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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.

DOI:10.1016/j.ccm.2024.03.002
PMID:39069324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11284279/
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc6e/11284279/46bbac09c0cb/nihms-1978111-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc6e/11284279/46bbac09c0cb/nihms-1978111-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc6e/11284279/46bbac09c0cb/nihms-1978111-f0001.jpg

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Clin Transl Allergy. 2023 Apr;13(4):e12239. doi: 10.1002/clt2.12239.
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Functional characterization of human genomic variation linked to polygenic diseases.
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Trends Genet. 2023 Jun;39(6):462-490. doi: 10.1016/j.tig.2023.02.014. Epub 2023 Mar 28.
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Am J Epidemiol. 2023 Aug 4;192(8):1249-1263. doi: 10.1093/aje/kwad071.
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Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.哮喘的多血统荟萃分析确定了新的关联,并凸显了增强效能和多样性的价值。
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Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.临床遗传咨询和多基因评分在个性化风险评估中的翻译注意事项:美国遗传咨询师协会的实践资源。
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