A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.

ABSTRACT: Established genetic risk factors for Alzheimer's disease (AD) account for only a portion of AD heritability. The aim of this study was to identify novel associations between genetic variants and AD-specific brain atrophy. We conducted genome-wide association studies for brain magnetic resonance imaging measures of hippocampal volume and entorhinal cortical thickness in 2643 Koreans meeting the clinical criteria for AD (n = 209), mild cognitive impairment (n = 1449) or normal cognition (n = 985). A missense variant, rs77359862 (R274W), in the SHANK-associated RH Domain Interactor (SHARPIN) gene was associated with entorhinal cortical thickness (p = 5.0 × 10^-9) and hippocampal volume (p = 5.1 × 10^-12). It revealed an increased risk of developing AD in the mediation anal

SUBMITTER: Park JY 

PROVIDER: S-EPMC8595886 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature