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The balance between heritable and environmental aetiology of human disease

Abstract

The Human Genome Project and the ensuing International HapMap Project were largely motivated by human health issues. But the distance from a DNA sequence variation to a novel disease gene is considerable; for complex diseases, closing this gap hinges on the premise that they arise mainly from heritable causes. Using cancer as an example of complex disease, we examine the scientific evidence for the hypothesis that human diseases result from interactions between genetic variants and the environment.

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Figure 1: Survival in rats and humans — inter-individual variation.

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Acknowledgements

Supported by Deutsche Krebshilfe, Swedish Cancer Society, Swedish Council for Working Life and Social Research and the EU.

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Correspondence to Kari Hemminki.

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FURTHER INFORMATION

American Cancer Society Guidelines

Connecticut Tumor Registry

German Cancer Research Center Division of Molecular Genetic Epidemiology homepage

Human Genome Project

International Agency for Research on Cancer

National Institutes of Health

NIH Genes and Environment Initiative

Swedish Cancer Registry

UK Biobank

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Hemminki, K., Lorenzo Bermejo, J. & Försti, A. The balance between heritable and environmental aetiology of human disease. Nat Rev Genet 7, 958–965 (2006). https://doi.org/10.1038/nrg2009

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