Biomarkers Used in Molecular Epidemiology

This section describes the identification and evaluation of biomarkers (Section 26.3.1) and the major types of biomarkers—exposure, effect, and susceptibility (Sections 26.3.2 to 26.3.4) the subdiscipline of genetic susceptibility is discussed in greater detail in Section 26.4. 

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In the present chapter we will first review basic concepts of epidemiological research and follow with a discussion of different types of biomarkers used in molecular epidemiology, and finally we will concentrate on the study of genetic susceptibility. In our discussion we will put special emphasis in the challenges that using such markers introduce when used at the population level. 

Environmental Cancer Risk, Nutrition, and Individual Susceptibility (ECNIS) Studying use of biomarkers of exposure and susceptibility and bioindicators of disease in molecular epidemiology of cancer (ECNIS 2005). 

Biomarkers can also be used to identify factors that increase the likelihood that an individual will develop disease. This is an important area of research in molecular epidemiology as it becomes more evident that not all risk factors will contribute to disease equally across the human population. Therefore, in order to determine whether an environmental agent is related to disease, those factors that are also required for disease development need to be taken into account. Otherwise, many disease risk factors may go undetected. Examples of susceptibility factors that can be ascertained using biomarkers are some viral infections, which may predispose to specific diseases (for example, HIV infection and Kaposi sarcoma) or HBV infection and liver cancer. Biomarkers can also be used to measure dietary factors that can contribute to disease. The most common susceptibility factor studied using a molecular epidemiological approach are hereditary factors, which are discussed in the following section. 

Molecular/Genetic Epidemiology. The term molecular epidemiology was first used in the early 1980 s. Rapidly emerging technology enabled molecular biomarkers to be added to traditionally collected data, first in the context of cancer research. The strategy was to identify molecular events and modify... 

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