Evidence map›Paper›PMID 39751714›Full record

ArticleGeroScience2025

SNP rs6543176 is associated with extreme human longevity but increased risk for cancer.

Anastasia Gurinovich, Zeyuan Song, Harold Bae, Anastasia Leshchyk, Mengze Li, Hannah Lords, Stacy L Andersen, Marianne Nygaard, Kaare Christensen, E Warwick Daw and 4 more

Abstract read
In one paragraph

Article in GeroScience, 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. Review
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

14 authors.

Anastasia GurinovichInstitute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA, 02111, USA. agurinovich@tuftsmedicalcenter.org.ORCID 0000-0001-9808-9397
Zeyuan SongInstitute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA, 02111, USA.
Harold BaeBiostatistics Program, College of Health, Oregon State University, Corvallis, OR, 97331, USA.
Anastasia LeshchykBioinformatics Program, Faculty of Computing & Data Sciences, Boston University, Boston, MA, 02215, USA.
Mengze LiBioinformatics Program, Faculty of Computing & Data Sciences, Boston University, Boston, MA, 02215, USA.
Hannah LordsBioinformatics Program, Faculty of Computing & Data Sciences, Boston University, Boston, MA, 02215, USA.
Stacy L AndersenDepartment of Medicine, Section of Geriatrics, School of Medicine, Boston University, Chobanian & Avedisian, Boston, MA, 02118, USA.
Marianne NygaardEpidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark, Odense, Denmark.
Kaare ChristensenEpidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark, Odense, Denmark.
E Warwick DawDivision of Statistical Genomics, Washington University in St. Louis, St. Louis, MO, 63130, USA.
Konstantin G ArbeevBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC, 27708, USA.
Michael R BrentDivision of Computational and Data Sciences, Center for Genome Sciences and Systems Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA.
Thomas T PerlsDepartment of Medicine, Section of Geriatrics, School of Medicine, Boston University, Chobanian & Avedisian, Boston, MA, 02118, USA.
Paola SebastianiInstitute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA, 02111, USA.

Funding

The Long Life Family StudyU19AG063893 · NIA · WASHINGTON UNIVERSITY · PI PAOLA SEBASTIANI · 2019 to 2026
$125.4M
Systems BiologyU19AG023122 · NIA · TRANSLATIONAL GENOMICS RESEARCH INST · PI Thomas Girke, NICHOLAS Joseph SCHORK · 2004 to 2026
$102.6M
Identifying protective omics profiles in centenarians and translating these into preventive and therapeutic strategiesUH2AG064704 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI PERLS, THOMAS T, SEBASTIANI, PAOLA · 2019 to 2021
$9.4M
Integrative Omics to enhance therapeutics development for healthy agingUH3AG064706 · NIA · TRANSLATIONAL GENOMICS RESEARCH INST · PI MILLER, RICHARD A, SCHORK, NICHOLAS JOSEPH · 2021 to 2024
$3.3M
NIA NIH HHS U19 AG023122NIA NIH HHS U19-AG023122NIA NIH HHS U19 AG063893NIA NIH HHS U19AG063893NIA NIH HHS UH2 AG064704NIA NIH HHS UH2AG064704NIA NIH HHS UH3 AG064706
6 · The paper itself

Abstract

Using whole-genome sequencing (WGS) might offer insights into rare genetic variants associated with healthy aging and extreme longevity (EL), potentially pointing to useful therapeutic targets. In this study, we conducted a genome-wide association study using WGS data from the Long Life Family Study and identified a novel longevity-associated variant rs6543176 in the SLC9A2 gene. This SNP also showed a significant association with reduced hypertension risk and an increased, though not statistically significant, cancer risk. The association with cancer risk was replicated in the UK Biobank and FinnGen. Metabolomic analyses linked the rs6543176 longevity allele to higher serine levels, potentially associated with delayed mortality. Our findings warrant further investigation of SLC9A2's role in both longevity and cancer susceptibility, and they highlight the need for careful evaluation in developing anti-aging therapies based on EL-associated alleles.

Indexed as

LongevityNeoplasmsPolymorphism, Single NucleotideAgedAged, 80 and overAllelesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedWhole Genome SequencingCancerExtreme Longevityrs6543176

Identifiers

PMID39751714
PMCPMC12181136

What OpenQuestion holds

Textmetadata
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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.