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Article
Nature Genetics  7, 125 - 130 (1994)
doi:10.1038/ng0694-125

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

Taro Shirakawa1, 4, Airong Li1, Michael Dubowitz1, James W. Dekker1, Ann E. Shaw1, Jennie A. Faux1, Chisei Ra2, William O.C.M. Cookson1 & Julian M. Hopkin3

  1Nuffield Department of Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK

  2Department of Immunology, Juntendo University School of Medicine, Tokyo, Japan

  3Osler Chest Unit, Churchill Hospital, Oxford, OX3 7LJ, UK

  4Visiting Fellow from Department of Hygiene and Preventive Medicine, Osaka University, Japan

The beta−subunit of the high−affinity IgE receptor (FcepsilonRI−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 FcepsilonRI−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 FcepsilonRI−beta, subject to maternal modification, may be the atopy−causing locus on chromosome 11q.

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