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哮喘的基因分析与个体化治疗:我们做到了吗?

Genetic profiling and tailored therapy in asthma: are we there yet?

作者信息

Lugogo Njira L, Ginsburg Geoffrey S, Que Loretta G

机构信息

Duke University Medical Center, Division of Pulmonary, Allergy and Critical Care Medicine, PO Box 2629, Durham, NC 27710, USA.

出版信息

Curr Opin Mol Ther. 2007 Dec;9(6):528-37.

Abstract

Asthma is characterized by reversible bronchial hyper-responsiveness and airway inflammation, and encompasses a wide variety of patients with different clinical phenotypes that display variable responses to therapy. The definition of genomic variation presented in the Human Genome Project has facilitated the development of genetic-guided therapy in various diseases, including asthma. Tailored therapy is a reality in many types of malignancies where specific gene mutations or molecular profiles are identified and used to make critical therapeutic decisions. Despite the identification of beta-adrenergic receptor polymorphisms by Liggett and colleagues during the 1990s, the pharmacogenetics of asthma is still in its infancy. There have been great advances in asthma pharmacogenetics and pharmacotherapy with the completion of several large trials highlighting the effects of genotype on response to asthma therapy. This review focuses on research articles that serve to emphasize the potential role of using genotyping as a tool to develop individualized patient treatment regimens for asthma, thus improving outcomes and limiting adverse effects of certain therapies.

摘要

哮喘的特征是可逆性支气管高反应性和气道炎症,涵盖了各种各样具有不同临床表型的患者,这些患者对治疗表现出不同的反应。人类基因组计划中提出的基因组变异定义推动了包括哮喘在内的各种疾病的基因导向治疗的发展。在许多类型的恶性肿瘤中,量身定制的治疗已成为现实,在这些肿瘤中,特定的基因突变或分子特征被识别出来,并用于做出关键的治疗决策。尽管利吉特及其同事在20世纪90年代就发现了β-肾上腺素能受体多态性,但哮喘的药物遗传学仍处于起步阶段。随着几项大型试验的完成,哮喘药物遗传学和药物治疗取得了巨大进展,这些试验突出了基因型对哮喘治疗反应的影响。本综述重点关注一些研究文章,这些文章强调了将基因分型作为一种工具来制定哮喘患者个体化治疗方案的潜在作用,从而改善治疗效果并限制某些治疗的不良反应。

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