The meaning of "cause" in genetics

Combining Human Genetics and Causal Inference to Understand Human Disease and Development. Cold Spring Harbor Perspectives in Medicine (2021)
  Copy   BIBTEX

Abstract

Causation has multiple distinct meanings in genetics. One reason for this is meaning slippage between two concepts of the gene: Mendelian and molecular. Another reason is that a variety of genetic methods address different kinds of causal relationships. Some genetic studies address causes of traits in individuals, which can only be assessed when single genes follow predictable inheritance patterns that reliably cause a trait. A second sense concerns the causes of trait differences within a population. Whereas some single genes can be said to cause population-level differences, most often these claims concern the effects of many genes. Polygenic traits can be understood using heritability estimates, which estimate the relative influences of genetic and environmental differences to trait differences within a population. Attempts to understand the molecular mechanisms underlying polygenic traits have been developed, although causal inference based on these results remains controversial. Genetic variation has also recently been leveraged as a randomizing factor to identify environmental causes of trait differences. This technique—Mendelian randomization—offers some solutions to traditional epidemiological challenges, although it is limited to the study of environments with known genetic influences.

Author Profiles

Kate Lynch
Trinity College, Dublin
Kate E. Lynch
Macquarie University

Analytics

Added to PP
2022-06-10

Downloads
417 (#54,782)

6 months
106 (#50,856)

Historical graph of downloads since first upload
This graph includes both downloads from PhilArchive and clicks on external links on PhilPapers.
How can I increase my downloads?