Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Medicine and Health Sciences
Resolving The Longitudinal Triglyceride Phenotype Of Heterozygous Lpl And Apo A-V Deficiency, Shehan D. Perera
Resolving The Longitudinal Triglyceride Phenotype Of Heterozygous Lpl And Apo A-V Deficiency, Shehan D. Perera
Electronic Thesis and Dissertation Repository
Hypertriglyceridemia (HTG) is a risk factor for cardiovascular disease. However, only the triglyceride (TG) phenotype produced by biallelic loss-of-function (LOF) variants in the canonical TG metabolism genes is well understood. The TG phenotype produced by monoallelic LOF variants is poorly understood. We aimed to evaluate the TG phenotype associated with monoallelic LOF variants in the canonical TG metabolism genes.
Next-generation sequencing panel was employed to identify patients heterozygous for LOF variants in two of the canonical TG metabolism genes LPL and APOA5, followed by chart review to determine baseline and longitudinal TG phenotype in these patients.
My findings suggest …