Journal article

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems

Yihan Li, Simon M Laws, Luke A Miles, James S Wiley, Xin Huang, Colin L Masters, Ben J Gu

CELLULAR AND MOLECULAR LIFE SCIENCES | SPRINGER BASEL AG | Published : 2021

Abstract

Alzheimer's disease (AD) is a chronic neurodegenerative disease characterised by cognitive impairment, behavioural alteration, and functional decline. Over 130 AD-associated susceptibility loci have been identified by genome-wide association studies (GWAS), while whole genome sequencing (WGS) and whole exome sequencing (WES) studies have identified AD-associated rare variants. These variants are enriched in APOE, TREM2, CR1, CD33, CLU, BIN1, CD2AP, PILRA, SCIMP, PICALM, SORL1, SPI1, RIN3, and more genes. Given that aging is the single largest risk factor for late-onset AD (LOAD), the accumulation of somatic mutations in the brain and blood of AD patients have also been explored. Collectively..

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