ArticleNature aging2021
Rare genetic coding variants associated with human longevity and protection against age-related diseases.
Article in Nature aging, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 47 citations in OpenAlex.
- Exceptional Parental Longevity and Onset of Morbidity and Mortality Across Cohorts.JAMA network open · 2026Article
- Direct probabilistic quantification of mosaic loss of chromosome Y from sequencing data.bioRxiv : the preprint server for biology · 2026Article
- Centenarian SIRT6 variants elevate SIRT6 protein and enhance cellular senescence resistance.Research square · 2026Article
- TACR3 variant confers resilience to aging and Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study.GeroScience · 2026Article
- Modifiable risk factors attenuated longevity genetic predisposition on life expectancy in the oldest old.npj aging · 2026Article
- Article
- Genetic architecture of human aging and longevity: Insights from genome-wide association studies.BMB reports · 2026Review
- Rare longevity-associated variants, including a reduced-function mutation in cGAS, identified in multigenerational long-lived families.bioRxiv : the preprint server for biology · 2025Article
- German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway.GeroScience · 2025Article
- Identification of functional rare coding variants in IGF-1 gene in humans with exceptional longevity.Scientific reports · 2025Article
- Race and ethnicity dynamics in survival to 100 years in the United States.Journal of internal medicine · 2025Article
- Genetic variants associated with age-related episodic memory decline implicate distinct memory pathologies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- A longevity-specific bank of induced pluripotent stem cells from centenarians and their offspring.Aging cell · 2025Article
- The metabolic sensor AMPK: Twelve enzymes in one.Molecular metabolism · 2024Review
- Depletion of loss-of-function germline mutations in centenarians reveals longevity genes.Nature communications · 2024Article
- Identification of functional rare coding variants in IGF-1 gene in humans with exceptional longevity.bioRxiv : the preprint server for biology · 2024Article
- Biological resilience in health and disease.Disease models & mechanisms · 2024Review
- Genetic, Environmental, and Stochastic Components of Lifespan Variability: TheInternational journal of molecular sciences · 2024Review
- Refeeding-associated AMPKNature aging · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 9 institutions in 4 countries.
Funding
Abstract
Extreme longevity in humans has a strong genetic component, but whether this involves genetic variation in the same longevity pathways as found in model organisms is unclear. Using whole-exome sequences of a large cohort of Ashkenazi Jewish centenarians to examine enrichment for rare coding variants, we found most longevity-associated rare coding variants converge upon conserved insulin/insulin-like growth factor 1 signaling and AMP-activating protein kinase signaling pathways. Centenarians have a number of pathogenic rare coding variants similar to control individuals, suggesting that rare variants detected in the conserved longevity pathways are protective against age-related pathology. Indeed, we detected a pro-longevity effect of rare coding variants in the Wnt signaling pathway on individuals harboring the known common risk allele APOE4. The genetic component of extreme human longevity constitutes, at least in part, rare coding variants in pathways that protect against aging, including those that control longevity in model organisms.
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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.