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
OR: Odds ratio obtained from the meta-analysis of all available studies (b). SA: susceptibility alleles.