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Analysis of whole-exome sequencing data for Alzheimer disease stratified by APOE genotype

JAMA Neurology Jun 14, 2019

Ma Y, et al. - Using whole-exome sequencing, researchers identified APOE genotype-dependent associations with infrequent and rare variants in this case-control, whole-exome sequencing study involving 10,441 people. Between March 2017 and September 2018, data were analyzed. Novel associations for variants in ISYNA1, OR8G5, IGHV3-7, and SLC24A3 were identified among individuals with the APOE ε4 allele. The research recognized numerous potential novel Alzheimer disease (AD) associations with individual and aggregated rare variations in groups of people with and without APOE ε4 alleles that strengthen recognized and propose extra pathways leading to AD.
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