Evidence map›Paper›PMID 36821633›Full record

ReviewPLoS genetics2023

Strategies to investigate and mitigate collider bias in genetic and Mendelian randomisation studies of disease progression.

Ruth E Mitchell, April E Hartley, Venexia M Walker, Apostolos Gkatzionis, James Yarmolinsky, Joshua A Bell, Amanda H W Chong, Lavinia Paternoster, Kate Tilling, George Davey Smith

Open access · goldAbstract readReview
In one paragraph

Review in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 1 pooled it
18.8field-weighted citation impact, top 1% 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

48 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.

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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

10 authors at 1 institution in 2 countries.

Ruth E MitchellMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.ORCID 0000-0002-3506-160X
April E HartleyMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
Venexia M WalkerMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.ORCID 0000-0001-5064-446X
Apostolos GkatzionisMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.ORCID 0000-0003-4942-0025
James YarmolinskyMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
Joshua A BellMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
Amanda H W ChongMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
Lavinia PaternosterMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
Kate TillingMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
George Davey SmithMRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.
University of Bristol · GB

Funding

Medical Research Council MC_PC_20059Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_00011/3Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_00019/4Medical Research Council MC_UU_00032/1
6 · The paper itself

Abstract

Genetic studies of disease progression can be used to identify factors that may influence survival or prognosis, which may differ from factors that influence on disease susceptibility. Studies of disease progression feed directly into therapeutics for disease, whereas studies of incidence inform prevention strategies. However, studies of disease progression are known to be affected by collider (also known as "index event") bias since the disease progression phenotype can only be observed for individuals who have the disease. This applies equally to observational and genetic studies, including genome-wide association studies and Mendelian randomisation (MR) analyses. In this paper, our aim is to review several statistical methods that can be used to detect and adjust for index event bias in studies of disease progression, and how they apply to genetic and MR studies using both individual- and summary-level data. Methods to detect the presence of index event bias include the use of negative controls, a comparison of associations between risk factors for incidence in individuals with and without the disease, and an inspection of Miami plots. Methods to adjust for the bias include inverse probability weighting (with individual-level data), or Slope-Hunter and Dudbridge et al.'s index event bias adjustment (when only summary-level data are available). We also outline two approaches for sensitivity analysis. We then illustrate how three methods to minimise bias can be used in practice with two applied examples. Our first example investigates the effects of blood lipid traits on mortality from coronary heart disease, while our second example investigates genetic associations with breast cancer mortality.

Indexed as

Genome-Wide Association StudyMendelian Randomization AnalysisBiasDisease ProgressionHumansPhenotypeRisk Factors

Identifiers

PMID36821633
PMCPMC9949638
OpenAlexW4321607904

What OpenQuestion holds

Textmetadata
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.