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.
The Center for Genomic Medicine (CGM) comprises one of the largest and most vibrant hubs of genomic medicine research in the world. The CGM includes 46 faculty collaborating to define the ‘genomic medicine cycle’ – which envisages a genomics community seeking to advance research from basic genomics research to ultimately using genome information for diagnostics and targeted therapeutics. All of our investigators are faculty at Harvard Medical School, and many members of our community are also investigators at the Broad Institute of Harvard and MIT.
