Two research teams have found variants in a gene that may predispose people to the most common form of diabetes, work that could lead to better understanding of the disease.Variations were found in a gene on chromosome 20 that helps control function of liver and pancreas cells, according to Dr. Francis Collins, director of the National Human Genome Research Institute and senior author of one study.
Having the variation doesn’t mean a person will get diabetes, Collins said at a briefing yesterday. “It’s a predisposition,” he said. “It’s a risk factor.” Those with the variation appear to have about a 30 percent higher risk of developing type 2 diabetes, Collins said.
Formerly called adult-onset diabetes, type 2 affects about 17 million people in the United States and accounts for up to 95 percent of diabetes cases nationally.
There probably will prove to be a dozen genes that play a role in type 2 diabetes, Collins said, as well as environmental factors such as obesity and lack of exercise. Sorting the various risk factors is difficult, he said, but the gene under study on chromosome 20 is intriguing.
“This gene acts as a master regulator of other genes,” Collins said. It regulates 12 percent of liver genes, he said, and 11 percent of genes associated with pancreatic cell clusters called islets. “It directly regulates insulin,” he said.
In type 2 diabetes, the body gradually loses its ability to respond properly to insulin. Glucose builds up in the blood and the body cannot make efficient use of its main source of fuel.
Collins and his colleagues looked at genetic variations in 793 Finnish adults diagnosed with type 2 diabetes and 413 non-diabetic controls. Another team led by Dr. M. Alan Permutt of Washington University in St. Louis looked at 275 Ashkenazi Jewish adults in Israel with type 2 diabetes and 342 controls. Reports on their findings appear in the April issue of the journal Diabetes.
Other researchers are looking to confirm the possible link between the genetic variations and type 2 diabetes. If they do, Collins said, a test might be feasible “to warn people while they’re still young, healthy and not diabetic that they might be at high risk” for the disease. They could help reduce the risk with a healthy lifestyle.
Earl Lane is a staff writer at the Washington Bureau of
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