Molecular Scanning of the Human Peroxisome Proliferator Activated Receptor γ (hPPARγ) Gene in Diabetic Caucasians: Identification of a Pro12Ala PPARγ2 Missense Mutation

摘要: Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism insulin sensitivity. As such, PPAR gamma promising candidate gene for several human disorders including obesity type 2 diabetes mellitus. Screening mutations in the entire coding region of (both 1 isoforms) was performed with DNA 26 diabetic Caucasians or without obesity. Two base substitutions were identified: silent mutation at nucleotide 1431 (CACHis-->CATHis) missense (CCGPro-->GCGAla) codon 12 2. The allele frequency Pro12Ala variant 0.12 Caucasian Americans, 0.10 Mexican 0.08 Samoans, 0.03 African 0.02 Nauruans, 0.01 Chinese. We conclude present diverse populations. Further studies will determine its relevance to obesity, resistance, diabetes.