Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

ABSTRACT:

Purpose of review

While biallelic rare APOA5 pathogenic loss-of-function (LOF) variants cause familial chylomicronemia syndrome, heterozygosity for such variants is associated with highly variable triglyceride phenotypes ranging from normal to severe hypertriglyceridemia, often in the same individual at different time points. Here we provide an updated overview of rare APOA5 variants in hypertriglyceridemia.

Recent findings

Currently, most variants in APOA5 that are considered to be pathogenic according to guidelines of the American College of Medical Genetics and Genomics are those resulting in premature termination codons. There are minimal high quality functional data on the impact of most rare APOA5 missense variants; many are considered as variants of unknown or uncerta

SUBMITTER: Perera SD 

PROVIDER: S-EPMC10919278 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature