Researchers Gain Ground in Determining Genetic Risk for Disease
By Denise Mann
WebMD Health News
Reviewed By Laura J. Martin, MD
Sept. 29, 2011 -- Researchers have identified a new set of genes that may increase risk for type 1 diabetes.
Type 1 diabetes is the form of the disease that occurs when the body produces little to no insulin, which is the hormone that helps the body keep blood sugar (glucose) levels in check. As a result, glucose builds up in the bloodstream. This leads to the symptoms of type 1 diabetes. People with type 1 diabetes must take insulin every day.
Researchers from the Children's Hospital of Philadelphia tapped into six large databases encompassing 10,000 people with type 1 diabetes and 17,000 people without diabetes for comparison.
The databases contained information on single-nucleotide polymorphism or SNPs, which are changes in a DNA sequence. SNPs are not disease-causing genetic mutations. Instead, they serve as signposts that alert scientists to particular gene regions associated with a disease.
Genes and Type 1 Diabetes
The researchers located three new SNPs and confirmed the existence and location of other SNPs. The three new SNPs add to 50 that had been identified previously and are thought to be linked to type 1 diabetes.
The SNP with the greatest significance in the new study was found in the region of the LMO7 gene on chromosome 13.
The exact nature of the relationship is not yet fully understood, but the LMO7 gene is seen in the pancreas' islet cells. The islet cells produce insulin.
"We're much further along in finding the full genetic architecture in type 1 diabetes than in any other complex disorder," researcher Struan F. A. Grant, PhD, says in a news release. Grant is the associate director of the Center for Applied Genomics at Children's Hospital in Philadelphia. "But there's clearly much work ahead in translating knowledge to clinical use."
The findings appear online in Public Library of Science Genetics.
Bradfield, J. PloS Genetics, 2011.
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