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December 6, 2021Cold Spring Harbor Perspectives in Medicine663 citationsOpen Access

Mendelian Randomization

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EBEwan Birney

Key Points

  • To examine how Mendelian randomization applies econometric instrumental variable techniques to evaluate the causal effects of environmental and biological exposures on human disease.
  • Adapted instrumental variable statistical frameworks from economics to epidemiological research.
  • Utilized naturally randomized parental genetic variants affecting exposures (such as alcohol consumption and low-density lipoprotein levels) to evaluate outcomes including cardiovascular disease.
  • Established that inherited genetic variation functions as a valid instrumental variable to disentangle causal exposure-disease relationships from environmental confounding.
  • Identified methodological caveats while demonstrating the expanding utility of genetic randomization methods for resolving complex questions in human biology and epidemiology.

Abstract

Mendelian randomization borrows statistical techniques from economics to allow researchers to analyze the effects of the environment, drug treatments, and other factors on human biology and disease. Taking advantage of the fact that genetic variation is randomized among children from the same parents, it allows genetic variants known to influence factors like alcohol consumption or low-density lipoprotein (LDL) levels to be used as instrumental variables that can disentangle the effects of these factors on outcomes such as pregnancy or cardiovascular disease, respectively. There are caveats to analyses using Mendelian randomization and related techniques that researchers should be aware of, but they are increasingly powerful tools for solving problems in epidemiology and human biology.

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Cite This Study

Ewan Birney (2021) studied this question.

synapsesocial.com/papers/696a3a530ddcbb9dc9272618https://doi.org/10.1101/cshperspect.a041302
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