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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.

Abstract

Peroxisome proliferator-activated receptor gamma polymorphisms have been widely associated with type 2 diabetes, although their role in the pathogenesis of vascular complications is not yet demonstrated. In this study, a cohort of 211 type 2 diabetes, 205 obese, and 254 control individuals was genotyped for Pro12Ala, C1431T, C-2821T polymorphisms, and for a newly identified polymorphism (A-2819G). The above-mentioned polymorphisms were analyzed by gene-specific PCR and direct sequencing of all samples. A significant difference was found for -2819G frequency when patients with type 2 diabetes—particularly diabetic women with the proliferative retinopathy—were compared with healthy control individuals. In conclusion, we identified a novel polymorphism, A-2819G, in PPARG gene, and we found it to be associated with type 2 diabetes and proliferative retinopathy in diabetic females. In the analyzed population, this variant represents a genetic risk factor for developing the diabetic retinopathy, whereas Pro12Ala and C1431T do not.