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PLOS Papers on Frozen Shoulder GWAS, Epstein-Barr Effects on Immune Cell Epigenetics, More

In PLOS Genetics, researchers from the University of Exeter Medical School and the Royal Devon and Exeter Hospital share findings from a genome-wide association study focused on finding genetic variants linked to a condition known as frozen shoulder. With the help of genotyping and clinical clues for more than 10,100 UK Biobank participants and in a validation cohort comprised of nearly 177,000 participants from the FinnGen study, the team narrowed in on five loci with significant ties to frozen shoulder in individuals with diabetes, including a variant previously implicated in Dupuytren's disease. A subsequent Mendelian randomization analysis suggested type 1 diabetes can be a causal risk factor for frozen shoulder, the authors report, adding that the new findings "provide evidence of biological mechanisms involved in this common painful condition."

A Wistar Institute-led team tracks epigenetic patterns in B lymphocyte cells infected with Epstein-Barr virus (EBV) for a paper in PLOS Pathogens, uncovering apparent regulatory shifts in EBV-infected B lymphocyte sub-populations with or without the ability to infiltrate the central nervous system (CNS). Using RNA sequencing, chromatin immunoprecipitation-quantitative PCR, ATAC-seq, and other approaches, the investigators flagged genes with altered expression in the neuroinvasive EBV-positive B cell lymphoma cells compared to a B cell lymphoma line with low CNS trafficking potential, along with related regulatory shifts. "These studies indicate that B-cell trafficking to the CNS can be acquired by epigenetic adaptations and provide a new model to study B-cell neuroinvasion-associated CNS lymphoma and autoimmune disease of the CNS, including multiple sclerosis," the authors suggest.

In a PLOS One paper, investigators at Tianjin Xiqing Hospital, the Logistic University of Chinese People's Armed Police Force, and other centers in China search for informative gene expression changes in papillary thyroid cancer (PTC). Based on an analysis of available array-based gene expression data on 63 PTC samples and 55 samples from unaffected thyroid tissues, the team saw more than 100 genes with higher-than-usual expression in the cancer samples, along with almost 200 genes found at diminished expression in PTC. The authors considered these differentially expressed genes in the context of a protein interaction network analyses and clinical insights, identifying genes linked to PTC development and outcomes. "[T]he integrated analysis provided insights for the development of new biomarkers for PTC," they write, "which may be valuable for conducting further researcher into the mechanisms of PTC as well as for use in clinical applications in diagnosis, prognosis, and therapy."

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.