Evidence map›Paper›PMID 22460597›Full record

ArticleGenetic epidemiology2012

Power comparison of admixture mapping and direct association analysis in genome-wide association studies.

Huaizhen Qin, Xiaofeng Zhu

Abstract read
In one paragraph

Article in Genetic epidemiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 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

23 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Admixture Mapping of Lipid Traits in Hispanic Americans.Journal of the American Heart Association · 2025
    Article
  4. Review
  5. Article
  6. Admixture Mapping in African Americans Identifies New Risk Loci for HCV-Related Cirrhosis.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Detecting Multiethnic Rare Variants.Methods in molecular biology (Clifton, N.J.) · 2017
    Article
  17. Article
  18. Article
  19. Article
  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

2 authors.

Huaizhen QinDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Xiaofeng Zhu

Funding

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 HG004517NHGRI NIH HHS R01 HG003054NHGRI NIH HHS R01 HG004517NHLBI NIH HHS HL074166NHLBI NIH HHS HL086718NHLBI NIH HHS R01 HL074166NHLBI NIH HHS R01 HL086718
6 · The paper itself

Abstract

When dense markers are available, one can interrogate almost every common variant across the genome via imputation and single nucleotide polymorphism (SNP) test, which has become a routine in current genome-wide association studies (GWASs). As a complement, admixture mapping exploits the long-range linkage disequilibrium (LD) generated by admixture between genetically distinct ancestral populations. It is then questionable whether admixture mapping analysis is still necessary in detecting the disease associated variants in admixed populations. We argue that admixture mapping is able to reduce the burden of massive comparisons in GWASs; it therefore can be a powerful tool to locate the disease variants with substantial allele frequency differences between ancestral populations. In this report we studied a two-stage approach, where candidate regions are defined by conducting admixture mapping at stage 1, and single SNP association tests are followed at stage 2 within the candidate regions defined at stage 1. We first established the genome-wide significance levels corresponding to the criteria to define the candidate regions at stage 1 by simulations. We next compared the power of the two-stage approach with direct association analysis. Our simulations suggest that the two-stage approach can be more powerful than the standard genome-wide association analysis when the allele frequency difference of a causal variant in ancestral populations, is larger than 0.4. Our conclusion is consistent with a theoretical prediction by Risch and Tang ([2006] Am J Hum Genet 79:S254). Surprisingly, our study also suggests that power can be improved when we use less strict criteria to define the candidate regions at stage 1.

Indexed as

Linkage DisequilibriumPolymorphism, Single NucleotideBlack or African AmericanComputer SimulationGene FrequencyGenome, HumanGenome-Wide Association StudyHapMap ProjectHumansModels, Genetic

Identifiers

PMID22460597
PMCPMC3589174

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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.