In PLOS Genetics, researchers from the University of Bonn and elsewhere describe chromosome 5 variants behind a urinary/rectal malformation condition called classic bladder exstrophy, which occurs due to glitches during embryonic development. The team tracked down the SNPs through a GWAS involving 110 individuals of European ancestry with the condition and nearly 1,200 without. In that group and in a meta-analysis that included hundreds more cases and controls, the study's authors identified bladder exstrophy-associated variants in and around a chromosome 5 region that included ISL1, a gene that seems to be expressed during genital development.
A PLOS One study outlines copy number variants detected in childhood cancer survivors who went on to develop breast cancer — a disease that's more common in those exposed to ionizing radiation-based cancer treatment. A National Institutes of Health-led team did array comparative genomic hybridization-based copy number analyses on samples from 32 individuals with breast cancer enrolled through the Childhood Cancer Survivor Study. Each of the individuals had been treated with chest irradiation as part of their treatment for childhood cancer, typically Hodgkin lymphoma. While many of the copy number gains and losses resembled those described in sporadic breast cancer cases, researchers note, a chromosome 17 region harboring the HER2 gene was amplified more often than usual in the ionization exposed breast cancer cases.
A team from China and the US explores the microRNA profiles present in the blood and cerebrospinal fluid of individuals with major depressive disorder for another PLOS One paper. Using a PCR panel that included 179 miRNAs that appear to show pronounced serum expression in individuals with MDD, the researchers tested CSF samples from six individuals with the condition and six without, as well as blood samples from dozens more cases and controls. The search led to three miRNAs with higher-than-usual expression in both CSF and blood samples from individuals with major depressive disorder, along with one miRNA showing decreased CSF and blood expression.