2型糖尿病 z-bo 2020-10-07 393

　　United Nations scientists analyzed the genes encoding proteins in about 46,000 people and found that rare DNA changes are related to type 2 diabetes. This study is one of the largest studies of its kind and includes data from European, African American, Hispanic/Latino, East Asian and South Asian ancestry. In this large group (approximately 21,000 type 2 diabetes patients and 25,000 healthy control participants), the researchers identified four rare mutant genes that may affect diabetes risk. These data indicate that hundreds of genes may be discovered in the future. These genes and the proteins they encode are potential targets for new drugs and may enable researchers to better understand and treat diabetes.

　　All results of this group can be obtained from the Type 2 Diabetes Knowledge Portal (Type 2 Diabetes Knowledge Portal). This allows scientists around the world to access this information and use it in their research. Michael Benke, a professor of biostatistics at the Center for Statistical Genetics at the University of Michigan School of Public Health, and senior research author said: "These results show the importance of studying a large number of individual samples from different ancestry. Individuals of European ancestry, it is difficult to promote research on a global scale result.

　　Jason Flanick, the lead author of this study, said: “I have the latest understanding of the role of rare DNA mutations in diabetes. These rare mutations may provide more valuable resources for drug development than previously thought. In fact, it can be found in many genes related to disease. These genes can be used as targets for new drugs and as evidence for studying the basic processes of diseases. Franick is an assistant professor of pediatrics at Harvard Medical School and a member of the genetics and genome at Boston Children's Hospital. He is also an associate research fellow at the Massachusetts Institute of Technology (MIT) and the Broad Harvard Institute (Broad Harvard).

　　Other senior authors include Professor of Diabetes Medicine at Oxford University, Head of Endocrinology and Diabetes at Massachusetts General Hospital, Professor of Medicine at Harvard Medical School and Mark McCarthy of the Diabetes Research Group at the Broad Institute. Including the person in charge. Jose Florez.

　　Global attention

　　According to the World Health Organization, more than 400 million people worldwide suffer from diabetes. Most of these cases are patients with type 2 diabetes. It is estimated that diabetes is the seventh most common cause of death in the world. Researchers already know that lifestyle and environmental factors play an important role in type 2 diabetes, but we need to have a deeper understanding of the biological mechanisms that cause this disease. In this study, the researchers only sequenced the so-called "exome" or the region of the genome that encodes the protein.

　　Another way to find disease-related mutations is the genome-wide association study (GWAS). This method is very effective in finding common disease variants in the entire genome, but it may miss less common exome variants. Although it is difficult to detect rare exome variants, this is because they can provide valuable knowledge of disease-related genes, which can suggest new drug targets. This is very important.

　　Therefore, the researchers intend to increase the sample size in future studies. This is the largest exome sequencing study conducted in type 2 diabetes, with a total of nearly 50,000 people, but as the author pointed out in the paper, even rare variants have the greatest impact, 185,000 samples may be required 75,000-75,000.

　　Jose Florez said: "It is important to remember that detecting mutations in the DNA encoding proteins will not exceed the number of samples needed to detect important effects. In these changes, the effects are powerful, but they are so rare that As for you need to increase the number of samples to truly gain compelling insights.