In PLOS Genetics, an international team led by investigators in Oklahoma characterizes a locus in and around the OAS1 gene implicated in an autoimmune condition called Sjogren's syndrome, which involves altered exocrine system activity. By combining array-based transcriptome patterns in blood samples from 115 individuals with Sjogren's syndrome and 56 unaffected controls with genetic association data from 765 cases and more than 3,800 controls, the researchers narrowed in on potential expression quantitative trait loci for the disease, which were subsequently replicated a separate cohort. In cell line experiments, they saw signs that a Sjogren's syndrome-associated variants at an OAS1 locus led to shifted splicing of the gene and potential consequences for type 1 interferon activity.
A PLOS Neglected Tropical Diseases paper tracks gene expression in individuals infected with Burkholderia pseudomalleii, a soil-associated pathogen that causes an infectious disease called melioidosis. Researchers from the Genetech Research Institute in Sri Lanka, the La Jolla Institute of Allergy and Immunology, and elsewhere used RT-qPCR to assess levels of 19 genes involved in immune response and half a dozen genes influencing related epigenetic profiles in samples from 30 individuals with melioidosis, 10 individuals with sepsis, and 10 unaffected controls. Their results highlighted host expression patterns that appeared to be specific to melioidosis cases, pointing to immune responses that may eventually serve as markers for the disease.
A team from Uganda, the UK, Malawi, and the US describe rotavirus reassortment events it identified by sequencing two dozen human and animal strains of so-called "rotaviruses of species A" (RVA) collected in Uganda over two years. As they report in PLOS One, the investigators did whole-genome sequencing on 18 human and six domestic animal strains, uncovering evidence of transmission and sequence-swapping between strains in humans and other animals. "Whereas previous reports on RVA evolution have been mainly on RVA transmission from animals to humans, this study suggests that domestic animals may also become infected by RVAs from humans," the authors write, noting that rotavirus reassortment "may lead to the emergence of novel rotavirus strains."