This time our reading group explored the really very tricky topic of heritability. We looked at the following paper:

Cotsapas, C (2018) Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk, Cell 175, 1679–1687

One of our number (who would like to remain anonymous) did a really useful presentation on genetics, heritability and what this paper means in that context. They have kindly allowed me to post their powerpoint.

What I took away from the presentation and our discussion the following:

  • Common gene variants contribute about 20% of the heritability of MS.
  • Genome Wide Association Studies (GWAS) can help identify rare variations in genes, but the paper we looked at only found variants contributing an additional 5% of heritability.
  • While this did identify genes involved in systems not studied for their contribution to MS (looking at you natural killer cells), there are diminishing returns.
  • Are further GWAS worth it, or would limited funding be better spent elsewhere?