Rare disease assumption

Rare disease assumption is a statistical concept used in genetic epidemiology. It is based on the assumption that the disease under study is rare in the population. This assumption allows for simplifications in the calculations used in genetic association studies.

Overview

The rare disease assumption is used in genetic association studies to simplify the calculations of odds ratios. It is based on the assumption that the disease under study is rare in the population. This assumption allows for the use of the odds ratio as an approximation of the relative risk, which is a more intuitive measure of the strength of association between a genetic variant and a disease.

The rare disease assumption is often used in case-control studies, where the disease status is known for each individual, but the overall prevalence of the disease in the population is not known. In these studies, the odds ratio is used as an estimate of the relative risk.

Limitations

The rare disease assumption has limitations. If the disease is not rare, the odds ratio can overestimate the relative risk. This can lead to incorrect conclusions about the strength of association between a genetic variant and a disease.

In addition, the rare disease assumption does not account for the possibility of genetic heterogeneity, where different genetic variants can cause the same disease. This can also lead to incorrect conclusions about the strength of association between a genetic variant and a disease.

See also

• Genetic association
• Odds ratio
• Relative risk
• Genetic heterogeneity

References

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