Genomic structure and mutations in adipose-specific gene, adiponectin

Int J Obes Relat Metab Disord. 2000 Jul;24(7):861-8. doi: 10.1038/sj.ijo.0801244.


Background: Adiponectin is a collagen-like plasma protein specifically synthesized in adipose tissue. Plasma adiponectin concentrations are decreased in obesity whereas it is adipose-specific.

Objective: To clarify the significance of the genetic variations in adiponectin gene on its plasma concentrations and obesity.

Subjects: Two hundred and nineteen unrelated adult Japanese subjects (123 men and 96 women, age: 20-83 y, BMI: 16-43 kg/m2) including 77 obese subjects (BMI>26.4 kg/m2).

Measurement: Human adiponectin gene was isolated from PAC DNA pools. Mutations in the adiponectin gene were screened by direct sequencing or restriction-fragment polymorphism. The levels of plasma adiponectin were determined by the enzyme-linked immunosorbent assay (ELISA).

Results: Adiponectin gene spanned 17 kb on chromosome 3q27, consisting of three exons and two introns. Within 2.1 kb of the 5'-flanking region, there were two octamer elements present in the promoter of adipsin. Two nucleotide changes were identified. One was a polymorphism (G/T) occurring in exon 2, and the other was a missense mutation (R112C) in exon 3. The mean plasma adiponectin levels of the subjects carrying G allele were low (G/G: 4.5 microg/ml; G/T: 5.9 microg/ml; and T/T: 6.3 microg/ml), but were not statistically significant. The allelic frequency between the obese and the non-obese showed no significant difference. The subject carrying R112C mutation showed markedly low concentration of plasma adiponectin.

Conclusion: Two nucleotide changes have been identified in the adiponectin gene. G/T polymorphism in exon 2 was associated with neither plasma adiponectin concentrations nor the presence of obesity. A subject carrying missense mutation (R112C) showed markedly low plasma adiponectin concentration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipocytes / chemistry
  • Adipocytes / metabolism
  • Adiponectin
  • Adipose Tissue / metabolism*
  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Body Mass Index
  • Chromosome Mapping
  • DNA, Complementary / chemistry
  • Enzyme-Linked Immunosorbent Assay
  • Exons / genetics
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Intercellular Signaling Peptides and Proteins*
  • Introns / genetics
  • Japan
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Obesity / genetics*
  • Promoter Regions, Genetic / genetics
  • Protein Biosynthesis
  • Proteins / analysis
  • Proteins / genetics*
  • Restriction Mapping


  • Adiponectin
  • DNA, Complementary
  • Intercellular Signaling Peptides and Proteins
  • Proteins