title: The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes.
abstract: OBJECTIVE
  Peroxisome-proliferator-activated receptors gamma (PPAR gamma), is a key regulator of adipocyte differentiation and energy balance. Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala, have recently been shown to impair the function of the PPAR gamma2 isoform of the receptor and to be associated with obesity or diabetes-related phenotypes in different populations.
  
  
  METHODS
  We studied the occurrence and possible associations of the Pro115Gln and Pro12Ala in the PPAR gamma2 gene with several clinical and metabolic phenotypes in three independent large populations of non-obese non-diabetic, type 2 diabetic, and morbidly obese French Caucasians.
  
  
  RESULTS
  The Pro115Gln mutation was not found in any of the 1069 subjects screened including 626 obese patients. The frequency of the Pro12Ala mutation was similar in all groups (0.08, 0.11, 0.09) and was not associated with BMI or any of the clinical parameters tested.
  
  
  CONCLUSIONS
  We conclude that the Pro115Gln mutation is not a frequent cause of morbid obesity in Caucasians and that the Pro12Ala mutation is not associated with clinically significant changes in these populations.
authors.affiliation: Laboratoire de Nutrition et Service de Médecine et Nutrition, Hôtel-Dieu place du Parvis Notre Dame, Paris, France. karine.clement@htd.ap-hop-paris.fr
authors.forename: K
authors.initials: K
authors.lastname: Clement
authors.forename: S
authors.initials: S
authors.lastname: Hercberg
authors.forename: B
authors.initials: B
authors.lastname: Passinge
authors.forename: P
authors.initials: P
authors.lastname: Galan
authors.forename: M
authors.initials: M
authors.lastname: Varroud-Vial
authors.forename: A R
authors.initials: AR
authors.lastname: Shuldiner
authors.forename: B A
authors.initials: BA
authors.lastname: Beamer
authors.forename: G
authors.initials: G
authors.lastname: Charpentier
authors.forename: B
authors.initials: B
authors.lastname: Guy-Grand
authors.forename: P
authors.initials: P
authors.lastname: Froguel
authors.forename: C
authors.initials: C
authors.lastname: Vaisse
mesh_terms: D000328:Adult; D000368:Aged; D000409:Alanine; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005838:Genotype; D005973:Glutamine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009767:Obesity, Morbid / Q000235:genetics*; D011392:Proline; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D005973:Glutamine; D011392:Proline; D000409:Alanine