Critical reasoning on causal inference in genome-wide linkage and association studies.
Document Type
Article
Publication Date
2010
Keywords
Bayes-Theorem, Genome-Wide-Association-Study, Humans, Models-Genetic, Phenotype, Quantitative-Trait-Loci
First Page
493
Last Page
498
JAX Source
Trends Genet 2010 Dec; 26(12):493-8.
Abstract
Genome-wide linkage and association studies of tens of thousands of clinical and molecular traits are currently underway, offering rich data for inferring causality between traits and genetic variation. However, the inference process is based on discovering subtle patterns in the correlation between traits and is therefore challenging and could create a flood of untrustworthy causal inferences. Here we introduce the concerns and show that they are already valid in simple scenarios of two traits linked to or associated with the same genomic region. We argue that more comprehensive analysis and Bayesian reasoning are needed and that these can overcome some of the pitfalls, although not in every conceivable case. We conclude that causal inference methods can still be of use in the iterative process of mathematical modeling and biological validation.
Recommended Citation
Li Y,
Tesson BM,
Churchill GA,
Jansen RC.
Critical reasoning on causal inference in genome-wide linkage and association studies. Trends Genet 2010 Dec; 26(12):493-8.