The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.

ABSTRACT: Atherosclerotic cardiovascular disease (ASCVD) affects more than 1 in 3 American adults. Hypercholesterolemia is a major treatable risk factor for ASCVD, yet many individuals fail to reach target levels of LDL-cholesterol (LDL-C) through the use of statins and lifestyle changes. The E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP; also known as IDOL) is a recently identified regulator of the LDL receptor (LDLR) pathway. Genome-wide association studies (GWASs) in populations of mixed European descent have identified noncoding variants in the MYLIP region as being associated with LDL-C levels, but no underlying functional variants were pinpointed. In order to fine-map actual susceptibility variants, we studied a population demographically distinct from the discov

SUBMITTER: Weissglas-Volkov D 

PROVIDER: S-EPMC3148733 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature