Uncoupling protein 2 gene polymorphisms are associated with obesity

Cardiovasc Diabetol. 2012 Apr 25;11:41. doi: 10.1186/1475-2840-11-41.


Background: Uncoupling protein 2 (UCP2) gene polymorphisms have been reported as genetic risk factors for obesity and type 2 diabetes mellitus (T2DM). We examined the association of commonly observed UCP2 G(-866)A (rs659366) and Ala55Val (C > T) (rs660339) single nucleotide polymorphisms (SNPs) with obesity, high fasting plasma glucose, and serum lipids in a Balinese population.

Methods: A total of 603 participants (278 urban and 325 rural subjects) were recruited from Bali Island, Indonesia. Fasting plasma glucose (FPG), triglyceride (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) were measured. Obesity was determined based on WHO classifications for adult Asians. Participants were genotyped for G(-866)A and Ala55Val polymorphisms of the UCP2 gene.

Results: Obesity prevalence was higher in urban subjects (51%) as compared to rural subjects (23%). The genotype, minor allele (MAF), and heterozygosity frequencies were similar between urban and rural subjects for both SNPs. All genotype frequencies were in Hardy-Weinberg equilibrium. A combined analysis of genotypes and environment revealed that the urban subjects carrying the A/A genotype of the G(-866)A SNP have higher BMI than the rural subjects with the same genotype. Since the two SNPs showed strong linkage disequilibrium (D' = 0.946, r2 = 0.657), a haplotype analysis was performed. We found that the AT haplotype was associated with high BMI only when the urban environment was taken into account.

Conclusions: We have demonstrated the importance of environmental settings in studying the influence of the common UCP2 gene polymorphisms in the development of obesity in a Balinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics
  • Biomarkers / blood
  • Blood Glucose / analysis
  • Cross-Sectional Studies
  • Female
  • Gene Frequency
  • Gene-Environment Interaction
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Indonesia / epidemiology
  • Ion Channels / genetics*
  • Linkage Disequilibrium
  • Lipids / blood
  • Logistic Models
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Obesity / blood
  • Obesity / ethnology
  • Obesity / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Risk Assessment
  • Risk Factors
  • Rural Health / ethnology
  • Uncoupling Protein 2
  • Urban Health / ethnology


  • Biomarkers
  • Blood Glucose
  • Ion Channels
  • Lipids
  • Mitochondrial Proteins
  • UCP2 protein, human
  • Uncoupling Protein 2