Genetic and functional studies of the gene in Thai patients with severe hypertriglyceridemia.

Severe hypertriglyceridemia (HTG) due to chylomicronemia is associated with acute pancreatitis and is related to genetic disturbances in several proteins involved in triglyceride (TG) metabolism. Lipase maturation factor 1 (LMF1) is a protein essential for the maturation of lipoprotein lipase (LPL). In this study, we examined the genetic spectrum of the gene among subjects with severe HTG and investigated the functional significance of 6 genetic variants .

Clinical and functional studies of two novel variants in the LPL gene in subjects with severe hypertriglyceridemia.

Background: Two novel variants (p.Arg270Gly and p.Asp308Glyfs*3) in the LPL gene have recently been identified in subjects with hypertriglyceridemia (HTG).

Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.

Background: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors. Few data exist on the genetics of severe hypertriglyceridemia in Asian populations.

Objective: To examine the genetic variants of 3 candidate genes known to influence triglyceride metabolism, LPL, APOC2, and APOA5, which encode lipoprotein lipase, apolipoprotein C-II, and apolipoprotein A-V, respectively, in a large group of Thai subjects with severe hypertriglyceridemia.