The impact of genomics on personalized medicine in Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is the most common inherited form of high cholesterol which is characterized by severely elevated serum LDL cholesterol levels. Increased amount of LDL results in production of atherosclerotic plaque in the coronary arteries and proximal aorta at an early age, leading to an early onset of cardiovascular disorders. The aim of our study is to review recent genomics related techniques and their impact on personalized medicine and management of individuals with FH. There are a number of indicative criteria for FH. Among these, molecular diagnosis of FH through identification of a heterozygote or homozygote individuals for pathogenic variants in one of the three genes known to be associated with FH consists of APOB, LDLR, and PCSK9, is available. Since about 20-40% of cases remained as unknown genetic cause, recent techniques such as genome wide association studies (GWAS), exome sequencing, and newly exome chip studies can be helpful to find novel genes with effects on LDL cholesterol. These findings may have a significant impact on personalized medicine, pharmacogenomics and management of FH patients. Such new perspectives will likely require a standard shift toward further integrated and comprehensive approaches for better prevention and treatment of FH in both individuals and the population as a whole.

کلیدواژه ها:

Familial hypercholesterolemia ، personalized medicine ، genomics