|
||
|
|
||
Thus we should ask the broader question: What is the frequency and spectrum of LDL receptor mutations (and mutations in other genes encoding proteins that influence LDL receptor function) in patients with hypercholesterolemia - for example, in patients who present with early coronary disease? And what is the spectrum and frequency of these mustations, in fact, in the general population?
We don't really know the answer to this. There is a great deal of whole exome sequencing being done at the present time, and the near future may bring a lot more information that addresses the specific question of, What is the true frequency of LDL receptor mutations in the general population and in those subsets of the population who present with high serum LDL-C concentrations?