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哮喘遗传学

Author
Kathleen C Barnes, PhD
Section Editors
Peter J Barnes, DM, DSc, FRCP, FRS
Benjamin A Raby, MD, MPH
Deputy Editor
Helen Hollingsworth, MD
Translators
徐跃华, 副主任医师，副教授

引言

哮喘是一种很可能由多种遗传因素和环境因素间复杂的相互作用引起的疾病。对哮喘个体的孪生同胞和家族的研究显示，哮喘的发生模式符合遗传因素[1-3]。哮喘表型中明显存在表出较强遗传性的成分，但这些遗传性成分并不遵循诸如囊性纤维化等单基因疾病中的简单的孟德尔遗传模式，并且与这些遗产成分相关的特定基因尚未被识别。 (参见“Basic principles of genetic disease”)

哮喘的遗传学将总结在此，其流行病学和危险因素将单独讨论。 (参见“哮喘流行病学”和“哮喘的危险因素”)

哮喘遗传学研究中的问题

人类和动物数据目前显示，哮喘综合征很可能是由多个基因传递的。此外，不同个体中的不同基因可能导致相同的表型(位点异质性)，同一个体中产生作用的多个基因(寡基因或多基因遗传)可能引起哮喘表型表达[4]。

一些基因可能影响哮喘的发生，而其他基因可能改变哮喘的严重程度或患者对治疗的反应。最后，遗传因素和环境影响间的相互作用则产生了另一层复杂性。

目前尚无针对哮喘诊断的“金标准”检测，而临床诊断的应用并不一致，这一事实也阻碍了对哮喘遗传学的探索。为了避免这些问题，除了是否有哮喘诊断以外，研究者还研究了哮喘相关的特质分布，包括支气管高反应性(bronchial hyperresponsiveness, BHR)和特应性的测量(如，总血清IgE水平和皮肤试验反应性)[5,6]。 (参见“青少年及成人哮喘的诊断”)

                   

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Literature review current through: 2017-07 . | This topic last updated: 2016-05-23.
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