Hill M R, James A L, Faux J A, Ryan G, Hopkin J M, le Söuef P, Musk A W, Cookson W O
Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital.
BMJ. 1995 Sep 23;311(7008):776-9. doi: 10.1136/bmj.311.7008.776.
To establish the prevalence of Fc epsilon RI-beta polymorphisms Leu181 and Leu181/Leu183 on chromosome 11q13 in the general population and to examine whether when maternally inherited they confer a risk of atopy.
A population based survey for measures of atopy (skin prick test reactions, specific IgE titres, total serum IgE concentration), bronchial hyperresponsiveness, and carriage of Fc epsilon RI-beta Leu181 and Leu181/Leu183.
The rural coastal town of Busselton, Western Australia.
1004 members of 230 two generation families identified through adults aged under 55.
Fc epsilon RI-beta Leu181/Leu183 was identified in 45 subjects (4.5%). All 13 children who had inherited the variant maternally were atopic. Six had asthma and nine rhinitis. The odds ratio of a positive skin prick test reaction to house dust mite or grass pollen in these children compared with the other 523 children was 7.37 (95% confidence interval 1.62 to 33.60). The 95% confidence interval for the odds ratio of a positive specific IgE response (radio-allergosorbent test) was 3.00 to infinity, and the odds ratio for bronchial hyperresponsiveness was 3.70 (1.21 to 11.60). By contrast, the eight children who had derived the variant paternally had negative skin prick and radioallergosorbent test results and did not have increased bronchial responsiveness.
Fc epsilon RI"' beta Leu181/Leu183 when inherited maternally identifies a genetic risk factor for atopy and bronchial hyperresponsiveness.
确定11号染色体q13上FcεRI-β多态性Leu181和Leu181/Leu183在普通人群中的患病率，并研究当它们通过母系遗传时是否会增加患特应性疾病的风险。
一项基于人群的调查，测量特应性指标（皮肤点刺试验反应、特异性IgE滴度、血清总IgE浓度）、支气管高反应性以及FcεRI-β Leu181和Leu181/Leu183的携带情况。
西澳大利亚州的农村沿海城镇巴瑟尔顿。
通过55岁以下成年人确定的230个两代家庭中的1004名成员。
在45名受试者（4.5%）中发现了FcεRI-β Leu181/Leu183。所有13名通过母系遗传该变异的儿童都患有特应性疾病。其中6名患有哮喘，9名患有鼻炎。与其他523名儿童相比，这些儿童对屋尘螨或草花粉皮肤点刺试验呈阳性反应的比值比为7.37（95%置信区间为1.62至33.60）。特异性IgE阳性反应（放射变应原吸附试验）的比值比95%置信区间为3.00至无穷大，支气管高反应性的比值比为3.70（1.21至11.60）。相比之下，8名通过父系遗传该变异的儿童皮肤点刺试验和放射变应原吸附试验结果均为阴性，且支气管反应性未增加。
FcεRI-β Leu181/Leu183通过母系遗传时，可确定为特应性疾病和支气管高反应性的遗传危险因素。
