. Author manuscript; available in PMC: 2011 Mar 16.

Published in final edited form as: J Alzheimers Dis. 2010;20(Suppl 2):S499–S512. doi: 10.3233/JAD-2010-100504

Table 1.

Genes and risk factors involved in Alzheimer’s disease pathogenesis

Chromosome	Gene	Phenotype/Pathology	Ref.
*Genes in Familial AD*
21	Amyloid-β protein precursor	Mutations in AβPP are causal factors of FAD and are involved in the increased production of all Aβ	[7]
14	Presenilin 1	Mutations in PS1 are causal factors of FAD and are involved in gamma secretase activity and in the increased production of Aβ₁-₄₂	[8]
1	Presenilin 2	Mutations in PS2 are causal factors of FAD and are involved in gamma secretase activity and in the increased production of Aβ₁-₄₂	[9]
*Genes Involved in AD as a Risk Factor*
19	Apolipoprotein E allele 4	E4 polymorphism is a risk factor for late-onset AD and is involved in the increased production of Aβ	[10]
11	Sortilin related receptor	Involved in increased production of Aβ	[11]
8	Clusterin	Clusterin is expressed abundantly in the brain and involved in clearing of Aβ from brain to plasma. However, it is also reenter to the brain, and involved in decreased clearance of Aβ	[12,13]
1	Complement component receptor 1	Involved in clearance of Aβ. However, variants in complement component receptor 1 interfere with Aβ clearance	[12,13]