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This Week in PLOS: Aug 13, 2018

In PLOS Genetics, researchers from the University of Chicago, Loyola University Chicago, and elsewhere explore the genetic architecture mediating gene expression in more than 1,100 individuals from diverse populations. Starting with SNP and blood monocyte cell expression data from the Multi-Ethnic Study of Atherosclerosis, the team searched for expression quantitative trait loci in African-American, Hispanic, and European populations, based on 233, 352, and 578 representatives from each population, respectively. In the process, the authors uncovered a small subset of genes with expression that was better predicted in one population than another, due to allele frequency differences, informing the development of predictive models that were subsequently tested with data from several other large population cohorts.

A team from Purdue University and Johns Hopkins University describe a form of invasive urothelial carcinoma that occurs in dogs that resembles invasive bladder cancers from humans for another PLOS Genetics paper. The researchers did RNA sequencing on 29 treatment-naïve canine invasive urothelial carcinomas, comparing the transcriptomes to those found in four normal canine bladder mucosal samples and the CanFam 3.1 database to uncover clusters of differentially expressed genes that resembled those found in basal or luminal bladder cancer subtypes from humans. "[T]he findings of our study provide further compelling evidence that canine [invasive urothelial carcinoma] is a highly relevant model of human [invasive urothelial carcinoma] for translational research," they report, noting that clinical trials in canines "can be used to select the most promising strategies to take into human trials … benefiting humans as well as pet dogs."

Researchers from the Medical University of Innsbruck and elsewhere report on blood-based metabolomic patterns in multiple myeloma for a study in PLOS One. Using blood samples from 32 newly diagnosed multiple myeloma patients, 19 individuals with relapsed or refractory multiple myeloma, and 15 individuals with a condition called monoclonal gammopathy of undetermined significance (MGUS) that can lead to multiple myeloma, the team profiled peripheral blood levels of 188 metabolites with mass spectrometry and other approaches. Through comparisons with blood metabolite patterns in 25 healthy controls, the authors uncovered distinct metabolite profiles in blood samples from individuals with multiple myeloma, relapsed multiple myeloma, or the MGUS precursor condition. Based on their results, they suggest that "different metabolic processes … can serve as novel promising therapeutic targets in [multiple myeloma]."

The Scan

Genetic Ancestry of South America's Indigenous Mapuche Traced

Researchers in Current Biology analyzed genome-wide data from more than five dozen Mapuche individuals to better understand their genetic history.

Study Finds Variants Linked to Diverticular Disease, Presents Polygenic Score

A new study in Cell Genomics reports on more than 150 genetic variants associated with risk of diverticular disease.

Mild, Severe Psoriasis Marked by Different Molecular Features, Spatial Transcriptomic Analysis Finds

A spatial transcriptomics paper in Science Immunology finds differences in cell and signaling pathway activity between mild and severe psoriasis.

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.