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PLOS Papers Look at Vascular Disease Risk, Campylobacter in Cattle, Ovarian Cancer-Associated Microbes

In PLOS Genetics, investigators from the US, the UK, and Sweden report on a possible role for TWIST1 gene expression in vascular disease risk. To more fully characterize variants implicated in past genome-wide association studies of coronary artery disease and other vascular conditions, the team did deep RNA sequencing on genotyped vascular endothelial and coronary artery smooth muscle tissues, searching for cell-type-specific expression quantitative loci, alternative splicing, and other regulatory features that might explain the risk SNP associations. For example, the authors found that a coronary artery disease risk SNP on chromosome 7 seemed to influence the expression of TWIST1 — a gene with an apparent role in smooth muscle features — while additional risk SNPs coincided with distinct splicing or allele-specific expression profiles for still other genes.

A team from Portugal and Switzerland characterizes a previously unappreciated Campylobacter species. As they report in PLOS One, the researchers assessed a handful of isolates collected from Bos taurus bulls, focusing on isolates from so-called preputial mucosa — an inner mucosal membrane of the penis — in bulls from a herd in Portugal with reproductive problems suspected of stemming from a Campylobacter genital infection. After identifying a Campylobacter species with distinct phylogenetic features and gene markers, the investigators put together a whole-genome sequence for one of the preputial mucosal isolates, teasing out virulence factors and other key features in the proposed new species, dubbed Campylobacter portucalensis. "The distinct phenotypic and genotypic characteristics of the bacterial isolates confirm the identification of a novel species within the Campylobacter genus," the authors conclude, noting that the pathogenic effects of the bug, if any, are yet to be determined.

Researchers from Southern Illinois University School of Medicine, the University of Virginia, and elsewhere describe ovarian cancer diagnostic clues that may be found in the peritoneal microbial community features for another PLOS One paper. In an effort to come up with more reliable strategies to screen for epithelial ovarian cancer, the team used targeted 16S ribosomal gene sequencing to take a look at the microbial representatives found in blood and peritoneal fluid samples from 30 individuals undergoing surgery for ovarian cancer or benign ovarian masses. Among other things, the authors found 18 microbial operational taxonomic units with apparent ties to ovarian pathology, prompting them to suggest that the pathogenesis of the reproductive system cancer may alter the peritoneal microbiome in characteristic ways that might be exploited in future diagnostic efforts.

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.