Chapter

Mendelian randomization: the contribution of genetic epidemiology to elucidating environmentally modifiable causes of disease

George Davey Smith and Shah Ebrahim

in Human Genome Epidemiology, 2nd Edition

Published in print December 2009 | ISBN: 9780195398441
Published online May 2010 | e-ISBN: 9780199776023 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780195398441.003.0021
 							Mendelian randomization: the contribution of genetic epidemiology to elucidating environmentally modifiable causes of disease

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Conventional risk factor epidemiology — directly studying environmentally modifiable exposures that may influence disease risk — and genetic epidemiology have similarities and differences. The case-control design is, for example, more popular in genetic epidemiology than it currently is in conventional risk factor epidemiology, and while the importance of sample size is recognized in conventional epidemiology, the huge collaborative ventures currently being undertaken in genetic epidemiology have not been the norm, since special attention has, appropriately, been paid to detailed exposure and outcome measurement. In genetic epidemiology there has recently been much attention paid to false-positive findings generated by multiple hypothesis testing against a background of inadequate statistical power, whereas in risk factor epidemiology, problems generated by confounding and bias have been to the forefront. This chapter deals with Mendelian randomization, a principle that underlies some of the differences between conventional risk factor and genetic epidemiology, and also renders genetic epidemiology a useful tool for improving the identification of environmentally modifiable risk factors that are causally related to disease outcomes, and therefore targets for therapeutic or preventative intervention.

Keywords: Mendelian randomization; genetic epidemiology; risk factor epidemiology; risk factors; causes of disease

Chapter.  15576 words.  Illustrated.

Subjects: Public Health and Epidemiology

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