SnapShot: Genetics of Alzheimer’s Disease

Gene offi cial symbol Gene name Location Possible pathways / pathological biological processes MenDeLIAn Genes APP Amyloid β (A4) precursor protein 21q21.3 Damage response?/Amyloid cascade PSEN1 Presenilin 1 14q24.3 Regulation of APP processing (amyloid cascade); cleavage of APP, the Notch receptor, and other transmembrane proteins PSEN2 Presenilin 2 1q31-q42 Regulation of APP processing (amyloid cascade); cleavage of APP, the Notch receptor, and other transmembrane proteins RIsK Genes APOE Apolipoprotein E 19q13.2 Cholesterol/lipid metabolism TREM2 Triggering receptor expressed on myeloid cells 2 6p21.1 Immune response; chronic infl ammation

[1]  R. Rosenfeld Nature , 2009, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.