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哮喘-基因组学在风险预测方面的进展。

Asthma-Genomic Advances Toward Risk Prediction.

机构信息

Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, 615 N Wolfe Street, Baltimore, MD 21205, USA.

Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Avenida Astrofísico Francisco Sánchez, s/n. Facultad de Ciencias, San Cristóbal de La Laguna, S/C de Tenerife La Laguna 38200, Tenerife, Spain.

出版信息

Clin Chest Med. 2024 Sep;45(3):599-610. doi: 10.1016/j.ccm.2024.03.002. Epub 2024 Apr 21.

Abstract

Asthma is a common complex airway disease whose prediction of disease risk and most severe outcomes is crucial in clinical practice for adequate clinical management. This review discusses the latest findings in asthma genomics and current obstacles faced in moving forward to translational medicine. While genome-wide association studies have provided valuable insights into the genetic basis of asthma, there are challenges that must be addressed to improve disease prediction, such as the need for diverse representation, the functional characterization of genetic variants identified, variant selection for genetic testing, and refining prediction models using polygenic risk scores.

摘要

哮喘是一种常见的复杂气道疾病,其疾病风险和最严重结局的预测在临床实践中对于充分的临床管理至关重要。本综述讨论了哮喘基因组学的最新发现以及推进转化医学所面临的当前障碍。虽然全基因组关联研究为哮喘的遗传基础提供了有价值的见解,但仍需要解决一些挑战以改善疾病预测,例如需要多样化的代表性、鉴定的遗传变异的功能特征、遗传检测的变异选择以及使用多基因风险评分来改进预测模型。

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