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Abstract
ABCA7 is part of the ABCA superfamily of cholesterol and phospholipid transporters that move lipids and other molecules across membranes. The ABCA7 locus was one of four loci implicated in Alzheimer’s disease (AD) susceptibility in a recent genome-wide association study. It is also one of three loci involved in both lipid homeostasis and increased risk for AD. The link between AD and altered brain lipid metabolism is reviewed here, with particular emphasis on the roles of ApoE, ApoJ and ABCA7. Advances in genome-wide studies have allowed researchers to explore the relationships between common sequence variations and disease predisposition. Investigating a link between the biological function of genetic variants and underlying disease pathology may be key to understanding AD cause, progression and treatment.