Technische University Munich, Weihenstephaner Berg 3, 85354 Freising, Germany.
Methods. 2013 Jan;59(1):3-9. doi: 10.1016/j.ymeth.2012.08.012. Epub 2012 Sep 4.
Molecular biomarkers found their way into many research fields, especially in molecular medicine, medical diagnostics, disease prognosis, risk assessment but also in other areas like food safety. Different definitions for the term biomarker exist, but on the whole biomarkers are measureable biological molecules that are characteristic for a specific physiological status including drug intervention, normal or pathological processes. There are various examples for molecular biomarkers that are already successfully used in clinical diagnostics, especially as prognostic or diagnostic tool for diseases. Molecular biomarkers can be identified on different molecular levels, namely the genome, the epigenome, the transcriptome, the proteome, the metabolome and the lipidome. With special "omic" technologies, nowadays often high throughput technologies, these molecular biomarkers can be identified and quantitatively measured. This article describes the different molecular levels on which biomarker research is possible including some biomarker candidates that have already been identified. Hereby the transcriptomic approach will be described in detail including available high throughput methods, molecular levels, quantitative verification, and biostatistical requirements for transcriptional biomarker identification and validation.
分子生物标志物已经在许多研究领域得到了应用，特别是在分子医学、医学诊断、疾病预后、风险评估等领域，同时也在食品安全等其他领域得到了应用。虽然对于生物标志物这一术语存在不同的定义，但总的来说，生物标志物是指可衡量的、具有特定生理状态特征的生物分子，包括药物干预、正常或病理过程。目前已经有许多分子生物标志物成功应用于临床诊断，特别是作为疾病的预后或诊断工具。分子生物标志物可以在不同的分子水平上进行鉴定，包括基因组、表观基因组、转录组、蛋白质组、代谢组和脂质组。利用特殊的“组学”技术，即现在通常所说的高通量技术，可以对这些分子生物标志物进行鉴定和定量测量。本文介绍了可能进行生物标志物研究的不同分子水平，包括已经鉴定出的一些生物标志物候选物。本文详细描述了转录组学方法，包括现有的高通量方法、分子水平、定量验证以及转录组生物标志物鉴定和验证的生物统计学要求。
