Genes 2 Brains 2 Mind 2 Me

Thinking of bragging about the large size of your brain-function genes?

Brain-function genes can be very large.  Genetic variation – specifically, copy number variation (CNV) – is often found in brain-function genes in populations with mental disability … but … not much more often than in healthy populations.

To demonstrate the potential impact of confounders, we genotyped rare CNV events in 2,415 unaffected controls with Affymetrix 6.0; we then applied standard pathway analyses using four sets of brain-function genes and observed an apparently highly significant enrichment for each set. The enrichment is simply driven by the large size of brain-function genes.

The full story and a new statistical test – that aims to control for this confounding effect of large brain-function genes.  More on chromosomal structural variation and schizophrenia here.