Evidence map›Paper›PMID 20889494›Full record

ArticleBioinformatics (Oxford, England)2010

Interrogating local population structure for fine mapping in genome-wide association studies.

Huaizhen Qin, Nathan Morris, Sun J Kang, Mingyao Li, Bamidele Tayo, Helen Lyon, Joel Hirschhorn, Richard S Cooper, Xiaofeng Zhu

Open access · hybridAbstract readEvaluation Study
In one paragraph

Article in Bioinformatics (Oxford, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed
4.7field-weighted citation impact, top 5% 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

51 citing papers in PubMed, 72 citations in OpenAlex.

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  7. Improved multi-ancestry fine-mapping identifiesmedRxiv : the preprint server for health sciences · 2024
    Article
  8. Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023
    Review
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  20. Detecting Multiethnic Rare Variants.Methods in molecular biology (Clifton, N.J.) · 2017
    Article
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

9 authors at 4 institutions in 1 country.

Huaizhen QinDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
Nathan Morris
Sun J Kang
Mingyao Li
Bamidele Tayo
Helen Lyon
Joel Hirschhorn
Richard S Cooper
Xiaofeng Zhu
Case Western Reserve University · USHarvard University · USBroad Institute · USLoyola University Chicago · US

Funding

GENETICS OF HYPERTENSION IN BLACKSR01HL053353 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI COOPER, RICHARD STANLEY · 1995 to 2013
$8.3M
Statistical methods for analyzing high-throughput genotype dataR01HG003054 · NHGRI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2005 to 2017
$3.6M
Fine Mapping of Hypertension Genes Detected by Admixture Mapping in the FBPPR01HL086718 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI ZHU, XIAOFENG · 2007 to 2011
$3.3M
Defining an Obesity QTL on Chromosome 3qR01HL074166 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2004 to 2007
$2.9M
Developing Statistical Methods for Disease Gene DiscoveryR01HG004517 · NHGRI · VANDERBILT UNIVERSITY · PI LI, CHUN, LI, MINGYAO · 2008 to 2012
$1.9M
NHGRI NIH HHS HG003054NHGRI NIH HHS R01 HG003054NHGRI NIH HHS R01 HG004517NHGRI NIH HHS R01HG004517NHLBI NIH HHS HL053353NHLBI NIH HHS HL074166NHLBI NIH HHS HL086718NHLBI NIH HHS R01 HL053353NHLBI NIH HHS R01 HL074166NHLBI NIH HHS R01 HL086718
6 · The paper itself

Abstract

motivationAdjustment for population structure is necessary to avoid bias in genetic association studies of susceptibility variants for complex diseases. Population structure may differ from one genomic region to another due to the variability of individual ancestry associated with migration, random genetic drift or natural selection. Current association methods for correcting population stratification usually involve adjustment of global ancestry between study subjects.

resultsWe suggest interrogating local population structure for fine mapping to more accurately locate true casual genes by better adjusting the confounding effect due to local ancestry. By extensive simulations on genome-wide datasets, we show that adjusting global ancestry may lead to false positives when local population structure is an important confounding factor. In contrast, adjusting local ancestry can effectively prevent false positives due to local population structure and thus can improve fine mapping for disease gene localization. We applied the local and global adjustments to the analysis of datasets from three genome-wide association studies, including European Americans, African Americans and Nigerians. Both European Americans and African Americans demonstrate greater variability in local ancestry than Nigerians. Adjusting local ancestry successfully eliminated the known spurious association between SNPs in the LCT gene and height due to the population structure existed in European Americans. CONTACT: xiaofeng.zhu@case.edu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Genome-Wide Association StudyChromosome MappingHumansPolymorphism, Single NucleotidePopulation GroupsPrincipal Component AnalysisSelection, Genetic

Identifiers

PMID20889494
PMCPMC2982153
OpenAlexW2135151366

What OpenQuestion holds

Textmetadata
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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.