Contributions of rare and common variation to early-onset and atypical dementia risk

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Abstract

We collected and analyzed genomic sequencing data from individuals with clinician-diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with 68 newly described in this report. Of those 68, 62 patients self-reported white, non-Hispanic ethnicity and 6 reported as African-American, non-Hispanic. Fifty-three percent of patients had a returnable variant. Five patients harbored a pathogenic variant as defined by the American College of Medical Genetics criteria for pathogenicity. A polygenic risk score (PRS) was calculated for Alzheimer's patients in the total cohort and compared to the scores of a late-onset Alzheimer's cohort and a control set. Patients with early-onset Alzheimer's had higher non-APOE PRSs than patients with late-onset Alzheimer's, supporting the conclusion that both rare and common genetic variation associate with early-onset neurodegenerative disease risk.

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Wright, C. A., Taylor, J. W., Cochran, M., Lawlor, J. M. J., Moyers, B. A., Amaral, M. D., … Cochran, J. N. (2023). Contributions of rare and common variation to early-onset and atypical dementia risk. Cold Spring Harbor Molecular Case Studies, 9(3). https://doi.org/10.1101/mcs.a006271

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