Shirakawa T, Li A, Dubowitz M, Dekker J W, Shaw A E, Faux J A, Ra C, Cookson W O, Hopkin J M
Nuffield Department of Medicine, John Radcliffe Hospital, Oxford, UK.
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.
位于11号染色体上的高亲和力IgE受体的β亚基（FcεRI-β）与特应性呈母系连锁，特应性是过敏性哮喘和鼻炎背后IgE反应性增强的状态。我们在第4个跨膜结构域内鉴定出FcεRI-β的一个常见变体Ile181Leu。在一个随机抽取的患者样本中，Leu181与阳性IgE反应显著相关。在60个患有过敏性哮喘先证者的无关核心家庭中，有10个（17%）被鉴定出携带Leu181，每个家庭中Leu181均为母系遗传，并且与特应性呈强关联。我们的数据表明，受母体修饰影响的FcεRI-β可能是11q染色体上导致特应性的基因座。
