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Clinical Review Science, medicine, and the future

Genetic epidemiology

BMJ 2000; 320 doi: (Published 06 May 2000) Cite this as: BMJ 2000;320:1257
  1. Jaakko Kaprio, professor of public health (
  1. See also Editorial by WatkinsDepartment of Public Health and General Practice, University of Oulu, Aapistie 1, FIN-90220 Oulu, Finland

    Research in disease aetiology has shifted towards investigating genetic causes, powered by the human genome project.1 2 Successful identification of genes for monogenic disease has led to interest in investigating the genetic component of diseases that are often termed complex—that is, they are known to aggregate in families but do not segregate in a mendelian fashion. Genetic epidemiology has permitted identification of genes affecting people's susceptibility to disease, although progress has been much slower than many people expected. While the role of genetic factors in diseases such as hypertension, asthma, and depression is being intensively studied, family studies and the large geographical and temporal variation in the occurrence of many diseases indicate a major role of the environment. Thus, it is necessary to consider findings about susceptibility genes in the context of a population and evaluate the role of genetic factors in relation to other aetiological factors.This article discusses some approaches used to resolve the genetic architecture of disease and to study the relation of genes to environmental factors in the population.


    I used peer reviewed publications and selected reviews as the main information sources for this article.

    What is genetic epidemiology?

    Genetic epidemiology is the study of the aetiology, distribution, and control of disease in groups of relatives and of inherited causes of disease in populations.3 From its parent disciplines of genetics and epidemiology, it has inherited the key elements of studying defined populations while investigating the roles of genes and the environment in relation to each other and endeavouring to account for the known biology of diseases.4 Quantifying the risk associated with genetic variation is a prerequisite for assessing the use of this new knowledge in medicine.

    Is there a genetic component to disease?

    The primary goal of genetic epidemiology is resolving the genetic architecture of a disease—that is, establishing whether it has a genetic component …

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