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哮喘中的基因多态性:一篇叙述性综述。

Gene polymorphisms in asthma: a narrative review.

作者信息

Shi Fei, Zhang Yu, Qiu Chen

机构信息

Department of Emergency Medicine, Shenzhen People's Hospital (The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, China.

Shenzhen Institute of Respiratory Diseases, Shenzhen People's Hospital (The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, China.

出版信息

Ann Transl Med. 2022 Jun;10(12):711. doi: 10.21037/atm-22-2170.

Abstract

BACKGROUND AND OBJECTIVE

Asthma is a heterogeneous disease caused by interactions between genetic and environmental factors. Genome-wide association studies (GWAS) have revealed that genetic variation plays a crucial role in the occurrence and development of asthma. The objective is to systematically review the existing literature on the association between gene polymorphisms and asthma to better understand the relationship between genetic factors and the occurrence and development of asthma.

METHODS

We used keywords "asthma" and "gene polymorphism" with their combinations to search for relevant literature published from 2000 to 2021 in the PubMed database and the foreign medical literature retrieval service (FMRS). All articles included in the review are English. Then, we summarized the information pertaining to the genetic factors related to asthma susceptibility.

KEY CONTENT AND FINDINGS

This study summarized the information on 10 gene variants related to the risk of asthma published over the past 20 years, which will assist in further understanding the role of genetic variants in the risk of asthma.

CONCLUSION

Dozens of candidate genes have been identified that were associated with asthma risk. Asthmatics existed specific gene variation performed different response to therapy. Personalized therapy based on genotypic profiling would be an important direction in the future. However, it remains a great challenge for us to explore the relationship between gene polymorphisms and pathophysiological mechanism of asthma.

摘要

背景与目的

哮喘是一种由遗传和环境因素相互作用引起的异质性疾病。全基因组关联研究(GWAS)表明,基因变异在哮喘的发生和发展中起着关键作用。目的是系统回顾关于基因多态性与哮喘关联的现有文献,以更好地理解遗传因素与哮喘发生和发展之间的关系。

方法

我们使用关键词“哮喘”和“基因多态性”及其组合,在PubMed数据库和外文医学文献检索服务系统(FMRS)中检索2000年至2021年发表的相关文献。纳入综述的所有文章均为英文。然后,我们总结了与哮喘易感性相关的遗传因素信息。

关键内容与发现

本研究总结了过去20年发表的与哮喘风险相关的10个基因变异的信息,这将有助于进一步了解基因变异在哮喘风险中的作用。

结论

已鉴定出数十个与哮喘风险相关的候选基因。哮喘患者存在特定的基因变异,对治疗有不同反应。基于基因分型的个性化治疗将是未来的一个重要方向。然而,探索基因多态性与哮喘病理生理机制之间的关系对我们来说仍然是一个巨大的挑战。

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