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JAMA Study | Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype

Alzheimer’s Disease Potential Risk Variants Identified in Study of APOE4 Carriers, Noncarriers

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“Bioinformatics and functional studies of the GPAA1 rs138412600 variant, which was the most robust novel association signal, demonstrated that it may also be associated with global cognition function and expression in [the] brain of GPAAA1 and its repressive transcription factor, FOXG1,” the authors reported.

June 10, 2019

JAMA Neurol. Published online June 10, 2019. doi:10.1001/jamaneurol.2019.1456

Key Points

Question  Are there rare variants associated with Alzheimer disease among individuals who possess or lack the APOE ε4 allele?

Findings  This case-control, whole-exome sequencing study of 10 441 individuals identified a possibly novel association with a GPAA1 variant among those who lacked the APOE ε4 allele, a finding that was replicated in independent data sets and supported by analyses of whole-genome and RNA sequencing data derived from human brain tissue. Novel associations were identified among individuals with the APOE ε4 allele for variants in ISYNA1, OR8G5, IGHV3-7, and SLC24A3.

Meaning  This study supports the apparent involvement of genes in Alzheimer disease whose effects are dependent on APOE genotype.

READ FULL ABSTRACT AND PAPER …

SOURCE: https://jamanetwork.com/journals/jamaneurology/article-abstract/2735123

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