title: The difference of mutation in the peroxisome proliferator activated receptor gamma2 gene among people at high altitudes and low altitudes in Bolivia.
abstract: Peroxisome proliferator activated receptor (PPAR) gamma is present in two isoforms generated by alternative splicing, PPAR gamma 1 and PPAR gamma 2. A Pro12Ala polymorphism in human PPAR gamma 2 moderately reduces its transcriptional activity, and thus PPAR gamma 2 is thought to be a promising candidate gene for several human disorders, including obesity and type 2 diabetes mellitus. In this report, we examined the polymorphism of the PPAR gamma 2 gene in people at high and low altitudes in Bolivia, and found a significant difference in the frequency of Ala carriers (Pro/Ala and Ala/Ala) between 153 native high-altitude Bolivian subjects (64.1%) and 288 low-altitude Bolivian subjects (37.9%). The frequency of this Ala allele in Bolivian subjects was fairly higher than that in other ethnic groups. As body mass index, however, was not associated with Pro12Ala polymorphism of the PPAR gamma 2 gene among either the high altitude Bolivians or low altitude Bolivians, Pro12Ala polymorphism of the gene has little relationship to obesity in Bolivians.
authors.affiliation: Department of Medical Technology 1, School of Health Sciences, University of Occupational and Environmental Health, Yahatanishi-ku, Kitakyushu 807- 8555, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Karasaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kashiwazaki
mesh_terms: D000531:Altitude; D001838:Bolivia; D006579:Heterozygote; D009154:Mutation; D009765:Obesity / Q000235:genetics; D047495:PPAR gamma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D047495:PPAR gamma