Mendelian randomization
Mendelian Randomization
Mendelian randomization (men-dee-lee-uhn ran-duh-muh-zay-shuhn) is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in observational studies.
Etymology
The term "Mendelian" refers to Gregor Mendel, a 19th-century monk and scientist who is often called the father of modern genetics for his work on inheritance patterns in pea plants. "Randomization" refers to the random allocation of genetic variants at conception, which is used as an instrumental variable in this method.
Definition
Mendelian randomization is a method that uses genetic variants associated with an exposure of interest to test for causal effects on an outcome. This method is based on the principle of Mendelian inheritance, which states that the inheritance of genetic traits follows certain laws, which are predictable and independent of environmental factors.
Related Terms
- Genetic variant: A difference in the DNA sequence among individuals, groups, or populations.
- Instrumental variable: A variable that is used to account for confounding in observational studies.
- Observational study: A type of study in which individuals are observed or certain outcomes are measured, without any attempt to affect the outcome.
- Causal effect: The change in an outcome due to a change in the cause or treatment.
- Modifiable exposure: An exposure that can be changed or controlled, such as diet or lifestyle factors.
Application
Mendelian randomization can be used to provide evidence for causal relationships where traditional observational studies may be misleading due to confounding or reverse causation. It has been used in many areas of medical research, including epidemiology, public health, and social science.
Limitations
While Mendelian randomization can provide valuable insights, it also has limitations. These include the need for large sample sizes, the assumption that the genetic variant affects the outcome only through the exposure (no pleiotropy), and the possibility of population stratification.
External links
- Medical encyclopedia article on Mendelian randomization
- Wikipedia's article - Mendelian randomization
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