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Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. In slightly more formal language, genetic epidemiology was defined by Morton as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals.

Traditionally, the study of the role of genetics in disease progresses through the following study designs, each answering a slightly different question:

• Familial aggregation studies: Is there a genetic component to the disease, and what are the relative contributions of genes and environment?
• Segregation studies: What is the pattern of inheritance of the disease (e.g. dominant or recessive)?
• Linkage studies: On which part of which chromosome is the disease gene located?
• Association studies: Which allele of which gene is associated with the disease?

This traditional approach has proved highly successful in identifying monogenic disorders and locating the genes responsible.

More recently, the scope of genetic epidemiology has expanded to include common diseases for which many genes each make a smaller contribution (polygenic, multifactorial or multigenic disorders). This has developed rapidly in the first decade of the 21st century following completion of the Human Genome Project, as advances in genotyping technology and associated reductions in cost has made it feasible to conduct large-scale genome-wide association studies that genotype many thousands of single nucleotide polymorphisms in thousands of individuals. These have led to the discovery of many genetic polymorphisms that influence the risk of developing many common diseases.

See also

• Genetic disorder
• Molecular epidemiology
• Mutation
• Population genetics
• Hardy–Weinberg principle
• Population groups in biomedicine

Further reading

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• Khoury, M.J. (1993). Fundamentals of genetic epidemiology. New York: Oxford University Press. ISBN 0-19-505288-9. {{cite book}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)
• Morton, Newton E; Chung, Chin Sik, eds. (1978). Genetic Epidemiology. New York: Academic Press. ISBN 0-12-508050-6.
• Morton, N.E (1997). "Genetic Epidemiology" (PDF). Annals of Human Genetics. 61 (1): 1–13. doi:10.1017/S0003480096005891. PMC 1715876. PMID 9245975. Retrieved 15 June 2010.
• Khoury, Muin J.; Little, Julian; Burke, Wylie, eds. (2003). Human Genome Epidemiology: A scientific foundation for using genetic information to improve health and prevent disease. Oxford University Press. ISBN 978-0-19-514674-5.
• Spence, M. A. (2005). "Genetic Epidemiology". Encyclopedia of Biostatistics. Wiley Interscience. doi:10.1002/0470011815.b2a05034. ISBN 9780470849071.
• Thomas, D.C. (2004). Statistical Methods in Genetic Epidemiology. Oxford University Press. ISBN 0-19-515939-X.

• Teare, M.D. (2011). Genetic Epidemiology. Springer. ISBN 978-1-60327-415-9.

External links

• Genetic Epidemiology (journal)
• International Genetic Epidemiology Society

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