- Identification and Application of Biomarkers in Molecular and Genomic Epidemiologic Research.
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Kyoung Mu Lee, Sohee Han, Woong Yang Park, Daehee Kang
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J Prev Med Public Health. 2009;42(6):349-355.
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DOI: https://doi.org/10.3961/jpmph.2009.42.6.349
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- 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.
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Citations
Citations to this article as recorded by  - Could 8-oxoguanine DNA glycosylase 1 Ser326Cys polymorphism be a biomarker of susceptibility in cancer?
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Barbara Kossowska, Ilona Dudka, Roman Gancarz, Jolanta Antonowicz-Juchniewicz
International Journal of Hygiene and Environmental Health.2013; 216(1): 1. CrossRef - The vanishing zero revisited: Thresholds in the age of genomics
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- Current Status of Genomic Epidemiology Research.
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Daehee Kang, Kyoung Mu Lee
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Korean J Prev Med. 2003;36(3):213-222.
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Abstract
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- Genomic epidemiology is defined as "an evolving field of inquiring that uses the systematic application of epidemiologic methods and approaches in population-based studies of the impact of human genetic variation on health and disease (Khoury, 1998) ". Most human diseases are caused by the intricate interaction among environmental exposures and genetic susceptibility factors. Susceptibility genes involved in disease pathogenesis are categorized into two groups: high penetrance genes (i.e., BRAC1, RB, etc.) and low penetrance genes (i.e., GSTs, Cyps, XRCC1, ets.), and low penetrance susceptibility genes has the higher priority for epidemiological research due to high population attributable risk. In this paper, the summarized results of the association study between single nucleotide polymorphisms (SNPs) and breast cancer in Korea were introduced and the international trends of genomic epidemiology research were reviewed with an emphasis on internet-based case-control and cohort consortium.
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