Chromosome 11q13 and atopic asthma
Chromosome 11q13 and atopic asthma
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DOI：
10.1034/j.1399-0004.1999.550606.x
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发表时间：
1999-06-01
影响因子：
3.5
通讯作者：
Hopkin, JM
中科院分区：
文献类型：
--
作者：
Adra, CN;Mao, XQ;Hopkin, JM
哮喘是一种复杂的综合征，支气管炎症和平滑肌过度活跃导致不稳定的气流阻塞。最常见的哮喘形式是过敏性哮喘，这是一种免疫紊乱，吸入抗原产生IgE导致支气管粘膜炎症。哮喘的最终起源是相互作用的环境和遗传因素。遗传学被认为是异质的，一个感兴趣和争议的染色体区域是11q13。为了阐明染色体11q13在特应性哮喘和哮喘中作用的本质，我们在特应性哮喘患者和匹配对照组中进行了一项遗传关联研究，其中包括对距离为10-12 cM的13个遗传变异的研究，并考虑了详细的免疫和临床表型。与高IgE水平的关联仅限于D11S1335和CD20相邻的0.8 mb间隔，且Fc epsilon RI β和HTm4变体与高IgE水平的关联最大；这些变异也与哮喘有关（反复发作的喘息伴有不稳定的气流阻塞，需要定期吸入器治疗）。在更多的端粒标记，D11S480，变异与哮喘相关，但与高IgE水平无关。这些数据可能支持11q13染色体上存在与特应性哮喘相关的多个位点的可能性。
Asthma is a complex syndrome in which bronchial inflammation and smooth muscle hyperactivity lead to labile airflow obstruction. The commonest form of asthma is that due to atopy, which is an immune disorder where production of IgE to inhaled antigens leads to bronchial mucosal inflammation. The ultimate origins of asthma are interactive environmental and genetic factors. The genetics is acknowledged to be heterogeneous, and one chromosomal region of interest and controversy has been 11q13. To clarify the nature of the chromosome 11q13 effect in atopy and asthma, we conducted a genetic association study in subjects with marked atopic asthma and matched controls, which incorporated the study of 13 genetic variants over a distance of 10-12 cM and which took account of detailed immune and clinical phenotyping. Association with high IgE levels was limited to the interval flanked by D11S1335 and CD20 in a 0.8-Mb interval and was greatest for variants of Fc epsilon RI beta and HTm4; these variants also associated with asthma (recurrent wheeze with labile airflow obstruction and need for regular inhaler treatment). At the more telomeric marker, D11S480, variants associated with asthma, but not with high IgE levels. The data might support the possibility of multiple loci relevant to atopic asthma on chromosome 11q13.