将基因组学整合为儿科肺病学中的临床生物标志物。
Integrating genomics as clinical biomarkers in pediatric pulmonology.
作者信息
Forno Erick
机构信息
Department of Pediatrics, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, Indiana, USA.
出版信息
Pediatr Pulmonol. 2025 Mar;60 Suppl 1(Suppl 1):S66-S67. doi: 10.1002/ppul.27308. Epub 2024 Oct 3.
Abstract
Respiratory diseases often result from complex interactions between an individual's genetic predisposition and their exposure to various environmental and other risk factors. Here we will briefly review how various types of "omics", particularly epigenomics and transcriptomics, hold promise for translation into clinical biomarkers in pediatric pulmonary medicine, using asthma and cystic fibrosis as examples.
摘要
呼吸系统疾病通常源于个体的遗传易感性与他们接触各种环境及其他风险因素之间的复杂相互作用。在此，我们将以哮喘和囊性纤维化为例，简要回顾各类“组学”，尤其是表观基因组学和转录组学，在转化为儿科肺病临床生物标志物方面的前景。
相似文献
1
Integrating genomics as clinical biomarkers in pediatric pulmonology.将基因组学整合为儿科肺病学中的临床生物标志物。
Pediatr Pulmonol. 2025 Mar;60 Suppl 1(Suppl 1):S66-S67. doi: 10.1002/ppul.27308. Epub 2024 Oct 3.
2
Cystic fibrosis year in review 2017.囊性纤维化 2017 年年鉴
Pediatr Pulmonol. 2018 Sep;53(9):1307-1317. doi: 10.1002/ppul.24081. Epub 2018 Jun 21.
3
Paediatric respiratory disease: past, present and future.儿科呼吸系统疾病：过去、现在与未来。
Eur Respir J. 2010 Aug;36(2):225-8. doi: 10.1183/09031936.00085510.
4
Paediatrics in Vienna.维也纳儿科学
Eur Respir J. 2013 Oct;42(4):1092-104. doi: 10.1183/09031936.00037213. Epub 2013 May 3.
5
[Genomic medicine in the solution of pulmonological problems].
Vestn Ross Akad Med Nauk. 2000(12):45-8.
6
Paediatrics in Barcelona.巴塞罗那儿科学
Eur Respir J. 2014 Aug;44(2):457-74. doi: 10.1183/09031936.00046414. Epub 2014 May 15.
7
Using omics approaches to understand pulmonary diseases.运用组学方法了解肺部疾病。
Respir Res. 2017 Aug 3;18(1):149. doi: 10.1186/s12931-017-0631-9.
8
Omics technologies in allergy and asthma research: An EAACI position paper.过敏和哮喘研究中的组学技术：一项 EAACI 立场文件。
Allergy. 2022 Oct;77(10):2888-2908. doi: 10.1111/all.15412. Epub 2022 Jun 30.
9
Childhood asthma in the new omics era: challenges and perspectives.新组学时代的儿童哮喘：挑战与展望。
Curr Opin Allergy Clin Immunol. 2020 Apr;20(2):155-161. doi: 10.1097/ACI.0000000000000626.
10
Multi-Omics Profiling Approach to Asthma: An Evolving Paradigm.哮喘的多组学分析方法：一种不断发展的范式。
J Pers Med. 2022 Jan 7;12(1):66. doi: 10.3390/jpm12010066.
本文引用的文献
1
Nasal Epithelium Transcriptomics Predict Clinical Response to Elexacaftor/Tezacaftor/Ivacaftor.鼻上皮转录组学预测依伐卡托/泰他卡托/艾氟康唑的临床反应。
Am J Respir Cell Mol Biol. 2024 Dec;71(6):730-739. doi: 10.1165/rcmb.2024-0103OC.
2
Pharmacological Improvement of Cystic Fibrosis Transmembrane Conductance Regulator Function Rescues Airway Epithelial Homeostasis and Host Defense in Children with Cystic Fibrosis.药物改善囊性纤维化跨膜电导调节因子功能可挽救囊性纤维化患儿的气道上皮稳态和宿主防御。
Am J Respir Crit Care Med. 2024 Jun 1;209(11):1338-1350. doi: 10.1164/rccm.202310-1836OC.
3
A novel whole blood gene expression signature for asthma, dermatitis, and rhinitis multimorbidity in children and adolescents.一种用于儿童和青少年哮喘、皮炎和鼻炎多重病症的新型全血基因表达特征。
Allergy. 2020 Dec;75(12):3248-3260. doi: 10.1111/all.14314. Epub 2020 Apr 23.
4
Transcriptome-wide and differential expression network analyses of childhood asthma in nasal epithelium.鼻上皮中儿童哮喘的全转录组和差异表达网络分析。
J Allergy Clin Immunol. 2020 Sep;146(3):671-675. doi: 10.1016/j.jaci.2020.02.005. Epub 2020 Feb 20.
5
DNA methylation in nasal epithelium, atopy, and atopic asthma in children: a genome-wide study.儿童鼻腔上皮细胞中的 DNA 甲基化、特应性和特应性哮喘：一项全基因组研究。
Lancet Respir Med. 2019 Apr;7(4):336-346. doi: 10.1016/S2213-2600(18)30466-1. Epub 2018 Dec 21.
6
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.多祖裔关联研究确定了新的哮喘风险基因座，这些基因座与免疫细胞增强子标记物共定位。
Nat Genet. 2018 Jan;50(1):42-53. doi: 10.1038/s41588-017-0014-7. Epub 2017 Dec 22.
Zotero 插件