Evidence map›Paper›PMID 25390934›Full record

ArticlePloS one2014

Whole-genome sequencing of the world's oldest people.

Hinco J Gierman, Kristen Fortney, Jared C Roach, Natalie S Coles, Hong Li, Gustavo Glusman, Glenn J Markov, Justin D Smith, Leroy Hood, L Stephen Coles and 1 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
4.1field-weighted citation impact, top 5% of its field
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

27 citing papers in PubMed, 89 citations in OpenAlex.

  1. Article
  2. Article
  3. Clinical and neuropathological analysis of Down syndrome over 7 decades of life.Journal of neuropathology and experimental neurology · 2025
    Article
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  7. Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.The journals of gerontology. Series A, Biological sciences and medical sciences · 2021
    Article
  8. Review
  9. Article
  10. Maximum reproductive lifespan correlates with CD33rSIGLEC gene number: Implications for NADPH oxidase-derived reactive oxygen species in aging.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020
    Article
  11. Article
  12. Whole-Exome Sequencing of an Exceptional Longevity Cohort.The journals of gerontology. Series A, Biological sciences and medical sciences · 2019
    Article
  13. Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Article
  19. Article
  20. 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

11 authors at 3 institutions in 1 country.

Hinco J GiermanDepts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America.
Kristen FortneyDepts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America.
Jared C RoachInstitute for Systems Biology, Seattle, WA, United States of America.
Natalie S ColesGerontology Research Group, Los Angeles, CA, United States of America; David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States of America.
Hong LiInstitute for Systems Biology, Seattle, WA, United States of America.
Gustavo GlusmanInstitute for Systems Biology, Seattle, WA, United States of America.
Glenn J MarkovDepts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America.
Justin D SmithDepts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America.
Leroy HoodInstitute for Systems Biology, Seattle, WA, United States of America.
L Stephen ColesGerontology Research Group, Los Angeles, CA, United States of America; David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States of America.
Stuart K KimDepts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America.
Stanford University · USInstitute for Systems Biology · USUniversity of California, Los Angeles · US

Funding

Quantitative Systems BiologyP50GM076547 · NIGMS · INSTITUTE FOR SYSTEMS BIOLOGY · PI BALIGA, NITIN S · 2006 to 2016
$30.6M
Mechanisms of Aging in C. elegansR01AG025941 · NIA · STANFORD UNIVERSITY · PI DAVIS, RONALD WAYNE · 2007 to 2017
$3.1M
NIA NIH HHS R01 AG025941NIGMS NIH HHS P50 GM076547
6 · The paper itself

Abstract

Supercentenarians (110 years or older) are the world's oldest people. Seventy four are alive worldwide, with twenty two in the United States. We performed whole-genome sequencing on 17 supercentenarians to explore the genetic basis underlying extreme human longevity. We found no significant evidence of enrichment for a single rare protein-altering variant or for a gene harboring different rare protein altering variants in supercentenarian compared to control genomes. We followed up on the gene most enriched for rare protein-altering variants in our cohort of supercentenarians, TSHZ3, by sequencing it in a second cohort of 99 long-lived individuals but did not find a significant enrichment. The genome of one supercentenarian had a pathogenic mutation in DSC2, known to predispose to arrhythmogenic right ventricular cardiomyopathy, which is recommended to be reported to this individual as an incidental finding according to a recent position statement by the American College of Medical Genetics and Genomics. Even with this pathogenic mutation, the proband lived to over 110 years. The entire list of rare protein-altering variants and DNA sequence of all 17 supercentenarian genomes is available as a resource to assist the discovery of the genetic basis of extreme longevity in future studies.

Indexed as

Genome, HumanAged, 80 and overAgingDesmocollinsFemaleGenome-Wide Association StudyHomeodomain ProteinsHumansLongevityMaleMutationSequence Analysis, DNADesmocollinsDSC2 protein, humanHomeodomain ProteinsTSHZ3 protein, human

Identifiers

PMID25390934
PMCPMC4229186
OpenAlexW2009026465

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.