Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy

J Biomed Biotechnol. 2009:2009:126917. doi: 10.1155/2009/126917. Epub 2008 Dec 25.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Body Mass Index
  • Chi-Square Distribution
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Retinopathy / genetics*
  • Female
  • Gene Expression Regulation
  • Glycated Hemoglobin / genetics
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Obesity / genetics
  • PPAR gamma / genetics*
  • Polymorphism, Single Nucleotide*
  • Regression Analysis
  • Regulatory Sequences, Nucleic Acid

Substances

  • Glycated Hemoglobin A
  • PPAR gamma
  • hemoglobin A1c protein, human