Monday, March 30, 2009

Connections between Mendelian diseases and natural variation   posted by p-ter @ 3/30/2009 07:49:00 PM

I've written before about a pattern emerging from genome-wide association studies--genes in which mutations cause rare extreme forms of a phenotype often harbor common variation that influence natural, non-disease variation in that same phenotype. A pair of new studies on variation in cardiac repolarization (summarized here) provide an additional example of this pattern.

It's worth noting that this was something of an obvious hypothesis--candidate gene association studies often targeted gene known to cause Mendelian disorders when mutated. In retrospect, the reason these studies were often inconclusive was a simple lack of power.