Genetic shields against heart disease risk

Protein-truncating variants (PTVs) disrupt a gene’s protein product. To find associations between rare PTVs in two protein-coding genes — APOB and PCSK9 — and low-density lipoprotein (LDL) cholesterol levels and coronary heart disease (CHD) risk, CGM PI, Amit Khera, and colleagues analyzed genomes from participants from five NHLBI studies and exomes from the UK Biobank, totaling over 200,000 individuals. They identified PTVs in 0.4 percent of individuals and found that PTV carriers had both lower LDL cholesterol levels over time and a 49 percent reduction in CHD risk.

Learn more in JAMA Cardiology and Jacqueline’s tweetorial.

June 21, 2023


CGM Primary Investigator

Amit Khera