Evidence map›Paper›PMID 22230721›Full record

ArticleDNA repair2012

Exonuclease 1 (EXO1) gene variation and melanoma risk.

Fengju Song, Abrar A Qureshi, Jiangwen Zhang, Jiangwen Zhan, Christopher I Amos, Jeffrey E Lee, Qingyi Wei, Jiali Han

Erratum issuedAbstract read
In one paragraph

Article in DNA repair, 2012. 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 24 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 3 pooled it
0.3field-weighted citation impact, top 43% 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

24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
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  11. Genetic variants ofAmerican journal of cancer research · 2021
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  14. Novel genetic variants ofAmerican journal of cancer research · 2020
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  16. Article
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  19. Article
  20. Genetic Variants in WNT2B and BTRC Predict Melanoma Survival.The Journal of investigative dermatology · 2017
    Article
4 · The record

Corrections and comments

  • Erratum issued
    Zhan, Jiangwen [corrected to Zhang, Jiangwen]
5 · Who and what money

Authors and funding

8 authors at 2 institutions in 2 countries.

Fengju SongDepartment of Epidemiology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Abrar A Qureshi
Jiangwen Zhang
Jiangwen Zhan
Christopher I Amos
Jeffrey E Lee
Qingyi Wei
Jiali Han
Harvard University Press · USThe University of Texas MD Anderson Cancer Center · US

Funding

Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
Validity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI WILLETT, WALTER C. · 1991 to 2009
$41.8M
UT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7M
Molecular signatures of melanoma histology and progression: A Population Based AR01CA137365 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI QURESHI, ABRAR A · 2009 to 2013
$1.4M
Cohort Study of Genetic Susceptibility to Cutaneous Malignant MelanomaR01CA122838 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HAN, JIALI · 2008 to 2010
$1.4M
NCI NIH HHS CA055075NCI NIH HHS CA122838NCI NIH HHS CA87969NCI NIH HHS P01 CA055075NCI NIH HHS P01 CA087969NCI NIH HHS P50 CA093459NCI NIH HHS R01 CA122838NCI NIH HHS R01 CA137365
6 · The paper itself

Abstract

objectiveDNA repair pathway genes play an important role in maintaining genomic integrity and protecting against cancer development. This study aimed to identify novel SNPs in the DNA repair-related genes associated with melanoma risk from a genome-wide association study (GWAS).

methodsA total of 8422 SNPs from the 165 DNA repair-related genes were extracted from a GWAS of melanoma risk, including 494 cases and 5628 controls from the Nurses' Health Study (NHS) and the Health Professionals Follow-up Study (HPFS). We further replicated the top SNPs in a GWAS of melanoma risk from the MD Anderson Cancer Center (1804 cases and 1026 controls).

resultsA total of 3 SNPs with P value <0.001 were selected for in silico replication. One SNP was replicated: rs3902093 [A] in EXO1 promoter region (P(discovery)=6.6 × 10⁻⁴, P(replication)=0.039, P(joint)=2.5 × 10⁻⁴; OR(joint)=0.80, 95% CI: 0.71, 0.90). This SNP was associated with the expression of the EXO1; carriers of the A allele showed lower expression (P=0.002).

conclusionOur study found that a promoter region SNP in the editing and processing nucleases gene EXO1 was associated with decreased expression of EXO1 and decreased melanoma risk. Further studies are warranted to validate this association and to investigate the potential mechanisms.

Indexed as

Genetic Predisposition to DiseaseAdultAgedCase-Control StudiesDNA Repair EnzymesExodeoxyribonucleasesFemaleHumansMaleMelanomaMiddle AgedPolymorphism, Single NucleotideReproducibility of ResultsRisk FactorsDNA Repair EnzymesEXO1 protein, humanExodeoxyribonucleases

Identifiers

PMID22230721
PMCPMC3274568
OpenAlexW1978019253

What OpenQuestion holds

Textmetadata
LicenceTDM
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.