Polygenic risk score analysis of pathologically confirmed Alzheimer disease |
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| Authors: | Valentina Escott‐Price PhD Amanda J. Myers PhD Matt Huentelman PhD John Hardy PhD |
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| Affiliation: | 1. Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom;2. Department of Psychiatry and Behavioral Sciences, Programs in Neuroscience and Human Genetics and Genomics and Center on Aging, Miller School of Medicine, University of Miami, Miami, FL;3. Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ;4. Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, London, United Kingdom |
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| Abstract: | Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer disease have given area under the curve (AUC) estimates of <80%. However, these have been based on the genetic analysis of clinical case–control series. Here, we apply the same analytic approaches to a pathological case–control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. Ann Neurol 2017;82:311–314. |
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