In PLOS Genetics, researchers from the University of Helsinki, the Broad Institute, and elsewhere describe potentially protective protein-truncating variants associated with coronary artery disease, type 2 diabetes (T2D), and related blood lipid profiles. Using array-based genotypes for more than 23,400 Finrisk Study participants, along with variants imputed with additional genome or exome sequences data, the team searched for lipid-related protein-truncating variants with additional ties to coronary artery disease, T2D, or other traits, focusing on more than 1,200 genes. The analysis highlighted protein-truncating variants in the ANGPTL8 and ANGPTL4 genes that were linked to lower-than-usual blood serum triglyceride levels and to decreased risk of coronary artery disease or T2D, respectively, and unearthed high-density lipoprotein cholesterol-related variants in other genes. "These findings point to potential target genes for development of novel preventive medication against T2D and [coronary artery disease]," the authors conclude, "and highlight the utility of bottleneck populations in search of associations between protein-truncating variation and biomarkers."
For a paper in PLOS Neglected Tropical Diseases, a team from Brazil takes a look at blood plasma lipidome levels in newborns with or without microcephaly symptoms or other symptoms after exposure to the Zika virus (ZIKV) before birth. Based on liquid chromatography and mass spec-based plasma lipid profiles for 20 Zika virus-exposed infants and 10 unaffected newborns from a hospital in the Brazilian city of Salvador in 2016, the team narrowed in on a handful of plasma lipids linked to antenatal ZIKV exposure, regardless of whether newborns had microcephaly or not. Still, other lipids, particularly plasma hydroxyoctadecadienoic acid levels, appeared to coincide with ZIKV-related microcephaly. "These findings emphasize the need for studies focused on the role of individual lipids in neuropathogenesis of ZIKV and raise the potential of plasma lipidome profiling for early diagnosis of newborns with suspected antenatal ZIKV exposure," the authors report.
Investigators at Xuzhou Medical University outline expression changes in ubiquitination-related genes that seem to correspond with overall survival in individuals with glioma. As they report in PLOS One, the researchers narrowed in on three dozen differentially expressed ubiquitination-linked genes by analyzing levels of more than 900 ubiquitination ligase-linked genes in glioma and unaffected brain tissues from the Cancer Genome Atlas and Genotype-Tissue Expression project. From a set of 25 potentially prognostic genes, the team came up with a model made up of an expression-based model that included eight ubiquitination-related genes, which appeared to predict survival with around 85 percent accuracy in their study.