Scientists piecing together genetic puzzle in type 1 diabetes

Scientists have hunted down genetic markers implicated in type 1 diabetes, adding to a body of genetic evidence about the metabolic disorder that could explain disease risk and expose pathways for new treatments. The genes were discovered through what is being heralded as the "largest-ever" study of genetic data on the disorder, in which the immune system goes haywire and attacks insulin-producing cells.

While follow-up studies are needed to validate the findings, researchers from The Children's Hospital of Philadelphia and McGill University believe they have found three SNPs associated with gene mutations in patients with the metabolic disorder. To make the discoveries, the group analyzed six separate datasets on type 1 diabetes with information on some 10,000 patients with the disease and another 17,000 people without it.

"Our study found SNPs that we had not expected to have any connection to type 1 diabetes," said Dr. Hakon Hakonarson, the study leader and director of the Center for Applied Genomics at the children's hospital, in a release. "The strongest association among the three SNPs was in the region of the LMO7 gene on chromosome 13. We previously associated another member of the LMO gene family with the childhood cancer neuroblastoma. This gene family plays an important role in protein-protein interactions, but it would not have occurred to anyone that it may be active in type 1 diabetes. GWAS continues to turn up surprising biological associations."

The group, whose findings were published last week in PLoS Genetics, says that there are more than 200 million patients worldwide with type 1 diabetes. Their discoveries don't shed light on new treatments for the chronic disease, yet the researchers think that adding to the knowledge base about the biology of the disease could eventually lead to the development of drugs to fight the illness.

- here's the release
- and the PLoS Genetics article

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