ArticleMolecular genetics & genomic medicine2020
A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Functional and genetic divergence of aging-relatedFrontiers in neuroscience · 2026Pooled it
- Article
- Longitudinal Analysis of Mitochondrial D-Loop Methylation and Copy Number in Peripheral Blood: Epigenetic Signatures of Alzheimer's Disease Progression and Aging.International journal of molecular sciences · 2026Article
- Investigation ofIranian journal of public health · 2024Article
- Cluster Analysis of Cortical Amyloid Burden for Identifying Imaging-driven Subtypes in Mild Cognitive Impairment.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2024Article
- TOM40 regulates the progression of nasopharyngeal carcinoma through ROS-mediated AKT/mTOR and p53 signaling.Discover oncology · 2023Article
- An increase in mitochondrial TOM activates apoptosis to drive retinal neurodegeneration.Scientific reports · 2022Article
- APOE, TOMM40, and sex interactions on neural network connectivity.Neurobiology of aging · 2022Article
- Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.Genes · 2021Review
- Associations of Vascular Risk Factors,Frontiers in psychiatry · 2021Article
- Reassessment of Pioglitazone for Alzheimer's Disease.Frontiers in neuroscience · 2021Review
- A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.Molecular genetics & genomic medicine · 2020Article
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8 authors at 2 institutions in 1 country.
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Abstract
backgroundThe APOE-ε4 allele is an established risk factor for Alzheimer's disease (AD). TOMM40 located adjacent to APOE has also been implicated in AD but reports of TOMM40 associations with AD that are independent of APOE-ε4 are at variance.
methodsWe investigated associations of AD with haplotypes defined by three TOMM40 and two APOE single nucleotide polymorphisms in 73 and 71 autopsy cases with intermediate and high likelihood of AD (defined by BRAAK stages <V and V-VI), respectively, and in 150 controls without major neurodegenerative diseases.
resultsWe observed eight haplotypes with a frequency >0.02. The two haplotypes encoding APOE-E4 showed strong associations with AD that did not differ between intermediate and high likelihood AD. In contrast, a TOMM40 haplotype encoding APOE-E3 was identified as risk haplotype of high- (p = .0186), but not intermediate likelihood AD (p = .7530). Furthermore, the variant allele of rs2075650 located in intron 2 of TOMM40, increased the risk of high-, but not intermediate likelihood AD on the APOE-ε3/ε3 background (p = .0230).
conclusionThe striking association of TOMM40 only with high likelihood AD may explain some contrasting results for TOMM40 in clinical studies and may reflect an association with more advanced disease and/or suggest a role of TOMM40 in the pathogenesis of neurofibrillary tangles.
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