Overview
- The Science publication details experimentally derived scores for nearly 17,000 coding changes in the LDLR gene that quantify effects on LDL clearance.
- The resource is intended to help clinicians identify familial hypercholesterolemia risk and initiate preventive treatment before heart attacks or strokes occur.
- Study co-author Dan Roden said the scores could increase diagnoses among patients with previously unclassified variants by a factor of ten.
- Authors uncovered a subset of LDLR variants whose LDL uptake is blunted by high very low-density lipoprotein levels, a finding flagged for further investigation.
- The work, led by teams at the University of Pittsburgh, University of Toronto, and VUMC, is part of the Atlas of Variant Effects Alliance and was supported by NHLBI, NHGRI, the One Brave Idea Initiative, and Canadian funders.