The effection of gene variation in Familial
TL;DR
An in-depth analysis of the distribution of mutations in the LDLR, PCSK9, and APOB genes, the impact of LDLR, PCSK9, and APOB mutations on FH, and the main mutation types of these three genes in different populations can provide a strong basis for the subsequent development of treatment strategies targeting specific mutation types.
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder characterized by significantly elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, which increases the risk of atherosclerotic cardiovascular diseases (ASCVD). It is usually accompanied by tendinitis xanthomatosis and a family history of early-onset coronary heart disease. Mutations in LDLR, PCSK9, and APOB are the main pathogenic basis of FH. Although there have been many studies on FH in recent years, there has been no clear summary of the mutation types in the population, thus making it impossible to conduct targeted screening and medication for different FH patients. This review conducts an in-depth analysis of the distribution of mutations in the LDLR, PCSK9, and APOB genes, the impact of LDLR, PCSK9, and APOB mutations on FH, and summarizes the main mutation types of these three genes in different populations. This can further summarize the genetic basis of FH and provide a strong basis for the subsequent development of treatment strategies targeting specific mutation types.