In PLOS Genetics, researchers from Northwestern University, the University of Michigan, and Vanderbilt University present a "LabWAS" approach for using genetic data and quantitative clinical laboratory test result-based phenotypes found in electronic health records (EHR) for genome-wide association studies. For proof-of-principle analyses, the team validated almost 700 prior genetic associations involving 46 traits, and uncovered dozens of new trait associations, through a GWAS meta-analysis focused on 70 traits in participants from Vanderbilt University's BioVU cohort and Michigan Medicine's Michigan Genomics Initiative. "The high replication rate for known GWAS variants indicates that EHR lab traits can be well-matched between discordant health systems and that measurements taken during real-life medical interactions sufficiently reflect those taken under more idealized experimental conditions," the authors write.
A team from Thailand takes a look at potential blood-based microRNA markers for severe leptospirosis for a small prospective study in PLOS Neglected Tropical Diseases. Using a NanoString miRNA expression assays, the researchers profiled miRNA expression patterns in blood plasma and serum samples from a dozen individuals with non-severe or severe forms of leptospirosis, using quantitative RT-PCR to follow up on half a dozen candidate miRNA markers showing higher-than-usual levels in blood samples from individuals with severe leptospirosis, marked by a complication called "specific organ sequential organ failure," or SOFA. "Our data provided the first evidence that microtranscriptome profiles of severe leptospirosis were different from the non-severe group," they report, noting that "[s]erum miR155-5p and miR630 might be novel biomarkers for identifying severe leptospirosis."
Investigators from the "Cohorts for heart and aging research in genomic epidemiology" (CHARGE) consortium report on genetic loci with apparent ties to myocardial infarction and coronary heart disease for a paper in PLOS One. Using genotyping profiles for tens of thousands of individuals of European ancestry from CHARGE, the team searched for variants that were over-represented in thousands of CHARGE participants with myocardial infarction or coronary heart disease, focusing in on myocardial infarction- or coronary heart disease-related genes such as PLCL1, TMPRSS5, LDLRAD1, RC3H2, and ANGPTL4 that were implicated through variant- and gene-based analyses.