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PLOS Papers on Adverse Drug Reaction GWAS, Rare Variant Gene Regulators, Ovarian Cancer MicroRNAs

In PLOS Genetics, researchers from Vanderbilt University Medical Center and elsewhere outline findings from a genome-wide association study on adverse drug reactions (ADR) to common drugs or drug group representatives. Using array-based genotyping profiles, imputed genotyping clues, and drug allergy insights in electronic health record (EHR) data for more than 81,700 Vanderbilt BioVU DNA Biobank participants of European or African ancestry, the team narrowed in on seven loci linked to ADRs for 14 commonly prescribed drugs or drug types in European individuals — a set that encompassed variants in genes previously linked to adverse responses to opioid drugs such as CYP2D6 and OPRM1. From these and other results, the authors suggest that the high-throughput approach used "can enable impactful pharmacogenomic research to help develop clinical guidelines for the delivery of the right drug to the right person."

A team from the US and Korea documents rare variants with apparent ties to gene expression regulation across dozens of human tissue types for another paper in PLOS Genetics. With the help of an analytical approach called a "likelihood ratio test for quantitative traits" (LRT-q), the investigators analyzed whole-genome sequence and RNA sequence data spanning samples from 49 tissue types in nearly 700 Genotype-Tissue Expression (GTEx) project participants of European ancestry, highlighting genes with particularly pronounced expression patterns or disease associations that appeared to be regulated by rare rather than common variants. "These results demonstrate the functional effects of rare variants, especially on gene expression," they report, "which provides important biological insights in understanding the genetic mechanism of rare variants in complex traits and diseases."

For a paper appearing in PLOS One, a team from Denmark explores microRNA expression profiles in epithelial ovarian cancer, in an effort to find potential miRNA markers of disease stage, treatment response, or patient outcomes. Based on array-based miRNA analyses of epithelial ovarian cancer samples from almost 200 participants in the Pelvic Mass study from 2004 to 2010, the researchers focused in on a miRNA called miR-130a that appeared to coincide with more advanced epithelial ovarian cancer cases and with the presence of serous tumor histology, while flagging a handful of other miRNAs that were associated with other clinical or pathological tumor features. "This study continues our work to advance the knowledge of miRNA as a biomarker for clinical outcomes in [ovarian cancer]," the authors write, concluding that miR-130a "may be of prognostic importance for patients with [epithelial ovarian cancer]," though miRNA profiling studies in larger ovarian cancer groups are needed.