Figure 1
Types of pleiotropy. (a) Biological pleiotropy indicates that a gene regulates multiple traits; therefore, the gene is responsible for the association of the traits. (b) Mediated pleiotropy refers to when a gene regulates Trait B while fully or partially mediated by Trait A. Testing whether an indirect effect exists can distinguish (b) from (a). (c) Unmeasured confounding between genes may initiate a spurious pleiotropic gene (Gene 2) due to a biological pleiotropic gene (Gene 1). The solid line indicates authentic causation, the dashed line indicates potential authentic causation, and the dotted line indicates spurious causation.

Types of pleiotropy. (a) Biological pleiotropy indicates that a gene regulates multiple traits; therefore, the gene is responsible for the association of the traits. (b) Mediated pleiotropy refers to when a gene regulates Trait B while fully or partially mediated by Trait A. Testing whether an indirect effect exists can distinguish (b) from (a). (c) Unmeasured confounding between genes may initiate a spurious pleiotropic gene (Gene 2) due to a biological pleiotropic gene (Gene 1). The solid line indicates authentic causation, the dashed line indicates potential authentic causation, and the dotted line indicates spurious causation.

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