Major breakthrough in the Genetics of Diabetes

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Incidence of Type 1 diabetes has been increasing worldwide, particularly in children under the age of 5 years. In general, Type 1 diabetes comprises around 5-10% of the total diabetes prevalence. The incidence of childhood type 1 diabetes mellitus in Singapore is relatively low compared to developed countries at 2.46 per 100,000 children aged 1-12 years. Yet, it remains the predominant form of diabetes affecting children in Singapore.

Some 3 million people in the United States have the disease, according to the JDRF, a group that funds Type 1 diabetes research and education. Type 1 diabetes patients cannot produce insulin to take care of the body’s glucose levels, as the insulin producing cells in pancreas are killed by body’s immune system.

Researchers from University of Florida Genetics Institute have identified variations—known as single nucleotide polymorphisms (SNPs) in the genome of Type 1 diabetes patients. In this study, 50 susceptible regions on the genome and pathways contributing to risk in patients with Type 1 diabetes were identified. The study involved a population of 27,000 individuals with or without Type 1 diabetes. Starting with 200,000 possible locations, researchers pinpointed the disease causing genomic variations to less than 5 at certain locations by a technique known as fine mapping.

“It’s a game-changer for Type 1 diabetes,” said Patrick Concannon, director of the University of Florida Genetics Institute. According to Concannon, this study would help researchers in diabetes to work more effectively and efficiently by giving a direction as to, where to look for the genetic variations that cause Type 1 diabetes and perhaps other diseases like arthritis. “We’ve taken this genetic data which was interesting but hard to work with, and we’ve condensed it down into something that people can actually use to begin to explore the mechanism of the disease. It moves it out of the realm of genetics to being broadly applicable to Type 1 diabetes research,” he said.

“The researchers’ findings are the most comprehensive yet in the effort to locate and identify the genetic risk variants for Type 1 diabetes and other autoimmune diseases,” said Todd Brusko, a member of the UF Diabetes Institute and an assistant professor in the UF College of Medicine’s department of pathology, immunology and laboratory medicine, part of UF Health. This will help other researchers to focus on finding, how these genetic variations would lead to type 1 diabetes instead of trying to determine which genes heighten the risk.

“Ultimately, this information will allow researchers and clinicians to tailor treatments to correct underlying defects in the immune system that allow for autoimmune disease development,” Brusko said.

“The findings are significant because certain interactions within the genome can now be analyzed to identify which genes and regulatory sequences cause the disease,” said Stephen S. Rich, the study’s lead author and the director of the Center for Public Health Genomics at the University of Virginia.

Defining the variants that cause Type 1 diabetes may lead to new therapeutic targets and treatments, he said.

Original article can be accessed here.