Biologische Marker in der Epidemiologie: Begriffe, Anwendungen, Perspektiven (Teil II)

Zusammenfassung

Im ersten Teil dieses Hintergrundpapiers wurden Begriffe im Kontext der Anwendung von biologischen Markern in epidemiologischen Studien definiert und deren historische Entwicklung am Beispiel der Herz-Kreislauf-Epidemiologie dargestellt. Im Zentrum des zweiten Teils stehen DNA-basierte Biomarker, praktische und methodische Aspekte des Einsatzes von Biomarkern in analytischen epidemiologischen Studien sowie Anforderungen an deren Validierung und Qualitätssicherung. Polymorphismen in der DNA besitzen vermutlich keinen eigenständigen Krankheitswert. Einige können jedoch als Marker zum Nachweis von individueller Sensitivität gegenüber Expositionen und Suszeptibilität für bestimmte Erkrankungen in epidemiologischen Studien eingesetzt werden. Das Human-Genom-Projekt hat zu einem Quantensprung der Möglichkeiten für die Entwicklung von genetischen Markern geführt, deren praktische Bedeutung gegenwärtig noch nicht vollständig ermessen werden kann. Forschungsprogramme zur Untersuchung von Gen-Umwelt-Interaktionen werden jedoch auch zukünftig auf die „traditionellen” epidemiologischen Designs, Methoden und Konzepte angewiesen sein. Berücksichtigung ethischer Prinzipien sowie Anforderungen des Datenschutzes und der „Guten epidemiologischen Praxis” gelten uneingeschränkt auch für die Genetische und Molekulare Epidemiologie.

Abstract

The first part of this paper outlined terms and definitions in the context of the application of biological markers in epidemiological studies. Cardiovascular epidemiology served as an example for their historical development. The second part focusses on DNA-based biomarkers, practical and methodological dimensions of the use of biomarkers in analytic epidemiological studies as well as requirements in respect of validity and quality assurance. Most genetic polymorphisms have no impact on health. However, some can be used as biomarkers for individual sensitvity to exposures and susceptibility for specific diseases. The Human Genome Project has brought about a quantum leap in the development of genetic markers. The practical implications cannot presently be assessed with certainty. However, present and future research programmes of gene-environment interactions depend on „traditional” epidemiological study designs, methods, and concepts. Ethical principles and data protection requirements apply equally to genetic and molecular epidemiology as do the „Guidelines for Good Epidemiological Practice”.

Schlüsselwörter

Biomarker - individuelle Suszeptibilität - individuelle Sensitivität - Molekulare Epidemiologie - SNP - Genetische Polymorphismen - Validität

Keywords

Biomarker - Individual susceptibility - Individual sensitivity - Molecular epidemiology - SNP - Genetic polymorphism - Validity

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