The genetic basis of atopic asthma

The genetic basis of atopic asthma
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特应性哮喘的遗传基础

DOI:
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发表时间:
1999
影响因子:
6.1
通讯作者:
S. T. Holgate
S. T. Holgate
中科院分区:
医学2区
文献类型:
--
作者:
John W. Holloway;Bianca Beghé;S. T. Holgate

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哮喘是一种呼吸道疾病,其特征是反复出现呼吸道症状、可逆性可变气道阻塞、气道炎症和气道反应性增加[1]。特应性是一种涉及免疫球蛋白 E (IgE) 抗体对普遍存在的过敏原产生反应的疾病,通常与哮喘相关。由于其复杂的临床表型,哮喘的遗传基础可以使用可以客观测量的中间表型或替代表型来研究,例如特应性或支气管高反应性(BHR)的存在,尽管这些并不是哮喘所特有的。此外,尽管特应性、支气管高反应性和哮喘之间存在密切关系[2-4],但它们不可互换:大多数哮喘患者是特应性的,但特应性受试者可能没有支气管高反应性或哮喘症状,而患有支气管高反应性的受试者可能不是特应性或哮喘(见图1)。表型可以通过多种方式定义,包括主观测量(例如症状)、客观测量(例如 BHR 或血清 IgE 水平)或两者兼而有之。正是哮喘表型缺乏明确的定义,在审查哮喘和特应性遗传基础的研究时出现了最大的问题,不同的研究中使用了相同中间表型的多种定义。
Asthma is a respiratory disease characterized by recurrent respiratory symptoms, reversible variable airway obstruction, airway inflammation and increased airway responsiveness [1]. Atopy is a disorder involving immunoglobulin E (IgE) antibody responses to ubiquitous allergens, and is commonly associated with asthma. Because of its complex clinical phenotype, the genetic basis of asthma can be studied using intermediate or surrogate phenotypes that can be measured objectively, such as the presence of atopy or bronchial hyperresponsiveness (BHR), although these are not specific to asthma. Furthermore, despite the close relationship between atopy, bronchial hyperresponsiveness and asthma [2–4], they are not interchangeable: most asthmatics are atopic, but atopic subjects may not have bronchial hyperresponsiveness or asthma symptoms and subjects with bronchial hyperresponsiveness may not be atopic or asthmatic (see Fig. 1). The phenotype can be defined in several ways ranging from subjective measures (e.g. symptoms), objective measures (e.g. BHR or serum IgE level) or both. It is this lack of a clear definition of asthmatic phenotypes that presents the biggest problem when reviewing studies of the genetic basis of asthma and atopy, with multiple definitions of the same intermediate phenotype being used in different studies.
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