Rare Protein-truncating Variants in APOB, Lower LDL-C, and Protection Against Coronary Heart Disease.

08:00 EDT 2nd April 2019 | BioPortfolio

Summary of "Rare Protein-truncating Variants in APOB, Lower LDL-C, and Protection Against Coronary Heart Disease."

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding apolipoprotein B ( APOB), the major protein component of low-density and triglyceride-rich lipoprotein particles. Whether heterozygous APOB deficiency is associated with decreased risk for coronary heart disease (CHD) is uncertain. We combined family-based and large scale gene-sequencing to characterize the association of rare PTVs in APOB with circulating low-density lipoprotein cholesterol (LDL-C), triglycerides, and risk for CHD.


Journal Details

This article was published in the following journal.

Name: Circulation. Genomic and precision medicine
ISSN: 2574-8300


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