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NG00111 - Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease


Psychotic symptoms, defined as the occurrence of delusions or hallucinations, are frequent in Alzheimer disease (AD with psychosis, AD + P). AD + P affects ~50% of individuals with AD, identifies a subgroup with poor outcomes, and is associated with a greater degree of cognitive impairment and depressive symptoms, compared to subjects without psychosis (AD − P). Although the estimated heritability of AD + P is 61%, genetic sources of risk are unknown. The goal of the study is to identify genetic sources of psychosis risk in Alzheimer disease.

This study analyzed samples from 12,317 subjects diagnosed with possible, probable, and when available, autopsy-confirmed definite Alzheimer disease (for subject characteristics (see Table1a in PMID34112972). Diagnoses were made based on diagnostic evaluations, cognitive testing, and in some cases neuropathologic assessment, conducted during subjects’ participation in the following eight source programs as previously described: the Fundació ACE Barcelona Alzheimer Treatment and Research Center (ACE/GR@ACE), a Consortium of National Institute on Aging Alzheimer Disease Centers(ADC), Eli Lilly and Company (LILLY), the Norwegian, Exeter and King’s College Consortium for Genetics of Neuropsychiatric Symptoms in Dementia (NEXGENS), the National Institute on Aging’s Late Onset Alzheimer’s Disease Family Study (NIA-LOAD), the National Institute of Mental Health Genetics Initiative AD Cohort (NIMH), the University of Pittsburgh Alzheimer Disease Research Center (PITT ADRC), and the MRC genetic resource for Late-onset AD included in the Genetic and Environmental Risk in AD Consortium (UK-Cardiff).

The p-value data is generally available to all users using the link below; however, gaining access to the complete dataset requires a formal data request.

Summary Statistics p-values only

Molecular Data Type


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