Identification of a deletion variant in the gene encoding the human alpha(2A)-adrenergic receptor

Eur J Endocrinol. 2001 Mar;144(3):291-5. doi: 10.1530/eje.0.1440291.

Abstract

Objective: The alpha(2)-adrenergic receptors are involved in the effects of catecholamines on energy metabolism. Of three known subtypes with differential expression, alpha(2A)-adrenergic receptors are also localized in adipose tissue where they counteract the lipolytic activity of beta-adrenergic receptors. This study was undertaken to assess whether variants in the alpha(2A)-adrenergic receptor gene are associated with body weight.

Design and methods: Single strand conformation polymorphism (SSCP) screening and subsequent sequencing were applied to determine genetic variants in DNA samples from individuals with obesity, those of normal weight and those underweight.

Results: Analysis of the coding region resulted in the identification of an 18 bp deletion, with no other mutation found. Of 429 genotyped subjects, 7 carried the deletion, with no significant differences between lean and obese subjects. A previously identified polymorphism in the promoter of the alpha(2A)-adrenergic receptor gene also did not show an association with any of the tested body weight categories.

Conclusion: Our data suggest that variants in the alpha(2A)-adrenergic receptor gene are unlikely to contribute to the predisposition for the lean or obese state.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Body Mass Index
  • Body Weight / genetics*
  • Child
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Obesity / genetics
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic / genetics
  • Receptors, Adrenergic, alpha-2 / genetics*
  • Sequence Deletion / genetics*
  • Thinness / genetics

Substances

  • ADRA2A protein, human
  • Receptors, Adrenergic, alpha-2