Evidence map›Paper›PMID 30877081›Full record

ArticleG3 (Bethesda, Md.)2019

Imperfect Linkage Disequilibrium Generates Phantom Epistasis (& Perils of Big Data).

Gustavo de Los Campos, Daniel Alberto Sorensen, Miguel Angel Toro

Abstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
–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

31 citing papers in PubMed.

  1. Article
  2. Article
  3. Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025
    Article
  4. Article
  5. Many roads to a gene-environment interaction.American journal of human genetics · 2024
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
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  16. Article
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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

3 authors.

Gustavo de Los CamposEpidemiology & Biostatistics, Statistics & Probability departments, IQ-Institute for Quantitative Health Science and Engineering, Michigan State University, East Lansing, US gustavoc@msu.edu.
Daniel Alberto SorensenDepartment of Molecular Biology and Genetics, Faculty of Science and Technology, Aarhus University, Aarhus, Denmark.
Miguel Angel ToroProducción Animal, Universidad Politécnica de Madrid, Madrid, Spain.

Funding

Statistical Tools for Whole-Genome Prediction of Complex Traits and DiseasesR01GM101219 · NIGMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI DE LOS CAMPOS, GUSTAVO · 2012 to 2017
$1.6M
Factors Affecting Prediction Accuracy of Complex Human Traits and DiseasesR01GM099992 · NIGMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI DE LOS CAMPOS, GUSTAVO · 2012 to 2015
$1.0M
NIGMS NIH HHS R01 GM099992NIGMS NIH HHS R01 GM101219
6 · The paper itself

Abstract

The genetic architecture of complex human traits and diseases is affected by large number of possibly interacting genes, but detecting epistatic interactions can be challenging. In the last decade, several studies have alluded to problems that linkage disequilibrium can create when testing for epistatic interactions between DNA markers. However, these problems have not been formalized nor have their consequences been quantified in a precise manner. Here we use a conceptually simple three locus model involving a causal locus and two markers to show that imperfect LD can generate the illusion of epistasis, even when the underlying genetic architecture is purely additive. We describe necessary conditions for such "

Indexed as

Epistasis, GeneticLinkage DisequilibriumQuantitative Trait, HeritableSoftwareAlgorithmsBig DataGenome-Wide Association StudyHumansModels, GeneticPolymorphism, Single NucleotideQuantitative Trait Lociapparent epistasisBig DataepistasisGWASimperfect LDlinkage disequilibriummissing heritabilityphantom epistasis

Identifiers

PMID30877081
PMCPMC6505142

What OpenQuestion holds

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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.