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. 2024 May 7;15:136. doi: 10.1186/s13287-024-03737-w

Table 1.

This table divides AD into two common types (EOAD and LOAD) and lists their common risk genes and mutation ways respectively

AD type Gene Mutation type Mechanism Supplement
EOAD/fAD [163] APP Val717Ile/London mutation increase in Aβ42/Aβ40 ratio and total Tau autosomal-dominant
PSEN1 missense mutations, small insertions, deletions, and genomic deletions interfere with the fusion of the γ-secretase complex PSEN2 carriers may onset later than PSEN1 carriers on an average level Complete penetrance
PSEN2 Missense mutations incomplete penetrance
LOAD APOE [179] Over 44 risk loci See below for details
TREM2 [225] R47H mutation See below for details
CD33 [187] rs3865444 and rs12459419 risk variant inhibit of cellular activity and of functions N/A
INPP5D [168] missense Mutations Increase plaque-associated microglia N/A
SORL1 [173] Point mutation Alter APP trafficking at the cell surface Parkinsonian disease (PD) features