An international consortium of scientists has analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes. The study, one of the largest known of its type, includes data from people of European, African American, Hispanic/Latino, East Asian, and South Asian ancestries.
The researchers identified four genes with rare variants that affect diabetes risk. These genes and the proteins they encode are potential targets for new medicines and may improve understanding and treatment of the disease.
“These results demonstrate the importance of studying large samples of individuals from a wide range of ancestries,” said senior author Dr. Michael Boehnke, professor of biostatistics at the University of Michigan School of Public Health. “Most large population studies focus on individuals of European ancestry, and that can make it hard to generalize the results globally. The more diverse the cohort makes for better, more informative science.”
“We now have an updated picture of the role of rare DNA variations in diabetes,” said first author Dr. Jason Flannick, assistant professor of pediatrics at Harvard Medical School and the Division of Genetics and Genomics at Boston Children’s Hospital and an associate member of the Broad Institute of MIT and Harvard. “These rare variants potentially provide a much more valuable resource for drug development than previously thought. We can actually detect evidence of their disease association in many genes that could be targeted by new medications or studied to understand the fundamental processes underlying disease.”Friday Letter Submission