The largest sequencing study in history has been linked to a rare DNA change linked to type 2 diabetes

From this large group -- about 21,000 people with type 2 diabetes and 25,000 healthy control participants -- the researchers identified four rare variants that can affect the risk of diabetesThe data suggest that hundreds more genes could be found in the futurethese genes and the proteins they encode are potential targets for new drugs and may guide researchers to better understand and treat diabetesimage source: Natureall of the team's results are available through the Type 2 Diabetes Knowledge Portal, which allows scientists around the world to access and use this information for their own research"These results show the importance of studying a large number of individual samples from different ancestors," said senior study author Michael Boehnke, professor of biostatistics at the University of Michigan School of Public Health and director of the Center for Statistical Genetics at theUniversity of Michigan School of Public HealthMost large population studies focus on individuals of European descent, which makes it difficult to roll out the results globallyThe more diverse the group, the more scientific it is, and the more information it hasJason Flannick, lead author of thestudy, said: "We now have an updated understanding of the role of rare DNA variants in diabetesThese rare mutations may provide more valuable resources for drug development than previously thoughtIn fact, we can find evidence of their disease in many genes that could be used as a target for new drugs and as a basic process for diseaseFlannick is an assistant professor of pediatrics at Harvard Medical School, a professor of genetics and genomics at Boston Children's Hospital, and an associate researcher at the Massachusetts Institute of Technology (MIT) and the Broad Institute of Research at Harvard Universityother senior authorsinclude Mark McCarthy, a professor of diabetes medicine at The University of Oxford, and Jose Florez, director of the Endocrinology and Diabetes Department at Massachusetts General Hospital, professor of medicine at Harvard Medical School and director of the Broad Institute's Diabetes Research GroupThe study was published recently in Nature global concern
according to the World Health Organization, more than 400 million people worldwide have diabetes The vast majority of these cases are people with type 2 diabetes Diabetes is estimated to be the seventh leading cause of death in the world Although researchers already know that lifestyle and environmental factors play an important role in type 2 diabetes, it is necessary to have a better understanding of the biological mechanisms that drive the disease in the study, researchers sequenced so-called "exomes", that is, only the areas of the genome that encode proteins another way to find disease-related mutations is the Broad Genome Association (GWAS) This method can be very effective in detecting common disease variants throughout the genome, but may miss less common exobiota group variations This is critical because, although rare exosome group mutations are extremely difficult to detect, they can provide valuable knowledge of disease-related genes and, in turn, lead to new drug targets therefore, the researchers plan to increase the sample size in future studies This may be the largest exobiome sequencing study of type 2 diabetes, with a queue of nearly 50,000 people, but even the rare ester that affects the most, as the authors note in the paper, could require between 75,000 and 185,000 samples "It's important to remember that just because we're detecting mutations in protein-coded DNA, we can't make a breakthrough in the number of samples needed to detect significant effects," said Jose Florez, a The effects of these changes may be powerful, but because they are so rare, we still need to increase the sample size in order to truly yield compelling insights References: Jason Flannick et al Exome saming of 20,791 cases of type 2 diabetes and 24,440 controls, Nature (2019) DOI: 10.1038/s41586-019-1231-2