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Causation and Single Nucleotide Polymorphism Heritability

Published online by Cambridge University Press:  01 January 2022

Pierrick Bourrat
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Abstract

Genome-wide association studies (GWAS) of human complex traits have provided us with new estimates of heritability. These estimates foreground the question of genetic causation. After having presented in simple terms the rationale underlying this way of estimating heritability, I assess the extent to which relationships between genes and phenotypes established with GWAS satisfy several dimensions of causal relationships—namely, range of influence, specificity, and stability—distinguished within the interventionist account of causation. The upshot is that if these relationships are causal in some sense, my analysis shows the extent to which they do not represent paradigmatic causal relationships.

Type
Biological Sciences and Medicine
Information
Philosophy of Science , Volume 87 , Issue 5: PSA 2018 - Proceedings of the 2018 biennial meeting of the Philosophy of Science Association. Part II Symposia Papers , December 2020 , pp. 1073 - 1083
Copyright
Copyright © The Philosophy of Science Association

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Footnotes

†

I am thankful to the Theory and Method in Biosciences group at the University of Sydney who provided useful feedback on previous versions of the manuscript and in particular Stefan Gawronski who proofread the final manuscript. I am also thankful to Lucas Matthews for organizing the symposium and the audiences at the PSA 2019 conference and at the Genetics and Human Agency 2019 annual meeting for feedback. This research was supported by a Macquarie University Research Fellowship and a Large Grant from the John Templeton Foundation (grant 60811).

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