Review Article

The Genetics of Alzheimer’s Disease

Table 2

Genes reliably implicated in risk for late-onset Alzheimer’s disease, including chromosomal location and function.

Gene name (symbol)Chromosomal locationFunction of encoded protein

Apolipoprotein E (APOE)19q13.2Transportation of lipoproteins, fat-soluble vitamins, and cholesterol
Clusterin (CLU)8p21Chaperone protein
Complement receptor 1 (CR1)1q32Receptor for C3b and C4b complement cleavage fragments, the main system for clearance of complement opsonized immune complexes
Phosphatidylinositol binding clathrin assembly protein (PICALM)11q14.2Membrane retrieval of the synaptic vesicle, intracellular movement of lipids and proteins, and possibly internalization of full length APP from the cell surface
Myc box-dependent-interacting protein 1 (BIN1)2q14.3Tumor suppressor
ATP binding cassette transporter 7 (ABCA7) 19p13.3The expression pattern suggests a role for lipid homeostasis and differentiation of immune cells.
Membrane-spanning 4-domains, subfamily A (MS4A) 11q12.2Possibly involved in signal transduction or immunological functions
Ephrin type-A receptor 1 (EPHA1) 7q34Member of the EPH receptor-tyrosine kinase family, implicated in mediating developmental events of the nervous system
CD33 antigen (CD33) 19q13.3Adhesion molecule of myelomonocytic-derived cells
CD2 associated protein (CD2AP) 6p12.3A scaffolding molecule that regulates the actin cytoskeleton and vesicle formation
Sortilin-related receptor 1 (SORL1) 11q24.1Receptor for ApoE, assists with intracellular trafficking and processing of APP