ArticleTranslational stroke research2012
TOMM40 in Cerebral Amyloid Angiopathy Related Intracerebral Hemorrhage: Comparative Genetic Analysis with Alzheimer's Disease.
Article in Translational stroke research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- The Impact of Vascular Risk Factors on Cerebral Amyloid Angiopathy: A Cohort Study in Hereditary Cerebral Amyloid Angiopathy and a Systemic Review in Sporadic Cerebral Amyloid Angiopathy.Cerebrovascular diseases (Basel, Switzerland) · 2025Pooled it
- Associations Between Genetic Variants in 19p13 and 19q13 Regions and Susceptibility to Alzheimer Disease: A Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2016Pooled it
- Mitochondrial protein import stress causes lysosomal damage and progressive tissue atrophy.EMBO reports · 2026Article
- Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis.Human molecular genetics · 2025Article
- Amyloid β accelerates age-related proteome-wide protein insolubility.GeroScience · 2024Article
- Article
- APOE, TOMM40, and sex interactions on neural network connectivity.Neurobiology of aging · 2022Article
- Superior Frontal GyrusJournal of Alzheimer's disease reports · 2021Article
- Religious Orders Study and Rush Memory and Aging Project.Journal of Alzheimer's disease : JAD · 2018Review
- APOE and cerebral amyloid angiopathy in community-dwelling older persons.Neurobiology of aging · 2015Article
- The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.Journal of Parkinson's disease and Alzheimer's disease · 2014Article
- Heritability estimates identify a substantial genetic contribution to risk and outcome of intracerebral hemorrhage.Stroke · 2013Article
- Intracerebral hemorrhage: mechanisms and therapies.Translational stroke research · 2012Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
Cerebral amyloid angiopathy (CAA) related intracerebral hemorrhage (ICH) is a devastating form of stroke with no known therapies. Clinical, neuropathological, and genetic studies have suggested both overlap and divergence between the pathogenesis of CAA and the biologically related condition of Alzheimer's disease (AD). Among the genetic loci associated with AD are APOE and TOMM40, a gene in close proximity to APOE. We investigate here whether variants within TOMM40 are associated with CAA-related ICH and CAA neuropathology. Using cohorts from the Massachusetts General Hospital (MGH) and the Alzheimer's Disease Neuroimaging Initiative (ADNI), we designed a comparative analysis of high-density SNP genotype data for CAA-related ICH and AD. APOE ε4 was associated with CAA-related ICH and AD, while APOE ε2 was protective in AD but a risk factor for CAA. A total of 14 SNPs within TOMM40 were associated with AD (p < 0.05 after multiple testing correction), but not CAA-related ICH (all p > 0.20); as a result, all AD-associated SNPs within TOMM40 showed heterogeneity of effect in CAA-related ICH (BD p < 0.001). Analysis of CAA neuropathology in the Religious Orders Study (ROS) and Rush Memory and Aging Project (MAP), however, found that neuritic plaque, diffuse plaque burden, and vascular amyloid burden associated with all TOMM40 SNPs (p < 0.02). These results suggest that alterations in TOMM40 can promote vascular as well as plaque amyloid deposition, but not the full pathogenic pathway leading to CAA-related ICH.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.