Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy.
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.
Costa
Valerio
V
Institute of Genetics and Biophysics A. Buzzati-Traverso (IGB), National Research Council (CNR), Naples, Italy.
Casamassimi
Amelia
A
Esposito
Katherine
K
Villani
Angela
A
Capone
Mariaelena
M
Iannella
Rosa
R
Schisano
Bruno
B
Ciotola
Miryam
M
Di Palo
Carmen
C
Corrado
Feliciantonia Capone
FC
Santangelo
Franco
F
Giugliano
Dario
D
Ciccodicola
Alfredo
A
D000368:Aged; D015992:Body Mass Index; D016009:Chi-Square Distribution; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006442:Glycated Hemoglobin / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics; D047495:PPAR gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis; D012045:Regulatory Sequences, Nucleic Acid
D006442:Glycated Hemoglobin; D047495:PPAR gamma; C517652:hemoglobin A1c protein, human