Evidence map›Paper›PMID 23444013›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA

Role of genetic heterogeneity and epistasis in bladder cancer susceptibility and outcome: a learning classifier system approach.

Ryan John Urbanowicz, Angeline S Andrew, Margaret Rita Karagas, Jason H Moore

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
–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

21 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  20. Machine learning applications in cancer prognosis and prediction.Computational and structural biotechnology journal · 2015
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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

4 authors.

Ryan John UrbanowiczDepartment of Genetics, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03756, USA. Ryan.j.urbanowicz@dartmouth.edu
Angeline S Andrew
Margaret Rita Karagas
Jason H Moore

Funding

VARIATION IN BIOACCUMULATION AND BIOMAGNIFICATION OF METALS IN NORTHERN US LAKESP42ES007373 · NIEHS · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA · 1995 to 2019
$52.0M
NONMELANOMA SKIN CANCER IN NEW HAMPSHIRER01CA057494 · NCI · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA · 1993 to 2015
$10.9M
Quantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6M
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Bioinformatics Strategies: Biodefense Vaccine ResearchR01AI059694 · NIAID · DARTMOUTH COLLEGE · PI MOORE, JASON H. · 2004 to 2012
$4.5M
Machine Learning Prediction of Cancer SusceptibilityR01LM009012 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H. · 2006 to 2014
$3.3M
Training Program for Quantitative Population Sciences in CancerR25CA134286 · NCI · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA, TOSTESON, TOR D · 2009 to 2018
$3.0M
QUANTITATIVE BIOLOGY RESEARCH INSTITUTEP20RR024475 · NCRR · DARTMOUTH COLLEGE · PI MOORE, JASON H. · 2011 to 2011
$2.3M
Training Program for Quantitative Population Sciences in CancerT32CA134286 · NCI · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA, TOSTESON, TOR D · 2020 to 2024
$1.5M
NCI NIH HHS CA5749NCI NIH HHS R01 CA057494NCI NIH HHS R25 CA134286NCI NIH HHS T32 CA134286NCRR NIH HHS P20 RR024475NIAID NIH HHS AI59694NIAID NIH HHS R01 AI059694NIEHS NIH HHS P42 ES007373NIGMS NIH HHS P20 GM103534NLM NIH HHS LM009012NLM NIH HHS LM010098NLM NIH HHS R01 LM009012NLM NIH HHS R01 LM010098
6 · The paper itself

Abstract

BACKGROUND AND

objectiveDetecting complex patterns of association between genetic or environmental risk factors and disease risk has become an important target for epidemiological research. In particular, strategies that provide multifactor interactions or heterogeneous patterns of association can offer new insights into association studies for which traditional analytic tools have had limited success. MATERIALS AND

methodsTo concurrently examine these phenomena, previous work has successfully considered the application of learning classifier systems (LCSs), a flexible class of evolutionary algorithms that distributes learned associations over a population of rules. Subsequent work dealt with the inherent problems of knowledge discovery and interpretation within these algorithms, allowing for the characterization of heterogeneous patterns of association. Whereas these previous advancements were evaluated using complex simulation studies, this study applied these collective works to a 'real-world' genetic epidemiology study of bladder cancer susceptibility. RESULTS AND DISCUSSION: We replicated the identification of previously characterized factors that modify bladder cancer risk--namely, single nucleotide polymorphisms from a DNA repair gene, and smoking. Furthermore, we identified potentially heterogeneous groups of subjects characterized by distinct patterns of association. Cox proportional hazard models comparing clinical outcome variables between the cases of the two largest groups yielded a significant, meaningful difference in survival time in years (survivorship). A marginally significant difference in recurrence time was also noted. These results support the hypothesis that an LCS approach can offer greater insight into complex patterns of association.

conclusionsThis methodology appears to be well suited to the dissection of disease heterogeneity, a key component in the advancement of personalized medicine.

Indexed as

Artificial IntelligenceEpistasis, GeneticGenetic HeterogeneityGenetic Predisposition to DiseaseAlgorithmsClassificationComputational BiologyHumansPolymorphism, Single NucleotidePrecision MedicineUrinary Bladder NeoplasmsBladder cancerEpistasisHeterogeneityLearning Classifier SystemSmokingXPD

Identifiers

PMID23444013
PMCPMC3721175

What OpenQuestion holds

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Registered trials

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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.