Association between atopy and variants of the beta subunit of the high-affinity immunoglobulin E receptor

Nat Genet. 1994 Jun;7(2):125-9. doi: 10.1038/ng0694-125.


The beta-subunit of the high-affinity IgE receptor (Fc epsilon RI-beta) on chromosome 11 is maternally linked to atopy, the state of enhanced IgE responsiveness underlying allergic asthma and rhinitis. We have identified a common variant of Fc epsilon RI-beta, lle181Leu within the 4th transmembrane domain. Leu181 shows significant association with positive IgE responses in a random patient sample. Amongst 60 unrelated nuclear families with allergic asthmatic probands, Leu181 is identified in 10 (17%), is maternally inherited in each, and shows a strong association with atopy. Our data indicate that Fc epsilon RI-beta, subject to maternal modification, may be the atopy-causing locus on chromosome 11q.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 11
  • DNA / genetics
  • Female
  • Genetic Variation
  • Humans
  • Hypersensitivity, Immediate / genetics*
  • Hypersensitivity, Immediate / immunology*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Receptors, IgE / chemistry
  • Receptors, IgE / genetics*


  • Receptors, IgE
  • DNA