Research Roundup: October 5, 2018

Learning more about lipid loci, and putting genetic-guided medicine to the test.

McGovern Institute, Justin Knight
Credit: McGovern Institute, Justin Knight

Welcome to the October 5, 2018 installment of Research Roundup, a recurring snapshot of recent studies published by scientists at the Broad Institute and their collaborators.

More lipid loci, and the search for lipid genes’ other roles

The right information can lead researchers from trait to gene and on to other traits. Case in point: Leveraging health and genotype data from 300,000+ veterans in the Veterans Affairs’ Million Veteran Program, Derek Klarin; institute member, Cardiovascular Disease Initiative director, and Program in Medical and Population Genetics (MPG) co-director Sekar Kathiresan; and colleagues ran a genome-wide association study that newly links 118 genetic loci with blood lipids levels. They then ran the reverse: a phenome-wide association study looking for novel links between known lipid drug target genes and non-lipid traits. Their findings, reported in Nature Genetics, suggest that certain lipid-lowering drugs might work against abdominal aortic aneurysms and type 2 diabetes as well.

Banking on biobank to predict disease risk

The Estonian Genome Center is a large-scale, population-based biobank that integrates health records and genomic profiles of 52,274 individuals, thus making it a valuable data source for clinical disease management. Researchers led by Tonu Esko of Broad’s MPG and University of Tartu, Estonia, together with Pradeep Natarajan and Sekar Kathiresan, used a recall-by-genotype approach to identify individuals with familial hypercholesterolemia (FH) and assess their clinical management in a personalized manner. FH is a single gene disorder caused by damaging mutations in the LDLR, APOB, or PCSK9 genes, ultimately increasing the risk of premature coronary heart disease. Read more in Genetics in Medicine.

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