Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer ’s Disease Sequencing Project

Conclusions: Pathogenic variants in dementia genes were predominantly rare and conserved coding changes. Pathogenic variants withinARSA,CSF1R, andGRN were observed, and candidate variants inGRN andCHMP2B were nominated in ADSP families. An independent case-control study provided evidence of an association between variants inTREM2,APOE,ARSA,CSF1R,PSEN1, andMAPT and risk of AD. Variants in genes which cause dementing disorders may influence the clinical diagnosis of AD in a small proportion of cases within the ADSP.Dement Geriatr Cogn Disord 2018;45:1 –17
Source: Dementia and Geriatric Cognitive Disorders - Category: Geriatrics Source Type: research