The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.

ABSTRACT:

Objective

APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Small changes in the structure and function of APOB can cause major problems in lipid metabolism. Two forms of APOB are produced by an editing process of gene replication. APOB48 is required for the production of chylomicrons in the small intestine and APOB100 is essential in liver for the production of very low density lipoprotein (VLDL) and is also a ligand for LDL receptor (LDLR) that mediates LDL endocytosis.

Materials and methods

In t

SUBMITTER: Karami F 

PROVIDER: S-EPMC6275425 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature