The Meaning of “Cause” in Genetics
- 22 March 2021
- journal article
- research article
- Published by Cold Spring Harbor Laboratory in Cold Spring Harbor Perspectives in Medicine
- Vol. 11 (9), a040519
- https://doi.org/10.1101/cshperspect.a040519
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.Keywords
This publication has 101 references indexed in Scilit:
- High Trans-ethnic Replicability of GWAS Results Implies Common Causal VariantsPLoS Genetics, 2013
- A Critical Review of the First 10 Years of Candidate Gene-by-Environment Interaction Research in PsychiatryAmerican Journal of Psychiatry, 2011
- Longitudinal pathways from marital hostility to child anger during toddlerhood: Genetic susceptibility and indirect effects via harsh parenting.Journal of Family Psychology, 2011
- Child Health, Developmental Plasticity, and Epigenetic ProgrammingEndocrine Reviews, 2010
- Common SNPs explain a large proportion of the heritability for human heightNature Genetics, 2010
- Missing heritability and strategies for finding the underlying causes of complex diseaseNature Reviews Genetics, 2010
- Finding the missing heritability of complex diseasesNature, 2009
- Alcohol Intake and Blood Pressure: A Systematic Review Implementing a Mendelian Randomization ApproachPLoS Medicine, 2008
- Genetic determinants of hair, eye and skin pigmentation in EuropeansNature Genetics, 2007
- A common variant of HMGA2 is associated with adult and childhood height in the general populationNature Genetics, 2007