Disorder "Alzheimer's Disease"
Found 124 records
Disorder information
Disorder name:
Alzheimer's Disease
Disoder ID:
Synonyms:
Alzheimer disease, Alzheimers dementia
Definition:
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Modifier statisitcs
Record:
124
Gene:
64
Variant:
115
Reference:
37
Effect type:
Expressivity(97)
,Penetrance(27)
Modifier effect:
Altered onset time(62)
,Altered incidence(27)
,Risk factor(25)
,Risk factor and Altered onset time(3)
,Altered gene activity(2)
,Altered cognitive performances(1)
,Altered intraocular pressure(1)
,Altered optic nerve damage(1)
,Altered severity(1)
,Altered severity and onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TNF | TNF:c.-308G>A | Expressivity | Risk factor | Assessment of genotype–phenotype associations | TNF-alpha G308A polymorphism may be associated with the increased risk of AD in Chinese and decreased risk of AD in northern European populations.more | more |
| TNF | Expressivity | Altered onset time | P<0.05 | There was a significant lowering of age of onset for affecteds with E4/E4 genotype as compared to one E2 allele (P=0.02) or all others (P=0.03).more | more | |
| TNF | Expressivity | Risk factor | Two E4 alleles (OR=5.6; 95% CI: 1.5-21.0) or one E4 allele (OR=2.5; 95% CI: 1.3-5.0) | TNF appears to have some modifying effect in ADmore | more | |
| TLR4 | TLR4:D299G | Expressivity | Risk factor | From review article | Genetic polymorphisms in the promoter region can contribute to draw a risk phenotype of AD.more | more |
| SUMO2 | SUMO2:c.153+1858A>G | Expressivity | Risk factor | Adjusted OR=2.879, 95% CI: 1.399-5.924, p-value=0.004; | The GA genotype of rs35271045 of SUMO2 were significantly associated with an increased risk of AD in female groupmore | more |
| SUMO2:c.226-2216T>C | Expressivity | Risk factor | Adjusted OR=2.460, 95% CI: 1.197-5.057, p-value=0.014 | The TC genotype of rs9913676 of SUMO2 were significantly associated with an increased risk of AD in female groupmore | more | |
| SUMO1 | SUMO1:c.13-1864C>T | Expressivity | Risk factor | Adjusted OR=8.737, 95% CI: 2.041-37.41, p-value=0.003 | We found that rs12472035 polymorphism of SUMO1 was significantly associated with an increased risk of AD in male groupmore | more |
| SORL1 | SORL1:rs762176154 | Expressivity | Altered gene activity | Gene activity study | Impaired SORL1 protein function, and possibly impaired TSHZ3 function, further disturbed Aβ processingmore | more |
| SNX8 | SNX8:c.94+7848G>A | Expressivity | Altered onset time | P=0.04795 | Genetic variation in these new candidate genes affects the risk of late-onset Alzheimer’s disease.more | more |
| RGS11 | RGS11:c.1280T>C(p.Met427Thr) | Expressivity | Altered onset time | P(FDR)=3.48×10(-2) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |