An alternative effector gene at the type 2 diabetes-associated TCF7L2 locus?

Excerpt

After a decade of genome-wide association studies of ever increasing size, there are currently around 100 regions of the genome that are robustly implicated in the risk for developing type 2 diabetes [1]. Now the challenge is to translate these statistical associations into new biological understanding and, subsequently, novel opportunities for prevention and treatment. Across all the genetic regions implicated in type 2 diabetes risk, comparisons with physiological information from individuals without diabetes allow us to point at a primary role for defects in insulin processing and secretion [2]. However, identifying the molecular mechanisms involved at individual loci has proven more challenging. One of the major hurdles is that the majority of genetic variants associated with type 2 diabetes are in non-coding regions of the genome and therefore do not often have an obvious functional consequence. …