Table 2.
Genes reliably implicated in risk for late-onset Alzheimer's disease, including chromosomal location and function.
| Gene name (symbol) | Chromosomal location | Function of encoded protein |
|---|---|---|
| Apolipoprotein E (APOE) | 19q13.2 | Transportation of lipoproteins, fat-soluble vitamins, and cholesterol |
| Clusterin (CLU) | 8p21 | Chaperone protein |
| Complement receptor 1 (CR1) | 1q32 | Receptor for C3b and C4b complement cleavage fragments, the main system for clearance of complement opsonized immune complexes |
| Phosphatidylinositol binding clathrin assembly protein (PICALM) | 11q14.2 | Membrane 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) | 2q14.3 | Tumor suppressor |
| ATP binding cassette transporter 7 (ABCA7) | 19p13.3 | The expression pattern suggests a role for lipid homeostasis and differentiation of immune cells. |
| Membrane-spanning 4-domains, subfamily A (MS4A) | 11q12.2 | Possibly involved in signal transduction or immunological functions |
| Ephrin type-A receptor 1 (EPHA1) | 7q34 | Member of the EPH receptor-tyrosine kinase family, implicated in mediating developmental events of the nervous system |
| CD33 antigen (CD33) | 19q13.3 | Adhesion molecule of myelomonocytic-derived cells |
| CD2 associated protein (CD2AP) | 6p12.3 | A scaffolding molecule that regulates the actin cytoskeleton and vesicle formation |
| Sortilin-related receptor 1 (SORL1) | 11q24.1 | Receptor for ApoE, assists with intracellular trafficking and processing of APP |