From: Capturing Alzheimer's disease genomes with induced pluripotent stem cells: prospects and challenges
Gene | AD type | Product | Function or pathway | ID method | Reference(s) |
---|---|---|---|---|---|
APP | Familial | Amyloid precursor protein | Cell surface receptor, vesicle trafficking, cell signaling | Pedigree | |
PSEN1 | Familial | Presenilin 1 | Proteolytic subunit of γ-secretase | Pedigree | [10] |
PSEN2 | Familial | Presenilin 2 | Proteolytic subunit of γ-secretase | Pedigree | |
APOE | Sporadic | Apolipoprotein E | Apoprotein, catabolism of triglyceride-rich lipoprotein constituents, endocytosis | Candidate, GWAS | |
CLU | Sporadic | Clusterin (Apolipoprotein J) | Secreted chaperone | Candidate, GWAS | |
PICALM | Sporadic | Phosphatidylinositol-binding clathrin assembly protein | Clathrin assembly, endocytosis | GWAS | [21] |
EXOC3L2 | Sporadic | Exocyst complex component 3-like 2 | Unclear | GWAS | [23] |
BIN1 | Sporadic | Bridging integrator 1 (amphiphysin II) | Nucleocytoplasmic adaptor protein, possible role in synaptic vesicle endocytosis | GWAS | [23] |
CR1 | Sporadic | Complement receptor 1 | Complement cascade regulation | GWAS | [22] |
SORL1 | Sporadic | Sortilin-related receptor | Low density lipoprotein receptor family member, possible role in endocytosis and sorting | Candidate | [85] |
GWA_14q32.13 | Sporadic | Unknown | Unclear | GWAS | [86] |
TNK1 | Sporadic | Tyrosine kinase, non-receptor 1 | Nonreceptor tyrosine kinase | GWAS | [86] |
IL8 | Sporadic | Interleukin 9 | CXC chemokine family member, mediation of inflammatory response | Candidate | [87] |