Costa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. G. A. Francis, E. Fayard, F. Picard, and J. Auwerx, “Nuclear receptors and the control of metabolism,” Annual Review of Physiology, vol. 65, pp. 261–311, 2003. View at Publisher · View at Google Scholar
  2. R. Mukherjee, L. Jow, G. E. Croston, and J. R. Paterniti Jr., “Identification, characterization, and tissue distribution of human peroxisome proliferator-activated receptor (PPAR) isoforms PPARγ2 versus PPARγ1 and activation with retinoid X receptor agonists and antagonists,” The Journal of Biological Chemistry, vol. 272, no. 12, pp. 8071–8076, 1997. View at Publisher · View at Google Scholar
  3. L. Sabatino, A. Casamassimi, G. Peluso et al., “A novel peroxisome proliferator-activated receptor ? isoform with dominant negative activity generated by alternative splicing,” The Journal of Biological Chemistry, vol. 280, no. 28, pp. 26517–26525, 2005. View at Publisher · View at Google Scholar
  4. E. D. Rosen and B. M. Spiegelman, “PPARγ: a nuclear regulator of metabolism, differentiation, and cell growth,” The Journal of Biological Chemistry, vol. 276, no. 41, pp. 37731–37734, 2001. View at Publisher · View at Google Scholar
  5. S. J. Hasstedt, Q.-F. Ren, K. Teng, and S. C. Elbein, “Effect of the peroxisome proliferator-activated receptor-γ2 Pro12Ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds,” The Journal of Clinical Endocrinology & Metabolism, vol. 86, no. 2, pp. 536–541, 2001. View at Publisher · View at Google Scholar
  6. C.-J. Yen, B. A. Beamer, C. Negri et al., “Molecular scanning of the human peroxisome proliferator activated receptor ? (hPPAR?) gene in diabetic Caucasians: identification of a Pro12Ala PPAR?2 missense mutation,” Biochemical and Biophysical Research Communications, vol. 241, no. 2, pp. 270–274, 1997. View at Publisher · View at Google Scholar
  7. R. K. Semple, V. K. K. Chatterjee, and S. O'Rahilly, “PPARγ and human metabolic disease,” The Journal of Clinical Investigation, vol. 116, no. 3, pp. 581–589, 2006. View at Publisher · View at Google Scholar
  8. J. Masugi, Y. Tamori, H. Mori, T. Koike, and M. Kasuga, “Inhibitory effect of a proline-to-alanine substitution at codon 12 of peroxisome proliferator-activated receptor-γ 2 on thiazolidinedione-induced adipogenesis,” Biochemical and Biophysical Research Communications, vol. 268, no. 1, pp. 178–182, 2000. View at Publisher · View at Google Scholar
  9. C. Knouff and J. Auwerx, “Peroxisome proliferator-activated receptor-γ calls for activation in moderation: lessons from genetics and pharmacology,” Endocrine Reviews, vol. 25, no. 6, pp. 899–918, 2004. View at Publisher · View at Google Scholar
  10. L. Andrulionytè, J. Zacharova, J.-L. Chiasson, and M. Laakso, “Common polymorphisms of the PPAR-γ2 (Pro12Ala) and PGC-1α (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial,” Diabetologia, vol. 47, no. 12, pp. 2176–2184, 2004. View at Publisher · View at Google Scholar
  11. B. Zietz, N. Barth, D. Spiegel, G. Schmitz, J. Schölmerich, and A. Schäffler, “Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-γ2 (PPARγ2) is associated with higher levels of total cholesterol and LDL-cholesterol in male caucasian type 2 diabetes patients,” Experimental and Clinical Endocrinology & Diabetes, vol. 110, no. 2, pp. 60–66, 2002. View at Publisher · View at Google Scholar
  12. M. L. Caramori, L. H. Canani, L. A. Costa, and J. L. Gross, “The human peroxisome proliferator-activated receptor γ2 (PPARγ2) Pro12Ala polymorphism is associated with decreased risk of diabetic nephropathy in patients with type 2 diabetes,” Diabetes, vol. 52, no. 12, pp. 3010–3013, 2003. View at Publisher · View at Google Scholar
  13. M. G. Petrovič, T. Kunej, B. Peterlin, P. Dovč, and D. Petrovič, “Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-γ coactivator-1 gene might be a risk factor for diabetic retinopathy in Slovene population (Caucasians) with type 2 diabetes and the Pro12Ala polymorphism of the PPARγ gene is not,” Diabetes/Metabolism Research and Reviews, vol. 21, no. 5, pp. 470–474, 2005. View at Publisher · View at Google Scholar
  14. Y. Sassa, Y. Hata, L. P. Aiello, Y. Taniguchi, K. Kohno, and T. Ishibashi, “Bifunctional properties of peroxisome proliferator-activated receptor γ1 in KDR gene regulation mediated via interaction with both Sp1 and Sp3,” Diabetes, vol. 53, no. 5, pp. 1222–1229, 2004. View at Publisher · View at Google Scholar
