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Article

Rare Protein-Truncating Variants in APOB , Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

1 May 2019

Abstract excerpt

Background Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) 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...

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PMID: 30939045
DOI: 10.1161/circgen.118.002376

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