Missense variants in the human peroxisome proliferator-activated receptor-γ2 gene in lean and obese subjects

The peroxisome proliferator-activated receptor-gamma 2 (PPAR gamma 2) is almost uniquely expressed in adipose tissue and is of major importance for fat cell differentiation and lipid metabolism This study was undertaken to assess whether two missense variants in the PPAR gamma 2 gene are associated with early-onset obesity. A previously described polymorphism encoding for an amino acid exchange in codon 12 (Pro12Ala) was detected with allele frequencies of 0.13 in 296 markedly obese children and adolescents and 0.14 in 130 lean individuals. A Pro115Gln variant, which had been linked to obesity in Germans in a previous association study, was not detected in ally of our obese or lean subjects, who are also of German origin. We conclude from our data that these two variants in the PPAR gamma 2 gene are unlikely to contribute to the high prevalence of early-onset obesity.