Skip to main content
Premium Trial:

Request an Annual Quote

Coronary Artery Disease Risk Loci, Candidate Genes Identified in GWAS Meta-Analysis

For a paper in Nature Genetics, a team from Massachusetts General Hospital, the Broad Institute, the University of Cambridge, and elsewhere present findings from a large coronary artery disease (CAD) genome-wide association study. With genotyping profiles for more than 210,842 cases and almost 1.2 million controls, the team initially identified 241 CAD associations, uncovering another 38 risk loci through a cross-ancestry meta-analysis. In their follow-up fine mapping and functional analyses, including CRISPR-Cas9-based gene editing experiments, the authors focused in on 220 candidate causal genes, including a Rho-GTPase-related, myosin protein-coding gene called MYO9B. "[W]e experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility," the authors write, noting that "experimental evidence is ultimately required to confirm causal mechanisms at all unresolved CAD risk loci."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.