Evidence map›Paper›PMID 30589851›Full record

ReviewPLoS genetics2018

Population structure in genetic studies: Confounding factors and mixed models.

Jae Hoon Sul, Lana S Martin, Eleazar Eskin

Abstract readReview
In one paragraph

Review in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 155 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
155citing papers in PubMed, 3 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

155 citing papers in PubMed, 3 syntheses or guidelines pooled it.

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95 more citing papers are in PubMed but not listed here.

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.

Jae Hoon SulDepartment of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, United States of America.
Lana S MartinDepartment of Computer Science, University of California, Los Angeles, California, United States of America.ORCID 0000-0003-2311-7191
Eleazar EskinDepartment of Computer Science, University of California, Los Angeles, California, United States of America.

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
INTEGRATIVE GENETIC APPROACHES TO GENE-AIR POLLUTION INTERACTIONS IN ASTHMAR01ES021801 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI AKBARI, OMID, ALLAYEE, HOOMAN · 2012 to 2016
$3.9M
An integrated molecular approach to understand variation in iron metabolismR01GM083198 · NIGMS · UNIVERSITY OF FLORIDA · PI VULPE, CHRISTOPHER D · 2012 to 2015
$2.7M
Genetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3M
Correcting for Population Structure in Gene-by-Environment Interaction StudiesR01ES022282 · NIEHS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ESKIN, ELEAZAR · 2013 to 2015
$1.2M
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NHLBI NIH HHS K25 HL080079NIDA NIH HHS U01 DA024417NIEHS NIH HHS R01 ES021801NIEHS NIH HHS R01 ES022282NIGMS NIH HHS R01 GM083198NIMH NIH HHS R01 MH101782
6 · The paper itself

Abstract

A genome-wide association study (GWAS) seeks to identify genetic variants that contribute to the development and progression of a specific disease. Over the past 10 years, new approaches using mixed models have emerged to mitigate the deleterious effects of population structure and relatedness in association studies. However, developing GWAS techniques to accurately test for association while correcting for population structure is a computational and statistical challenge. Using laboratory mouse strains as an example, our review characterizes the problem of population structure in association studies and describes how it can cause false positive associations. We then motivate mixed models in the context of unmodeled factors.

Indexed as

Genetics, PopulationModels, GeneticAnimalsBiasDiseaseFemaleGenome-Wide Association StudyHumansLinear ModelsMaleMiceModels, StatisticalPedigreePhenotypePhylogenyPolymorphism, Single Nucleotide

Identifiers

PMID30589851
PMCPMC6307707

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.