Evidence map›Paper›PMID 32946765›Full record

ArticleAmerican journal of human genetics2020

Generalizability of "GWAS Hits" in Clinical Populations: Lessons from Childhood Cancer Survivors.

Cindy Im, Na Qin, Zhaoming Wang, Weiyu Qiu, Carrie R Howell, Yadav Sapkota, Wonjong Moon, Wassim Chemaitilly, Todd M Gibson, Daniel A Mulrooney and 9 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
3.9field-weighted citation impact, top 7% 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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
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  6. Review
  7. Article
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  11. Article
  12. Polygenic Risk Score Improves Risk Stratification and Prediction of Subsequent Thyroid Cancer after Childhood Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021
    Article
  13. Article
  14. Genome-wide Association Studies Reveal Novel Locus With Sex-/Therapy-Specific Fracture Risk Effects in Childhood Cancer Survivors.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021
    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

19 authors at 4 institutions in 2 countries.

Cindy ImSchool of Public Health, University of Alberta, Edmonton, AB, T6G 1C9, Canada. Electronic address: cim1@ualberta.ca.
Na QinDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Zhaoming WangDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Weiyu QiuSchool of Public Health, University of Alberta, Edmonton, AB, T6G 1C9, Canada.
Carrie R HowellDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yadav SapkotaDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Wonjong MoonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Wassim ChemaitillyDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Division of Endocrinology, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Todd M GibsonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Daniel A MulrooneyDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Kirsten K NessDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Carmen L WilsonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Lindsay M MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Gregory T ArmstrongDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Smita BhatiaInstitute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Jinghui ZhangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Melissa M HudsonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Leslie L RobisonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yutaka YasuiDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; School of Public Health, University of Alberta, Edmonton, AB, T6G 1C9, Canada.
St. Jude Children's Research Hospital · USUniversity of Alberta · CANational Cancer Institute · USUniversity of Alabama at Birmingham · US

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
Mach-LETSGO: Machine-LEarning of Treatment, Survey, and Genetics towards Obtaining Correct Classification of Chronic Conditions in Adult Survivors in the Childhood Cancer Survivor Study - CCSS SupplU24CA055727 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Gregory Armstrong · 1999 to 2026
$96.7M
The St. Jude Lifetime CohortU01CA195547 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI HUDSON, MELISSA M, NESS, KIRSTEN KIMBERLIE · 2015 to 2024
$14.9M
Late Effects Prediction using Clinical Phenotypes and Whole Genome SequencingR01CA216354 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI YASUI, YUTAKA, ZHANG, JINGHUI · 2017 to 2021
$3.4M
NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA216354NCI NIH HHS U01 CA195547NCI NIH HHS U24 CA055727
6 · The paper itself

Abstract

With mounting interest in translating genome-wide association study (GWAS) hits from large meta-analyses (meta-GWAS) in diverse clinical settings, evaluating their generalizability in target populations is crucial. Here, we consider long-term survivors of childhood cancers from the St. Jude Lifetime Cohort Study, and we show the limited generalizability of 1,376 robust SNP associations reported in the general population across 12 complex anthropometric and cardiometabolic phenotypes (n = 2,231; observed-to-expected replication ratio = 0.70, p = 6.2 × 10

Indexed as

Cancer SurvivorsEpigenesis, GeneticGene Expression Regulation, NeoplasticGenes, NeoplasmAnthropometryAntineoplastic Combined Chemotherapy ProtocolsChildCohort StudiesDNA MethylationFemaleGenome-Wide Association StudyGenotypeHumansHypothalamic NeoplasmsMaleMeta-Analysis as Topiccardiovascular diseasechemotherapychildhood cancer survivorDNA methylationgenome-wide association studymetabolic diseasepolygenic risk scorepolygenic risk score generalizabilityradiation therapyreplication

Identifiers

PMID32946765
PMCPMC7536574
OpenAlexW3087161268

What OpenQuestion holds

Textmetadata
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.