In Nature Genetics this week, a University of Michigan, Ann Arbor-led team reports the identification of new susceptibility loci for diverticular disease — a condition characterized by the outpouching of the large intestine. The investigators performed a genome-wide association study of more than 27,000 individuals with the condition and more than 380,000 controls, uncovering 42 loci associated with diverticular disease including 39 novel ones. Genes in the loci are associated with immunity, extracellular matrix biology, cell adhesion, membrane transport, and intestinal motility, and further analysis of the variants reveals a common etiology of diverticular disease with obesity and hernia. "This work provides a framework for future functional studies and identifies possible targets for therapeutic development," the authors write. GenomeWeb has more on this study, here.
And in Nature Communications, Washington University School of Medicine researchers and their collaborators describe finding uncommon mutations that can negatively affect disease prognosis in estrogen receptor-positive breast cancer. The investigators performed targeted sequencing of 83 genes using DNA from primary breast cancer samples in hormone receptor-positive patients — both postmenopausal and premenopausal — and find poor clinical outcomes in estrogen receptor-positive breast cancer associated with mutations in the genes NF1, PIK3R1, and DDR1. The results suggest that uncommon recurrent somatic mutations should be studied closely in order to better understand the highly variable outcomes observed in this cancer. GenomeWeb also covers this, here.