Biomarkers and molecular endotypes of sarcoidosis: lessons from omics and non-omics studies.

Biomarkers and molecular endotypes of sarcoidosis: lessons from omics and non-omics studies.
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DOI:
10.3389/fimmu.2023.1342429
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发表时间:
2023
影响因子:
7.3
通讯作者:
--
中科院分区:
医学2区
文献类型:
--
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结节病是一种慢性肉芽肿性疾病,其特征是病因不明,机制不明,除TNF阻断外,治疗方法无特异性。为了提高我们对致病性的理解和预测疾病的结果,迫切需要鉴定新的生物标志物和分子内型。在这项研究中,我们系统地评估了结节病通过组学和非组学方法鉴定的生物标志物。目前记录的大多数结节病生物标志物主要是通过传统的“一对所有”非组学靶向研究确定的。尽管应用机器学习算法从无偏见的综合组学研究中识别生物标志物和内型仍处于起步阶段,但已报道了一系列生物标志物,绝大多数用于诊断以区分结节病与健康对照。鉴于目前结节病中的生物标志物谱是稀缺的、碎片化的并且大部分未经验证的事实,迫切需要使用更先进的组学方法来鉴定新的结节病生物标志物和分子内型,以促进疾病诊断和预后,解决疾病异质性,并促进个性化医疗。
Sarcoidosis is a chronic granulomatous disorder characterized by unknown etiology, undetermined mechanisms, and non-specific therapies except TNF blockade. To improve our understanding of the pathogenicity and to predict the outcomes of the disease, the identification of new biomarkers and molecular endotypes is sorely needed. In this study, we systematically evaluate the biomarkers identified through Omics and non-Omics approaches in sarcoidosis. Most of the currently documented biomarkers for sarcoidosis are mainly identified through conventional “one-for-all” non-Omics targeted studies. Although the application of machine learning algorithms to identify biomarkers and endotypes from unbiased comprehensive Omics studies is still in its infancy, a series of biomarkers, overwhelmingly for diagnosis to differentiate sarcoidosis from healthy controls have been reported. In view of the fact that current biomarker profiles in sarcoidosis are scarce, fragmented and mostly not validated, there is an urgent need to identify novel sarcoidosis biomarkers and molecular endotypes using more advanced Omics approaches to facilitate disease diagnosis and prognosis, resolve disease heterogeneity, and facilitate personalized medicine.
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