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Editor's e-Note
Because diabetic neuropathy varies greatly in its onset, affecting some patients and not others, researchers at the Joslin Diabetes Center used a genomewide association study of 5,168 patients to determine whether there are genetic factors that either protect patients from developing the condition or predispose them. Their findings may form the basis for the formulation of a pharmaceutical approach to prevention.

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— Kate Jackson, editor
e-News Exclusive
Genetic Marker Linked to Increased Risk of Diabetic Peripheral Neuropathy

Researchers from Joslin Diabetes Center, using a genomewide association study (GWAS), have identified a genetic factor linked to the development of diabetic peripheral neuropathy. This finding suggests a new target for preventive therapies. The research has been published online and will appear in the August print issue of Diabetes.

While neuropathy—which causes pain or numbness in the legs and an increased risk of foot ulcers—is a major problem for many people with diabetes, there is significant variability in its onset: Some people develop this complication, and others do not, says Alessandro Doria, MD, PhD, MPH, a study senior author and director of the molecular phenotyping and genotyping at Joslin Diabetes Center and a professor of medicine at Harvard Medical School in Boston. “Therefore, we wanted to see if we could discover genetic factors that predispose people with diabetes to developing this complication vs being protected from it.”

For this study, researchers used a GWAS approach. This analysis is used to find disease-associated variants throughout the genome. A GWAS for diabetic peripheral neuropathy was carried out in 5,168 participants from the Action to Control Cardiovascular Risk in Diabetes clinical trial—4,384 with evidence of peripheral neuropathy and 784 without.

After screening millions of small variations of the genome sequence (genetic variants), the study identified a region on chromosome 2q24 as having a powerful impact on the risk of peripheral neuropathy in type 2 diabetes. While the precise mechanisms are not known, there were some hints that the genetic variants in this region may act by affecting a nearby sodium channel regulating the transmission of sensory signals in peripheral nerves.

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