The peroxisome proliferator-activated receptor gamma 2 Pro12Ala mutation is associated with early onset extreme obesity and reduced fasting glucose.
We screened the peroxisome proliferator activated receptor gamma 2 (PPAR gamma 2) for sequence variants in 165 unrelated obese (BMI >/= 30 kg/m(2)) Caucasian women, and 49 normal weight Caucasian female controls (BMI < 27 kg/m(2)). The allele frequency of the Pro12Ala mutation was higher in obese(18.18%) than in normal weight women (8. 16%) (chi(2)((1)) = 5.68, P = 0.017). Among obese women, the Pro12Ala mutation lowered age of obesity onset (Pro/Pro, 13.2 +/- 9. 4 years; Pro/Ala+Ala/Ala 8.6 +/- 7.1 years, P = 0.005), was associated with lower fasting glucose and was protective against type II diabetes.
Li
W D
WD
Center for Neurobiology & Behavior, University of Pennyslvania, Philadelphia, Pennsylvania, 19104, USA.
Lee
J H
JH
Price
R A
RA
D000328:Adult; D017668:Age of Onset; D000483:Alleles; D001786:Blood Glucose / Q000378:metabolism*; D004247:DNA / Q000032:analysis; D003924:Diabetes Mellitus, Type 2 / Q000517:prevention & control; D005260:Female; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D009767:Obesity, Morbid / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D044465:White People
D001786:Blood Glucose; D009687:Nuclear Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D004247:DNA