rs2075650, TOMM40

N. diseases: 45
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE The AA genotype of the aging-related single-nucleotide polymorphism (SNP) rs2075650 in TOMM40 has been associated with longevity, while the AG and GG genotypes are associated with an increased risk of Alzheimer's disease. 31318836 2020
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE The SNPs rs2075650 and rs4420638 were linked to the most replications within a single reclassified phenotype or very similar reclassified phenotypes; both were associated with Alzheimer's disease (AD). 29942042 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASCAT Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. 29107063 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Minor variants: rs10524523-L, rs4420638-G, rs2075650-G were significantly overrepresented in AD. 30443289 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. 27023435 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Collectively, our analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations. 27328316 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Similarly, our evidence suggested that allele A of TOMM40 rs2075650 polymorphism was a risk factor for AD (OR=2.87, 95% CI: 2.46-3.34, P value <0.001). 26795201 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Both methods' results showed two identical significant SNPs associated with the A β-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. 26576771 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE We conclude that rs2075650 in TOMM40 gene may increase the risk of Alzheimer disease. 26572157 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASCAT Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. 26993346 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE In single-SNP based tests, AD risk allele of APOE (rs2075650) was associated with smaller HV (p = 0.0054) and CD33 (rs3865444) with smaller intracranial volume (p = 0.0058). 25670335 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASCAT Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive impairment (n = 524) revealed a significant association of rs6656401 and rs3818361 (CR1), rs2075650 (TOMM40), rs7561528 (BIN1), and rs3865444 (CD33) with late-onset AD that were robust to adjustment with age and apolipoprotein E ε4 genotype. 24176626 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASDB ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASCAT ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASDB Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Three SNPs [rs429358 in APOE: odds ratio (OR)=4.24, 95% confidence interval (CI)=3.01-5.96, P=1.23×10; rs2075650 in APOE: OR=3.57, 95% CI=2.51-5.06, P=1.23×10; and rs677909 in PICALM: OR=0.63, 95% CI=0.49-0.81, P=0.00036, log additive model] were significantly associated with AD susceptibility after correction for multiple testing. 22975751 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035). 24530172 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Only TOMM40 rs2075650 showed association with clinical AD after adjusting for APOE-ε4 (p = 0.007), but not after multiple test correction (p>0.05). 23573206 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Recently, the rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene was identified as a risk factor for AMD and Alzheimer disease. 24146538 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease. 22832961 2012