Lee Kyoung-Mu, Han Sohee, Park Woong-Yang, Kang Daehee
Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
J Prev Med Public Health. 2009 Nov;42(6):349-55. doi: 10.3961/jpmph.2009.42.6.349.
Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.
生物标志物是可在人体多种生物基质（包括血液和组织）中检测和测量的特征性生物学特性，用于指示是否存在疾病威胁、疾病是否已经存在，或在个别病例中疾病可能如何发展。从接触到临床疾病及疾病进展的整个连续过程中，接触、内剂量、生物有效剂量、早期生物学效应、结构和/或功能改变、临床疾病以及疾病进展都有可能通过生物标志物进行观察和量化。虽然传统的生物标志物发现过程较为缓慢，但分子和基因组医学的出现导致新生物标志物的发现呈爆发式增长。在本综述中，将讨论评估生物标志物的相关问题，并总结在流行病学研究中已识别和验证的环境暴露、早期生物学效应及易感性的生物标志物。还将讨论目前用于识别和应用生物标志物的基因组方法范围以及验证基因组生物标志物的策略。
