Evidence map›Paper›PMID 20208533›Full record

ArticleNature genetics2010

Variance component model to account for sample structure in genome-wide association studies.

Hyun Min Kang, Jae Hoon Sul, Susan K Service, Noah A Zaitlen, Sit-Yee Kong, Nelson B Freimer, Chiara Sabatti, Eleazar Eskin

Abstract read
In one paragraph

Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,670 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1,670citing papers in PubMed, 4 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

1,670 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
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  17. Identifying marker-trait associations for wheat stem sawfly resistance.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
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1,610 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

8 authors.

Hyun Min KangCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Jae Hoon Sul
Susan K Service
Noah A Zaitlen
Sit-Yee Kong
Nelson B Freimer
Chiara Sabatti
Eleazar Eskin

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
STATISTICAL METHODS FOR GENE MAPPINGR01GM053275 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI LANGE, KENNETH L · 1995 to 2019
$9.3M
Translational Methods/Facilities Core (TMF - Core) (8 of 8)PL1NS062410 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI EVANS, CHRISTOPHER J. · 2007 to 2011
$4.6M
Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0M
Whole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1M
Consortium for Neuropsychiatric Phenomics-Coordinating Center (1 of 8)UL1DE019580 · NIDCR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BILDER, ROBERT M · 2008 to 2011
$1.9M
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NHLBI NIH HHS 1K25HL080079NHLBI NIH HHS 6R01HL087679-03NHLBI NIH HHS HL087679-01NHLBI NIH HHS K25 HL080079NHLBI NIH HHS R01 HL087679NIDA NIH HHS U01 DA024417NIDA NIH HHS U01-DA024417NIDCR NIH HHS 5UL1DE019580-03NIDCR NIH HHS UL1 DE019580NIEHS NIH HHS N01 ES045530NIGMS NIH HHS GM053275-14NIGMS NIH HHS R01 GM053275NIH HHS NH084698NIMH NIH HHS 5RL1MH083268-03NIMH NIH HHS P30 1MH083268NIMH NIH HHS RL1 MH083268NINDS NIH HHS 5PL1NS062410-03NINDS NIH HHS PL1 NS062410
6 · The paper itself

Abstract

Although genome-wide association studies (GWASs) have identified numerous loci associated with complex traits, imprecise modeling of the genetic relatedness within study samples may cause substantial inflation of test statistics and possibly spurious associations. Variance component approaches, such as efficient mixed-model association (EMMA), can correct for a wide range of sample structures by explicitly accounting for pairwise relatedness between individuals, using high-density markers to model the phenotype distribution; but such approaches are computationally impractical. We report here a variance component approach implemented in publicly available software, EMMA eXpedited (EMMAX), that reduces the computational time for analyzing large GWAS data sets from years to hours. We apply this method to two human GWAS data sets, performing association analysis for ten quantitative traits from the Northern Finland Birth Cohort and seven common diseases from the Wellcome Trust Case Control Consortium. We find that EMMAX outperforms both principal component analysis and genomic control in correcting for sample structure.

Indexed as

Genome-Wide Association StudyModels, StatisticalHumansModels, GeneticPolymorphism, Single NucleotidePopulation GroupsPrincipal Component AnalysisQuantitative Trait LociSoftware

Identifiers

PMID20208533
PMCPMC3092069

What Socratic 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 Socratic graph.