ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2013
TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci.Translational psychiatry · 2021Pooled it
- Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.The journal of prevention of Alzheimer's disease · 2023Trial
- Lorazepam Challenge for Individuals at Varying Genetic Risk for Alzheimer Disease.Alzheimer disease and associated disordersTrial
- A common 19 bp APOE enhancer deletion is protective against Alzheimer's disease in African Americans.Nature communications · 2026Article
- Whole genome sequence analysis of blood lipid levels in >66,000 individuals.Nature communications · 2022Article
- Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study.Clinical interventions in aging · 2022Article
- TOMM40-APOE haplotypes are associated with cognitive decline in non-demented Blacks.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021Article
- The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease.Scientific reports · 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
- Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study.Neurobiology of aging · 2019Article
- Alzheimer's disease pathology explains association between dementia with Lewy bodies and APOE-ε4/TOMM40 long poly-T repeat allele variants.Alzheimer's & dementia (New York, N. Y.) · 2019Article
- The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2018Review
- Neuropathologic features of TOMM40 '523 variant on late-life cognitive decline.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2017Article
- Family history and TOMM40 '523 interactive associations with memory in middle-aged and Alzheimer's disease cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2017Article
- Article
- Mitochondria, Cybrids, Aging, and Alzheimer's Disease.Progress in molecular biology and translational science · 2017Review
- New Genetic Approaches to AD: Lessons from APOE-TOMM40 Phylogenetics.Current neurology and neuroscience reports · 2016Review
- A Genetics-based Biomarker Risk Algorithm for Predicting Risk of Alzheimer's Disease.Alzheimer's & dementia (New York, N. Y.) · 2016Article
- The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.Journal of Parkinson's disease and Alzheimer's disease · 2014Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThis study investigates the association between TOMM40 poly-T length, age at onset, and neuropathology in individuals with Alzheimer's disease (AD) with the apolipoprotein E (APOE) ε3/ε3 allele.
methodsThirty-two presenilin 1 (PSEN1) mutation carriers with AD, 27 presenilin 2 (PSEN2) mutation carriers with AD, 59 participants with late-onset AD (LOAD), and 168 autopsied subjects from a community-based cohort were genotyped for TOMM40 intron 6 poly-T (rs10524523) length using short tandem repeat assays.
resultsAmong AD individuals with PSEN2 mutations, the presence of a long poly-T was associated with an earlier age at onset, whereas there were no such associations for subjects with PSEN1 mutations or LOAD. In community-based participants, the presence of a long poly-T was associated with increased neuritic tangles and a greater likelihood of pathologically diagnosed AD.
conclusionTOMM40 intron 6 poly-T length may explain some of the variation in age at onset in PSEN2 familial AD and may be associated with AD neuropathology in persons with APOE ε3/ε3.
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