Evidence map›Paper›PMID 41057961›Full record

ArticleHuman genomics2025

Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians.

Audre Preena Maria Sundar Raj, Gayathri Selvakumar, James Clement, George M Church, Sudhakar Sivasubramaniam

Abstract read
In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Audre Preena Maria Sundar RajDepartment of Biotechnology, Manonmaniam Sundaranar University, Tirunelveli, Tamil Nadu, 627012, India.ORCID http://orcid.org/0000-0003-0496-3368
Gayathri SelvakumarDepartment of Biotechnology, Manonmaniam Sundaranar University, Tirunelveli, Tamil Nadu, 627012, India.
James ClementBetterhumans Inc., Gainesville, FL, USA.
George M ChurchDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Sudhakar SivasubramaniamDepartment of Biotechnology, Manonmaniam Sundaranar University, Tirunelveli, Tamil Nadu, 627012, India. sudhakar@msuniv.ac.in.ORCID http://orcid.org/0000-0002-1648-5474

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, and mortality, affecting individuals at the level of cellular, organ, and organism. This process is influenced by genetic diversity, socioeconomic status, healthcare infrastructure, lifestyle choices, and cultural practices. Gerontology delves into the factors shaping longevity, aging processes, and aging from both evolutionary and individual perspectives. Centenarians and supercentenarians serve as models for studying exceptional longevity, offering insights into the aging process and resistance to age-related diseases. This research investigates common genetic variations (SNPs) shared among 3 centenarians and 18 supercentenarians, individuals aged 110 years or older. 754,520 SNPs were found to be common among all the 21 samples. Utilizing SNPnexus, a genetic variant annotation tool, we annotated coding variants and assessed potential disease susceptibilities associated with these variants. Ensembl was used as an annotation system, we annotated 1,607,122 variants, and found 11,348 coding variants. Among them, 4980 had non-synonymous variants, and 110 variants were observed to have deleterious effects. These deleterious SNPs were linked with 79 genes among them 16 novel variants were identified in 9 genes. The population frequency comparison using the 1000 Genomes Project and gnomAD revealed that a subset of these common, non-synonymous SNPs and deleterious SNPs had minor allele frequencies (MAF) below 1% or were absent entirely, suggesting potential rare variants specific to this cohort. In addition, we also found statistically significant (p < 0.05) 148 enriched pathways, among them the top enriched pathways such as extracellular matrix (ECM) remodeling, signal transduction, disease-associated pathways, sensory processing and metabolism of proteins and RNA. These preliminary findings may help prioritize candidate variants and genes for future studies on larger cohorts with appropriate controls can help in understanding the genetic basis of exceptional longevity.

Indexed as

AgingLongevityOpen Reading FramesPolymorphism, Single NucleotideAged, 80 and overFemaleGenetic Predisposition to DiseaseHumansMaleCentenarians and supercentenariansGenomic analysisLongevityNovel genetic variantsSNPs

Identifiers

PMID41057961
PMCPMC12506250

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.