Evidence map›Paper›PMID 29288582›Full record

ArticleGenetic epidemiology2018

Properties of global- and local-ancestry adjustments in genetic association tests in admixed populations.

Eden R Martin, Ilker Tunc, Zhi Liu, Susan H Slifer, Ashley H Beecham, Gary W Beecham

Abstract read
In one paragraph

Article in Genetic epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Genetics of Common Obesity in Children and Adolescents.Annals of the New York Academy of Sciences · 2025
    Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023
    Review
  17. Article
  18. Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
    Article
  19. Review
  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

6 authors.

Eden R MartinJohn P. Hussman Institute for Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.ORCID 0000-0002-4035-9152
Ilker TuncBioinformatics and Systems Biology, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Zhi LiuComparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Susan H SliferJohn P. Hussman Institute for Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.
Ashley H BeechamJohn T. MacDonald Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.
Gary W BeechamJohn P. Hussman Institute for Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

Funding

Genetic Epidemiology of Alzheimer's Disease in HispanicsR37AG015473 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2004 to 2013
$10.8M
GENETIC EPIDEMIOLOGY OF ALZHEIMERS DISEASE IN HISPANICSR01AG015473 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD · 1999 to 2003
$4.6M
Individualized Risk Stratification Using the Genomic ContributionR01HL102487 · NHLBI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, SEO, DAVID M · 2010 to 2014
$3.7M
Genetic Studies of Alzheimer's Disease in Caribbean HispanicsRF1AG015473 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2015 to 2018
$3.3M
Genomic Origins and Admixture in Latinos (GOAL)R01GM090087 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BUSTAMANTE, CARLOS DANIEL, MARTIN, EDEN R. · 2011 to 2014
$1.6M
Genetic Modifiers of Alzheimer Disease in PSEN1 Mutation Carriers in Puerto RicoR56AG051876 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEE, JOSEPH HYUNGWOO, MAYEUX, RICHARD P · 2016 to 2016
$842k
NHLBI NIH HHS R01 HL102487NIA NIH HHS R01 AG015473NIA NIH HHS R37 AG015473NIA NIH HHS R56 AG051876NIA NIH HHS RF1 AG015473NIGMS NIH HHS R01 GM090087
6 · The paper itself

Abstract

Population substructure can lead to confounding in tests for genetic association, and failure to adjust properly can result in spurious findings. Here we address this issue of confounding by considering the impact of global ancestry (average ancestry across the genome) and local ancestry (ancestry at a specific chromosomal location) on regression parameters and relative power in ancestry-adjusted and -unadjusted models. We examine theoretical expectations under different scenarios for population substructure; applying different regression models, verifying and generalizing using simulations, and exploring the findings in real-world admixed populations. We show that admixture does not lead to confounding when the trait locus is tested directly in a single admixed population. However, if there is more complex population structure or a marker locus in linkage disequilibrium (LD) with the trait locus is tested, both global and local ancestry can be confounders. Additionally, we show the genotype parameters of adjusted and unadjusted models all provide tests for LD between the marker and trait locus, but in different contexts. The local ancestry adjusted model tests for LD in the ancestral populations, while tests using the unadjusted and the global ancestry adjusted models depend on LD in the admixed population(s), which may be enriched due to different ancestral allele frequencies. Practically, this implies that global-ancestry adjustment should be used for screening, but local-ancestry adjustment may better inform fine mapping and provide better effect estimates at trait loci.

Indexed as

Genetics, PopulationModels, GeneticRegression AnalysisAfrica, WesternBlack or African AmericanCaribbean RegionConfounding Factors, EpidemiologicEuropeFloridaGene FrequencyGenetic Association StudiesHumansIndians, North AmericanLinkage DisequilibriumMexicoPhenotypeAfrican AmericanbiasconfoundingHispaniclinear regressionlinkage disequilibriumpopulation stratification

Identifiers

PMID29288582
PMCPMC5811405

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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.