A genetic variant at the fatty acid-binding protein aP2 locus reduces the risk for hypertriglyceridemia, type 2 diabetes, and cardiovascular disease

Proc Natl Acad Sci U S A. 2006 May 2;103(18):6970-5. doi: 10.1073/pnas.0602178103. Epub 2006 Apr 25.

Abstract

Obesity and the associated pathologies including dyslipidemia, insulin resistance, type 2 diabetes, and cardiovascular disease constitute a major threat to global human health. Yet, the genetic factors that differentially predispose individuals to this cluster of pathologies are unclear. The fatty acid-binding protein aP2 is a cytoplasmic lipid chaperon expressed in adipocytes and macrophages. Mice with aP2 deficiency are partially resistant to obesity-induced insulin resistance and type 2 diabetes, have lower circulating triglycerides, and exhibit marked protection against atherosclerosis. Here, we demonstrate a functionally significant genetic variation at the aP2 locus in humans that results in decreased adipose tissue aP2 expression due to alteration of the CAAT box/enhancer-binding protein binding and reduced transcriptional activity of the aP2 promoter. In population genetic studies with 7,899 participants, individuals that carry this T-87C polymorphism had lower serum triglyceride levels and significantly reduced risk for coronary heart disease and type 2 diabetes compared with subjects homozygous for the WT allele. Taken together, our results indicate that reduction in aP2 activity in humans generate a metabolically favorable phenotype that is similar to aP2 deficiency in experimental models.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / physiology
  • Adult
  • Animals
  • Base Sequence
  • CCAAT-Enhancer-Binding Protein-alpha / metabolism
  • Cardiovascular Diseases / genetics*
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • Fatty Acid-Binding Proteins / chemistry
  • Fatty Acid-Binding Proteins / genetics*
  • Fatty Acid-Binding Proteins / metabolism*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypertriglyceridemia / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Obesity / complications
  • Obesity / epidemiology
  • Obesity / genetics
  • Odds Ratio
  • Phenotype
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic
  • Prospective Studies
  • Protein Binding
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Transcription, Genetic
  • Triglycerides / blood

Substances

  • CCAAT-Enhancer-Binding Protein-alpha
  • Fatty Acid-Binding Proteins
  • Protein Isoforms
  • Triglycerides