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Genomics In The Journals: Mar 3, 2011

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – In the Journal of Experimental Medicine, a Spanish research team reported that variants in the tumor suppressor-coding gene TP53 coincide with the degree of disability — such as speech, vision, and movement problems — after a stroke. By prospectively genotyping TP53 in nearly 700 individuals who had suffered an ischemic or hemorrhagic stroke, the team found a particular TP53 polymorphism linked to more severe stroke complications. Given Tp53's role in apoptosis, coupled with their brain imaging and cell culture experiments, the researchers argue that those carrying the risk variant may be more susceptible to stroke-related neuronal cell death.


Italian researchers reported in the Journal of the American Medical Association that type 2 diabetes risk is associated with variations in a gene that regulates the expression of an insulin receptor. In a case-control study involving thousands of individuals with or without type 2 diabetes mellitus from Italy, the US, and France, the group found a variant in the "high-mobility group A1" (HMGA1) gene that coincided with type 2 diabetes risk in individuals of European descent, turning up in around seven to eight percent of those with diabetes.

"It is anticipated that the discoveries of novel loci such as HMGA1 will soon be translated into therapeutic decision making, and thereby improve the health of patients with type 2 [diabetes mellitus]," University of Texas Southwestern Medical Center nutrition and metabolic disease researcher Abhimanyu Garg wrote in an accompanying NEJM editorial.

Still, Garg cautioned against accepting all of the new study's conclusions without further research and validation. Among the concerns he cited: small control population sizes as well as dramatic variation in the prevalence of the potential risk variant within the three control populations tested. For instance, he noted, the variant turned up in 4.7 percent of control individuals in the US, compared to just 0.43 percent of Italian controls.


The New England Journal of Medicine published a retraction letter related to a 2006 study by Anil Potti and colleagues that described gene expression patterns said to predict early stage non-small cell lung cancer recurrence. The retraction followed failed efforts to replicate the study's findings.

"Using a sample set from a study by the American College of Surgeons Oncology Group (ACOSOG) and a collection of samples from a study by the Cancer and Leukemia Group B (CALGB), we have tried and failed to reproduce results supporting the validation of the lung metagene model described in the article," Potti and co-authors wrote. "We deeply regret the effect of this action on the work of other investigators."


Genomics In The Journals is a new weekly feature pointing readers to select, recently published articles involving genomics and related research.