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Jeff Rowe


EHRs can help healthcare providers understand, treat and, ultimately, prevent disease.

That’s according to a new article published in the journal Science Translational Medicine by researchers at Vanderbilt University Medical Center (VUMC) and the University of Arizona College of Pharmacy.

According to an article in the VUMC Reporter, the researchers created what they label as the first comprehensive catalog of diseases associated with variations in human leukocyte antigen, or HLA – genes that regulate the body's immune system. The catalog could help identify individuals who are at-risk for certain autoimmune diseases or who may generate antibodies that attack their own tissues in response to an infection.

"In one fell swoop we essentially replicated decades of research on autoimmune associations with the HLA," said Jason Karnes, co-author of the paper with Lisa Bastarache, lead data scientist in the Vanderbilt Center for Precision Medicine. Karnes is an assistant professor in the University of Arizona College of Pharmacy in Tucson. "To my knowledge no other investigations have made this level of data available" to the wider research community, Karnes said.

To date, more than 230,000 samples from different individuals have been stored in BioVU, Vanderbilt's DNA database. Genetic samples are linked to the corresponding EHRs in which identifying information has been deleted to protect patient privacy.

From the genetic code, the researchers inferred which HLAs would be expected to be expressed in nearly 29,000 individuals whose DNA samples were stored in BioVU and another 8,400 samples provided by Scott Hebbring and colleagues from the Marshfield Clinic.

The EHRs from these individuals were screened for the presence of nearly 1,400 different phenotypes that could be linked to the HLA genes, which are proteins expressed on the surfaces of cells. Like nametags, they enable the immune system to distinguish "self" tissues of the body from "non-self," such as invading pathogens.