CirculationSep 1, 2026

Classifying LDLR Gene Variants Using Activity-Adjusted Prime Editing Tests

CRISPR Gene Editing Weekly Brief ↗PubMed ↗DOI ↗

Updated Sep 2, 2026

Abstract

Inherited variants in the LDL receptor gene are the most common cause of familial hypercholesterolemia.

Familial hypercholesterolemia is associated with significantly increased risk of coronary artery disease.
Early detection of pathogenic LDLR variants may facilitate timely lipid-lowering therapy.
Cascade testing for at-risk relatives could improve management of familial hypercholesterolemia.
Most LDLR variants found in the population lack clear clinical classification, which may hinder patient care.

Simplified

Inherited variants in the LDL (low-density lipoprotein) receptor (LDLR) gene are the most common cause of familial hypercholesterolemia, significantly increasing coronary artery disease risk. Early identification of pathogenic LDLR variants enables prompt lipid-lowering therapy and cascade testing of at-risk relatives; however, most LDLR variants observed in the population have uncertain or absent clinical classifications, leaving many patients without actionable information.

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