  15. A. Meirhaeghe and P. Amouyel, “Impact of genetic variation of PPARγ in humans,” Molecular Genetics and Metabolism, vol. 83, no. 1-2, pp. 93–102, 2004. View at Publisher · View at Google Scholar
  16. Y. L. Muller, C. Bogardus, B. A. Beamer, A. R. Shuldiner, and L. J. Baier, “A functional variant in the peroxisome proliferator-activated receptor γ2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians,” Diabetes, vol. 52, no. 7, pp. 1864–1871, 2003. View at Publisher · View at Google Scholar
  17. V. Costa, I. Conte, C. Ziviello et al., “Identification and expression analysis of novel Jakmip1 transcripts,” Gene, vol. 402, no. 1-2, pp. 1–8, 2007. View at Publisher · View at Google Scholar
  18. World Health Organization, “Diabetes mellitus: report of a WHO Study Group,” Tech. Rep. 727, World Health Organization, Geneva, Switzerland, 1985. View at Google Scholar
  19. P. D. Sasieni, “From genotypes to genes: doubling the sample size,” Biometrics, vol. 53, no. 4, pp. 1253–1261, 1997. View at Publisher · View at Google Scholar
  20. A. S. F. Doney, B. Fischer, J. E. Cecil et al., “Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to type 2 diabetes,” Diabetologia, vol. 47, no. 3, pp. 555–558, 2004. View at Publisher · View at Google Scholar
  21. S.-M. Herrmann, J. Ringel, J.-G. Wang, J. A. Staessen, and E. Brand, “Peroxisome proliferator-activated receptor-γ2 polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes: The Berlin Diabetes Mellitus (BeDiaM) Study,” Diabetes, vol. 51, no. 8, pp. 2653–2657, 2002. View at Publisher · View at Google Scholar
  22. D. Altshuler, J. N. Hirschhorn, M. Klannemark et al., “The common PPAR? Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes,” Nature Genetics, vol. 26, no. 1, pp. 76–80, 2000. View at Publisher · View at Google Scholar
  23. R. Valve, K. Sivenius, R. Miettinen et al., “Two polymorphisms in the peroxisome proliferator-activated receptor-? gene are associated with severe overweight among obese women,” The Journal of Clinical Endocrinology & Metabolism, vol. 84, no. 10, pp. 3708–3712, 1999. View at Google Scholar
  24. J. K. Wittke-Thompson, A. Pluzhnikov, and N. J. Cox, “Rational inferences about departures from Hardy-Weinberg equilibrium,” American Journal of Human Genetics, vol. 76, no. 6, pp. 967–986, 2005. View at Publisher · View at Google Scholar
  25. T. Yamauchi, J. Kamon, H. Waki et al., “The mechanisms by which both heterozygous peroxisome proliferator-activated receptor ? (PPAR?) deficiency and PPAR? agonist improve insulin resistance,” The Journal of Biological Chemistry, vol. 276, no. 44, pp. 41245–41254, 2001. View at Publisher · View at Google Scholar
  26. D. Bonofiglio, S. Gabriele, S. Aquila et al., “Estrogen receptor a binds to peroxisome proliferator-activated receptor response element and negatively interferes with peroxisome proliferator-activated receptor ? signaling in breast cancer cells,” Clinical Cancer Research, vol. 11, no. 17, pp. 6139–6147, 2005. View at Publisher · View at Google Scholar
  27. H. A. Pershadsingh and D. M. Moore, “PPARγ agonists: potential as therapeutics for neovascular retinopathies,” PPAR Research, vol. 2008, Article ID 164273, 13 pages, 2008. View at Publisher · View at Google Scholar
  28. K. Muranaka, Y. Yanagi, Y. Tamaki et al., “Effects of peroxisome proliferator-activated receptor ? and its ligand on blood-retinal barrier in a streptozotocin-induced diabetic model,” Investigative Ophthalmology and Visual Science, vol. 47, no. 10, pp. 4547–4552, 2006. View at Publisher · View at Google Scholar
  29. J. Kim, Y.-S. Oh, and S.-H. Shinn, “Troglitazone reverses the inhibition of nitric oxide production by high glucose in cultured bovine retinal pericytes,” Experimental Eye Research, vol. 81, no. 1, pp. 65–70, 2005. View at Publisher · View at Google Scholar
  30. T.-H. Chao, Y.-H. Li, J.-H. Chen et al., “The 161TT genotype in the exon 6 of the peroxisome-proliferator-activated receptor ? gene is associated with premature acute myocardial infarction and increased lipid peroxidation in habitual heavy smokers,” Clinical Science, vol. 107, no. 5, pp. 461–466, 2004. View at Publisher · View at Google Scholar