This lesson is still being designed and assembled (Pre-Alpha version)

Mediation Analysis

Overview

Teaching: 10 min
Exercises: 2 min
Questions
  • What is mediation analysis?

  • How is mediation analysis used in genetics and genomics?

  • How do I explore causal relations with mediation analysis?

Objectives
  • Describe mediation analysis as applied in genetics and genomics.

A non-coding SNP affects expression of gene 1 in cis. Gene 1 mediates expression of gene 2.

Chromosome 13 gene Akr1e1 is affected by expression in both cis and trans by genes on chromosomes 13 and 4.

Chromosome 11 gene Myo15b is affected by expression of a trans gene in the chromosome 2 hotspot.

Mediating expression of Myo15b identifies Hnf4a as the gene that drops the LOD score from greater than 70 to less than 50.

Challenge:

Solution

Key Points

  • Mediation analysis investigates an intermediary between an independent variable and its effect on a dependent variable.

  • Mediation analysis is used in high-throughput genomics studies to identify molecular phenotypes, such as gene expression or methylation traits, that mediate the effect of genetic variation on disease phenotypes or other outcomes of interest.