Table 2: Genes in which Determining Mutations and Susceptibility Polymorphisms (Associated to a Higher or Lower Risk) Related to AD have been Found

Gene Protein Chromosome Known FAD Pathogenic Mutations*
PSEN2 presenilin 2 1 14
PSEN1 presenilin 1 14 173
APP βA precursor protein 21 30
SA** ORa ORb
APOE apolipoprotein E 19 ε4 vs ε3 3.68 3.81
CHRNB2 β2 subunit of the neuronal nicotinic receptor 1 T vs G 0.67 0.69
GAB2 GRB2 associated binding protein 2 11 T vs G 0.84 0.81
CH25H cholesterol 25‑hydroxylase 10 T vs C 1.44 1.38
SORL1 Sortilin-related receptor 11 G vs C 0.9 0.7
CALHM1 calcium homeostasis modulator 1 10 T vs C 1.42 1.42
CST3 cystatin C 20 C vs G 1.23 1.28
ACE angiotensin I converting enzyme 1 17 C vs T 0.83 0.79
PGBD1 piggyBac transposable element derived 1 6 A vs G 1.25 1.25
MAPT/STH microtubule-associated protein τ/saitohin 17 T vs C 1.24 1.24

* :Taken from http://www.molgen.ua.ac.be/ADMutations/ in November 2008.
** :Among the numerous genes in which susceptibility polymorphisms to develop sporadic AD have been found, we have pointed out those 10 genes which, up to now, have shown a greater degree of association (taken from http://www.alzforum.org/res/com/gen/alzgene/ in November 2008).
FAD: familial Alzheimer's disease.
a OR: Odds ratio obtained from the meta analysis of all available studies (a) and studies on Caucasians (b). SA: susceptibility alleles.
b OR: Odds ratio obtained from the meta analysis of all available studies (a) and studies on Caucasians (b). SA: susceptibility alleles.