Research progress of lipoprotein lipase gene mutation in patients with hypertriglyceridemia / 中华检验医学杂志

ABSTRACT

Hypertriglyceridemia is a syndrome characterized by abnormal triglyceride synthesis or degradation. High triglycerides is an independent risk factor for cardiovascular disease. Some study found that in addition to lifestyle, such as nutrition and their own activities, the genetic factors also determine the concentration of plasma triglycerides. Lipoprotein lipase is a rate-limiting enzyme for triglyceride degradation, which plays an important role in lipid metabolism, insulin resistance, and adipocyte differentiation. In recent years, family analysis and genome-wide association analysis (GWAS) have identified genes associated with hypertriglyceridemia, including the LPL gene, which mutates to reduce lipoprotein esterase activity and affect its protein content, resulting in hypertriglyceridemia. This paper reviewed the LPL gene structure, function, expression regulation, commonly used detection method and the relationship between LPL gene mutation and hypertriglyceridemia.