T. Shirakawa et al., ASSOCIATION BETWEEN ATOPY AND VARIANTS OF THE BETA-SUBUNIT OF THE HIGH-AFFINITY IMMUNOGLOBULIN-E RECEPTOR, Nature genetics, 7(2), 1994, pp. 125-130
The beta-subunit of the high-affinity IgE receptor (Fc epsilon RI-beta
) on chromosome 11 is maternally linked to atopy, the state of enhance
d IgE responsiveness underlying allergic asthma and rhinitis. We have
identified a common variant of Fc epsilon RI-beta, lle181Leu within th
e 4th transmembrane domain. Leu181 shows significant association with
positive IgE responses in a random patient sample. Amongst 60 unrelate
d nuclear families with allergic asthmatic probands, Leu181 is identif
ied in 10 (17%), is maternally inherited in each, and shows a strong a
ssociation with atopy. Our data indicate that Fc epsilon RI-beta, subj
ect to maternal modification, may be the atopy-causing locus on chromo
some 11q.