ASSOCIATION BETWEEN ATOPY AND VARIANTS OF THE BETA-SUBUNIT OF THE HIGH-AFFINITY IMMUNOGLOBULIN-E RECEPTOR
ASSOCIATION BETWEEN ATOPY AND VARIANTS OF THE BETA-SUBUNIT OF THE HIGH-AFFINITY IMMUNOGLOBULIN-E RECEPTOR
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DOI：
10.1038/ng0694-125
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发表时间：
1994-06-01
期刊：
影响因子：
30.8
通讯作者：
HOPKIN, JM
中科院分区：
文献类型：
--
作者：
SHIRAKAWA, T;LI, AR;HOPKIN, JM
11号染色体上高亲和力IgE受体的β亚基(Fc epsilon RI-beta)与特应性相关，特应性是导致过敏性哮喘和鼻炎的IgE反应性增强的状态。我们已经在第4跨膜结构域中发现了Fc epsilon RI-beta的一个常见变体lle181Leu。在随机的患者样本中，Leu181与阳性的IgE反应显著相关。在60个无血缘关系的过敏性哮喘先证者核心家庭中，发现10个(17%)Leu181是母系遗传的，并显示出与特应性密切相关。我们的数据表明，Fc epsilon RI-beta可能是染色体11q上的特应性致病基因。
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.