In a follow-up functional genomics study to identify causal variants in a GWAS locus associated with obesity, researchers identified a functional variant in the FTO gene region.
A single nucleotide change in this gene region causes an enhanced expression of IRX3 and IRX5 resulting in a shift to the production of energy storing fat cells, as well as a reduction in mitochondrial thermogenesis. Researchers were also able to engineer cells in which they could regulate this pathway, essentially “turning on” and “turning off” the variant responsible for signatures of obesity.
This study is an example of the utility of GWAS in identifying essential pathways in human biology and disease.
For more information, access the full published article in The New England Journal of Medicine. The NIH Director’s Blog provides an additional resource here.
