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Zoom link:¡¡https://snu-ac-kr.zoom.us/j/95800656704?pwd=d1FNREZscWdNSEJtL1JqS0YwTkpRdz09



Mendelian randomization and GWAS in medicine

Hong-Hee Won, Ph.D.
SAIHST, Sungkyunkwan University
Samsung Medical Center

Observational studies are useful to identify associations between risk factors and diseases, but often¡¡show inconsistent results due to heterogeneity among studies such as metrics, race, and cohort¡¡characteristics. In addition, many associated factors have a bidirectional interaction with the disease.
For example, although the risk of disease is increased by an associated factor, it can also be¡¡increased due to the occurrence of the disease. In the case of such a complex epidemiologic¡¡relationship, it is difficult to confirm the exact causality or direction of interaction only by observational¡¡studies.
The concept of causality is important in medicine because it enables proper and effective¡¡treatments. Randomized controlled trials (RCTs) are considered a gold standard to confirm a causal¡¡relationship between risk factors and disease. For example, in interventional studies such as drug¡¡studies, causality can be confirmed through RCT. In many cases such as smoking and lung cancer,
however, RCTs are not feasible because it is unethical to induce risk factors through intervention.
Mendelian randomization (MR) is a method of using genetic variants as instrumental
variables to examine the causal effect of a modifiable exposure on disease based on the fact that¡¡genetic variants which increase or decrease the risk of a factor are randomly assigned during meiosis.
Comparing the difference in the risk of disease for two groups that have high or low genetic risk for¡¡the factor can evaluate whether the factor induces the disease without intervention. In this¡¡presentation, I will talk about genome-wide association studies that identify genetic variants¡¡associated with traits such as risk factors and diseases. Also, I will explain MR analyses,¡¡assumptions, interpretation as well as several examples from the literature.