Table 2.
Common and rare variants associated with Alzheimer’s disease
| Gene | Chromosome | SNP | Function | Pathway | References |
|---|---|---|---|---|---|
| APOE | 19q13.2 | Lipid transport Synaptic vesicle endocytosis Cytoskeletal dynamics |
Lipid metabolism | 41–44 | |
| CLU | 8p21-p12 | rs11136000 | Synapse turnover Complement regulation Chaperone protein |
Cholesterol metabolism and immune response | 37,66,67 |
| ABCA7 | 9p13.3 | rs3764650 rs3752246 |
Phagocytosis Lipid homeostasis |
Lipid metabolism Immune response |
72,74,78 |
| SORL1 | 11q23.2-q24.2 | rs12285364 | Endocytosis Receptor for APOE Processing of APP |
Endocytosis Lipid metabolism |
79,81,88 |
| CR1 | 1q32 | rs3818361 rs6656401 |
Amyloid β clearance Complement activation |
Immune response | 91,92,94 |
| CD33 | 19q13.3 | rs3865444 rs3826656 |
Clathrin-mediated endocytosis Cell signaling |
Immune response | 97,101 |
| MS4A | 11q12.2 | rs610932 rs670139 rs4938933 |
Signal transduction Immune function |
Immune response | 102,103 |
| TREM2 | 6p21.1 | rs75932628 | Inflammatory response | Immune response | 104,107,110 |
| BIN1 | 2q14.3 | rs744373 rs7561528 |
Synaptic vesicle endocytosis APP trafficking Cytoskeletal dynamics |
Synaptic vesicle endocytosis | 114,118 |
| CD2AP | 6p12 | rs9296559 rs9349407 |
Receptor-mediated endocytosis Cytokinesis Cytoskeletal dynamics |
Endocytosis Synapse function |
119,120,122 |
| PICALM | 11q14 | rs3851179 rs541458 |
Clathrin-mediated endocytosis | Endocytosis Synapse function |
114,123,125 |
| EPHA1 | 7q34 | rs11771145 rs11767557 |
Synaptic development Immune function Neural development |
Immune response | 38,132,133 |
| HLA-DRB5/HLA-DRB1 | 6p21.3 | rs9271192 | Immune function Histocompatibility |
Immune response | 38,135,137 |
| INPP5D | 2q37.1 | rs35349669 | Cytokine signaling Immune function |
Immune response | 38,138 |
| MEF2C | 5q14.3 | rs190982 | Myogenesis Synapse formation |
Immune response Hippocampal synaptic function |
140,141 |
| CASS4 | 20q13.31 | rs7274581 rs6024870 rs16979934 |
Cell migration Cell adhesion |
Cytoskeletal function and axonal transport | 134,142,144 |
| PTK2B | 8p21.1 | rs28834970 | Calcium homeostasis MAP kinase signaling |
Hippocampal synaptic function | 146,147 |
| NME8 | 7p14.1 | rs2718058 | Ciliary function Neuronal cell proliferation |
Axonal transport and cytoskeletal function | 149,150 |
| ZCWPW1 | 7q22.1 | rs1476679 | Epigenetic regulation Neural development |
Epigenetic regulation | 153,154 |
| CELF1 | 11p11 | rs10838725 | mRNA editing Pre-mRNA splicing |
Cytoskeletal function and axonal transport | 144,155 |
| FERMT2 | 14q22.1 | rs17125944 | Cell–cell adhesion Angiogenesis |
Tau pathology Angiogenesis |
134,160 |
| SLC24A4/RIN3 | 14q32.12 | rs10498633 | Cell signaling Neural development |
Synapse function endocytosis | 166,169 |
| DSG2 | 18q12.1 | rs8093731 | Cell–cell adhesion | 38,172,173 | |
| PLD3 | 19q13.2 | rs145999145 | Signal transduction Epigenetic modification |
Lipid metabolism | 174,175 |
| UNC5C | 4q22.3 | rs137875858 | Neural development | 177 | |
| AKAP9 | 7q21-q22 | rs144662445 rs149979685 |
Signal transduction | 183,184 | |
| ADAM10 | 15q22 | rs2305421 | Hippocampal neurogenesis Cell adhesion |
186,187 |
Abbreviation: SNP, single-nucleotide polymorphism.