beta2-Adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma

Am J Respir Crit Care Med. 1998 Sep;158(3):787-91. doi: 10.1164/ajrccm.158.3.9801035.

Abstract

Excess beta2-agonist use in asthmatics has been associated with increased mortality and morbidity. The mechanisms responsible for these observations are unknown. We hypothesized that polymorphisms of the beta2-adrenergic receptor (beta2AR) at amino acid positions 16, 27, and 164, which are known to alter receptor functions in vitro, may predispose asthmatics to fatal/near-fatal asthma and/or modify asthma severity. In preliminary studies we found significant differences in allele frequencies due to ethnic background: Caucasian, Black, Asian Gly16 = 0.61, 0.50, 0.40 and Gln27 = 0.57, 0. 73, 0.80, respectively. beta2AR genotyping was performed on DNA from Caucasians classified as nonasthmatic/nonatopic (n = 84), fatal/near-fatal asthmatics (n = 81) and mild/moderate asthmatics (n = 86). No polymorphism or haplotype was found to be associated with fatal/near-fatal asthma. However, the Gly16/Gln27 haplotype, which undergoes enhanced downregulation in vitro, was substantially more prevalent in moderate asthmatics than in mild asthmatics (p = 0.003, odds ratio = 3.1). We conclude that the beta2AR genotype is not a major determinant of fatal or near-fatal asthma. Furthermore, allele frequency variation among ethnic groups must be considered in clinical studies of beta2AR polymorphisms in asthma.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adrenergic beta-Agonists / adverse effects
  • Adult
  • Alleles
  • Amino Acids / genetics
  • Anti-Asthmatic Agents / adverse effects
  • Asian People / genetics
  • Asthma / classification
  • Asthma / drug therapy
  • Asthma / genetics*
  • Black People / genetics
  • Cause of Death
  • DNA / genetics
  • Down-Regulation / genetics
  • Ethnicity
  • Gene Frequency
  • Genetic Variation / genetics
  • Genotype
  • Glutamine / genetics
  • Glycine / genetics
  • Haplotypes / genetics*
  • Humans
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Genetic / genetics
  • Prevalence
  • Receptors, Adrenergic, beta / genetics*
  • Risk Factors
  • White People / genetics

Substances

  • Adrenergic beta-Agonists
  • Amino Acids
  • Anti-Asthmatic Agents
  • Receptors, Adrenergic, beta
  • Glutamine
  • DNA
  • Glycine