Review Article

Bridging the Gap between Statistical and Biological Epistasis in Alzheimer’s Disease

Table 1

Known Alzheimer’s disease associated genes/variants.

VariantGeneAbbreviationRisk/protective

rs744373Bridging integrator 1BIN1Risk
rs11136000ClusterinCLUProtective
rs3764650ATP-binding cassette, subfamily A (ABC1), member 7ABCA7Risk
rs3818361Complement component (3b/4b) receptor 1CR1Risk
rs3851179Phosphatidylinositol binding clathrin assembly proteinPICALMProtective
rs610932Membrane-spanning 4-domain, subfamily A, member 6AMS4A6AProtective
rs3865444CD33 moleculeCD33Protective
rs670139Membrane-spanning 4-domain, subfamily A, member 4EMS4A4ERisk
rs9349407CD2-associated proteinCD2APRisk
rs9271192Major histocompatibility complex, class II, DR beta 5HLA-DRB5Risk
Major histocompatibility complex, class II, DR beta 1HLA-DRB1
rs28834970Protein tyrosine kinase 2 betaPTK2BRisk
rs11218343Sortilin-related receptor, L(DLR class) A repeats containingSORL1Protective
rs10498633Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4SLC24A4Protective
Ras and Rab interactor 3RIN3
rs8093731Desmoglein 2DSG2Protective
rs35349669Inositol polyphosphate-5-phosphatase, 145 kDaINPP5DRisk
rs190982Myocyte enhancer factor 2CMEF2CProtective
rs2718058NME/NM23 family member 8NME8Protective
rs1476679Zinc finger, CW type with PWWP domain 1ZCWPW1Protective
rs10838725CUGBP, Elav-like family member 1CELF1Risk
rs17125944Fermitin family member 2FERMT2Risk
rs7274581Cas scaffolding protein family member 4CASS4Protective

These SNPs are located close to two different genes so both are listed here (as named in the primary publication reporting the association).