Disease Susceptibility - Advantages & Disadvantages of ...

Advantages and Disadvantages of Gene-disease Association Studies

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http://www.phgfoundation.org/tutorials/variantsDisease/5.html

Gene-association studies can be used for studying rare diseases. * Can be used to test of a specific marker in a particular gene (individual SNPs). * It can also be useful in investigating gene-gene or gene-environment interactions.

Gene-disease association studies are not however without disadvantages. * This type of study cannot test causality, it can only measure statistical associations. * It is also prone to confounding variables and the choice of controls is key for avoiding selection bias. * Can be expensive, especially if it is a prospective cohort study.

In a study looking at the association between apolipoprotein E gene variants and Alzheimers disease, Farrer and colleagues* found that there was a strong association between the genetic variant epsilon4 (APOE4), and the development of Alzheimers disease. In fact the risk was higher in those individuals who had inherited two copies of the variant, compared with one copy, and lowest for individuals who had inherited two different variants.

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