title: Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy.
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.
authors.affiliation: Institute of Genetics and Biophysics A. Buzzati-Traverso (IGB), National Research Council (CNR), Naples, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Costa
authors.forename: Amelia
authors.initials: A
authors.lastname: Casamassimi
authors.forename: Katherine
authors.initials: K
authors.lastname: Esposito
authors.forename: Angela
authors.initials: A
authors.lastname: Villani
authors.forename: Mariaelena
authors.initials: M
authors.lastname: Capone
authors.forename: Rosa
authors.initials: R
authors.lastname: Iannella
authors.forename: Bruno
authors.initials: B
authors.lastname: Schisano
authors.forename: Miryam
authors.initials: M
authors.lastname: Ciotola
authors.forename: Carmen
authors.initials: C
authors.lastname: Di Palo
authors.forename: Feliciantonia Capone
authors.initials: FC
authors.lastname: Corrado
authors.forename: Franco
authors.initials: F
authors.lastname: Santangelo
authors.forename: Dario
authors.initials: D
authors.lastname: Giugliano
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
mesh_terms: 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
chemical_list: D006442:Glycated Hemoglobin; D047495:PPAR gamma; C517652:hemoglobin A1c protein, human