PMID- 10407229 OWN - NLM STAT- MEDLINE DCOM- 19990819 LR - 20190905 IS - 0804-4643 (Print) IS - 0804-4643 (Linking) VI - 141 IP - 1 DP - 1999 Jul TI - Missense variants in the human peroxisome proliferator-activated receptor-gamma2 gene in lean and obese subjects. PG - 90-2 AB - The peroxisome proliferator-activated receptor-gamma2 (PPARgamma2) 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 PPARgamma2 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 any of our obese or lean subjects, who are also of German origin. We conclude from our data that these two variants in the PPARgamma2 gene are unlikely to contribute to the high prevalence of early-onset obesity. FAU - Hamann, A AU - Hamann A AD - Medizinische Kernklinik und Poliklinik, Universitats-Krankenhaus Eppendorf, Hamburg, Germany. FAU - Munzberg, H AU - Munzberg H FAU - Buttron, P AU - Buttron P FAU - Busing, B AU - Busing B FAU - Hinney, A AU - Hinney A FAU - Mayer, H AU - Mayer H FAU - Siegfried, W AU - Siegfried W FAU - Hebebrand, J AU - Hebebrand J FAU - Greten, H AU - Greten H LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Eur J Endocrinol JT - European journal of endocrinology JID - 9423848 RN - 0 (Receptors, Cytoplasmic and Nuclear) RN - 0 (Transcription Factors) RN - EC 3.1.21.- (endodeoxyribonuclease HgaI) RN - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific) SB - IM MH - Adolescent MH - Child MH - Deoxyribonucleases, Type II Site-Specific MH - Humans MH - *Mutation, Missense MH - Obesity/*genetics MH - Polymerase Chain Reaction MH - Polymorphism, Restriction Fragment Length MH - Receptors, Cytoplasmic and Nuclear/*genetics MH - Transcription Factors/*genetics EDAT- 1999/07/17 00:00 MHDA- 1999/07/17 00:01 CRDT- 1999/07/17 00:00 PHST- 1999/07/17 00:00 [pubmed] PHST- 1999/07/17 00:01 [medline] PHST- 1999/07/17 00:00 [entrez] AID - 1410090 [pii] AID - 10.1530/eje.0.1410090 [doi] PST - ppublish SO - Eur J Endocrinol. 1999 Jul;141(1):90-2. doi: 10.1530/eje.0.1410090.