An international team of scientists, led by researchers at University of California San Diego School of Medicine and University of California San Francisco (UCSF), has developed a novel genetic score that allows individuals to calculate their age-specific risk of developing Alzheimer's disease (AD), based upon genetic information. A description of the polygenic hazard scoring (PHS) system and its validation was published on March 21, 2017 in PLOS Medicine. The open-access article is titled “Genetic Assessment of Age-Associated Alzheimer Disease Risk: Development and Validation of a Polygenic Hazard Score.” "We combined genetic data from large, independent cohorts of patients with AD with epidemiological estimates to create the scoring, then replicated our findings on an independent sample and validated them with known biomarkers of Alzheimer's pathology," said co-first author Rahul S. Desikan, M.D., Ph.D., Clinical Instructor in the UCSF Department of Radiology & Biomedical Imaging. Specifically, the researchers combined genotype-derived polygenic information with known AD incidence rates from the U.S. population to derive instantaneous risk estimates for developing AD. "For any given individual, for a given age and genetic information, we can calculate your 'personalized' annualized risk for developing AD," said Dr. Desikan. "That is, if you don't already have dementia, what is your yearly risk for AD onset, based on your age and genetic information.
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