Researchers from Nashville, Tenn.-based Vanderbilt University Medical Center and Tucson-based University of Arizona College of Pharmacy created a catalogue of diseases associated with human leukocyte antigen variations.
The study, published May 10 in Science Translational Medicine, uses DNA databases from VUMC and Marshfield (Wis.) Clinic Personalized Medicine Research Project. The researchers focused on variation in HLAs — a type of protein that regulates the immune system — which have been linked to autoimmune diseases like Type 1 diabetes and rheumatoid arthritis.
The researchers scanned patients' health characteristics from EHRs and studied them alongside their HLA gene variations. They determined Type 1 diabetes had the strongest link to HLA variation, but also found new associations between HLAs and multiple sclerosis and cervical cancer.
The researchers published their disease catalogue online in the hopes that integrating this analysis into EHRs will help providers determine when to take preventative action for these diseases.
"To my knowledge, no other investigations have made this level of data available," said Jason Karnes, PhD, PharmD, who co-led the study.