Abstract
ATP-binding cassette A7 (ABCA7) gene has recently been identified as a strong genetic locus associated with late-onset Alzheimer's disease (LOAD) through genome-wide association studies (GWASs). ABCA7 is a member of the ATP-binding cassette (ABC) transporter gene superfamily, which codes for 49 ABC proteins, divided into 7 subfamilies (coded A-G). As a multispan transmembrane protein, ABCA7 is most abundantly expressed in the microglial cells in the brain. The levels of ABCA7 have been detected to be increased in the Alzheimer's disease (AD) brain, which positively correlated with amyloid plaque burden and disease severity. Emerging data suggests that ABCA7 could be associated with AD via various pathways, possibly including amyloid-β (Aβ) accumulation, lipid metabolism, and phagocytosis. In this review, we summarize the known functions of ABCA7 and discuss the single-nucleotide polymorphisms (SNPs) related to LOAD, as well as their potential physiological effects. Finally, given the contributions of ABCA7 to AD pathogenesis, targeting ABCA7 might provide novel opportunities for AD therapy.
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