Evidence map›Paper›PMID 31748686›Full record

ArticleScientific reports2019

An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer.

Jong Jin Oh, Manu Shivakumar, Jason Miller, Shefali Verma, Hakmin Lee, Sung Kyu Hong, Sang Eun Lee, Younghee Lee, Soo Ji Lee, Joohon Sung and 2 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. 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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.0field-weighted citation impact, top 20% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Downregulated antisense lncRNAAmerican journal of cancer research · 2024
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  3. Article
  4. Exploration of the Effect on Genome-Wide DNA Methylation byInternational journal of molecular sciences · 2021
    Article
  5. Article
  6. Review
  7. Deletion of theInternational journal of molecular sciences · 2021
    Article
  8. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 2 countries.

Jong Jin OhDepartment of Urology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Manu ShivakumarDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jason MillerDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Shefali VermaDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hakmin LeeDepartment of Urology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Sung Kyu HongDepartment of Urology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.ORCID http://orcid.org/0000-0002-8344-6774
Sang Eun LeeDepartment of Urology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Younghee LeeDepartment of Biomedical Informatics, University of Utah, University of Utah School of Medicine, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-6850-0082
Soo Ji LeeComplex Diseases and Genome Epidemiology Laboratory, Department of Public Health, Graduate School of Public Health, Seoul National University, Seoul, Korea.
Joohon SungComplex Diseases and Genome Epidemiology Laboratory, Department of Public Health, Graduate School of Public Health, Seoul National University, Seoul, Korea.
Dokyoon KimDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Dokyoon.Kim@pennmedicine.upenn.edu.
Seok-Soo ByunDepartment of Urology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. ssbyun@snubh.org.
Seoul National University Bundang Hospital · KRUniversity of Pennsylvania · USSeoul National University · KRUniversity of Utah · US

Funding

Postdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2M
Integrating Neuroimaging, Multi-omics, and Clinical Data in Complex DiseaseR01LM012535 · NLM · INDIANA UNIVERSITY INDIANAPOLIS · PI NHO, KWANGSIK TIMOTHY · 2017 to 2021
$1.7M
NHGRI NIH HHS T32 HG009495NLM NIH HHS R01 LM012535
6 · The paper itself

Abstract

Since prostate cancer is highly heritable, common variants associated with prostate cancer have been studied in various populations, including those in Korea. However, rare and low-frequency variants have a significant influence on the heritability of the disease. The contributions of rare variants to prostate cancer susceptibility have not yet been systematically evaluated in a Korean population. In this work, we present a large-scale exome-wide rare variant analysis of 7,258 individuals (985 cases with prostate cancer and 6,273 controls). In total, 19 rare variant loci spanning 7 genes contributed to an association with prostate cancer susceptibility. In addition to replicating previously known susceptibility genes (e.g., CDYL2, MST1R, GPER1, and PARD3B), 3 novel genes were identified (FDR q < 0.05), including the non-coding RNAs ENTPD3-AS1, LOC102724438, and protein-coding gene SPATA3. Additionally, 6 pathways were identified based on identified variants and genes, including estrogen signaling pathway, signaling by MST1, IL-15 production, MSP-RON signaling pathway, and IL-12 signaling and production in macrophages, which are known to be associated with prostate cancer. In summary, we report novel genes and rare variants that potentially play a role in prostate cancer susceptibility in the Korean population. These observations demonstrated a path towards one of the fundamental goals of precision medicine, which is to identify biomarkers for a subset of the population with a greater risk of disease than others.

Identifiers

PMID31748686
PMCPMC6868235
OpenAlexW2991562362

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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.