Evidence map›Paper›PMID 20838612›Full record

ArticlePloS one2010

Multiethnic genetic association studies improve power for locus discovery.

Sara L Pulit, Benjamin F Voight, Paul I W de Bakker

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 7 pooled it
3.2field-weighted citation impact, top 8% 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

36 citing papers in PubMed, 7 syntheses or guidelines pooled it, 57 citations in OpenAlex.

  1. Pooled it
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  8. Article
  9. Polygenic scores in cancer.Nature reviews. Cancer · 2023
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  10. Health equality, race and pharmacogenomics.British journal of clinical pharmacology · 2022
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  14. Article
  15. Article
  16. Genome-Wide Association Studies of Chemotherapeutic Toxicities: Genomics of Inequality.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017
    Review
  17. Review
  18. Article
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  20. 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

3 authors at 2 institutions in 2 countries.

Sara L PulitDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
Benjamin F Voight
Paul I W de Bakker
Harvard University · USMassachusetts Institute of Technology · US

Funding

Statistical Methods for the Design and Interpretation of Deep Resequencing StudieR01MH084676 · NIMH · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2008 to 2010
$1.7M
NIMH NIH HHS R01 MH084676NIMH NIH HHS R01MH084676
6 · The paper itself

Abstract

To date, genome-wide association studies have focused almost exclusively on populations of European ancestry. These studies continue with the advent of next-generation sequencing, designed to systematically catalog and test low-frequency variation for a role in disease. A complementary approach would be to focus further efforts on cohorts of multiple ethnicities. This leverages the idea that population genetic drift may have elevated some variants to higher allele frequency in different populations, boosting statistical power to detect an association. Based on empirical allele frequency distributions from eleven populations represented in HapMap Phase 3 and the 1000 Genomes Project, we simulate a range of genetic models to quantify the power of association studies in multiple ethnicities relative to studies that exclusively focus on samples of European ancestry. In each of these simulations, a first phase of GWAS in exclusively European samples is followed by a second GWAS phase in any of the other populations (including a multiethnic design). We find that nontrivial power gains can be achieved by conducting future whole-genome studies in worldwide populations, where, in particular, African populations contribute the largest relative power gains for low-frequency alleles (<5%) of moderate effect that suffer from low power in samples of European descent. Our results emphasize the importance of broadening genetic studies to worldwide populations to ensure efficient discovery of genetic loci contributing to phenotypic trait variability, especially for those traits for which large numbers of samples of European ancestry have already been collected and tested.

Indexed as

Genome-Wide Association StudyAllelesEthnicityGenetic LociHumansPolymorphism, Single NucleotideWhite People

Identifiers

PMID20838612
PMCPMC2935880
OpenAlexW2118814035

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.