Evidence map›Paper›PMID 21541012›Full record

ArticlePLoS genetics2011

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

Bogdan Pasaniuc, Noah Zaitlen, Guillaume Lettre, Gary K Chen, Arti Tandon, W H Linda Kao, Ingo Ruczinski, Myriam Fornage, David S Siscovick, Xiaofeng Zhu and 35 more

Abstract read
In one paragraph

Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 2 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

93 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Recomb-Mix: fast and accurate local ancestry inference.Bioinformatics (Oxford, England) · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Fast and accurate local ancestry inference with Recomb-Mix.bioRxiv : the preprint server for biology · 2024
    Article
  14. Improved multi-ancestry fine-mapping identifiesmedRxiv : the preprint server for health sciences · 2024
    Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023
    Review

33 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

45 authors.

Bogdan PasaniucDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Noah Zaitlen
Guillaume Lettre
Gary K Chen
Arti Tandon
W H Linda Kao
Ingo Ruczinski
Myriam Fornage
David S Siscovick
Xiaofeng Zhu
Emma Larkin
Leslie A Lange
L Adrienne Cupples
Qiong Yang
Ermeg L Akylbekova
Solomon K Musani
Jasmin Divers
Joe Mychaleckyj
Mingyao Li
George J Papanicolaou
Robert C Millikan
Christine B Ambrosone
Esther M John
Leslie Bernstein
Wei Zheng
Jennifer J Hu
Regina G Ziegler
Sarah J Nyante
Elisa V Bandera
Sue A Ingles
Michael F Press
Stephen J Chanock
Sandra L Deming
Jorge L Rodriguez-Gil
Cameron D Palmer
Sarah Buxbaum
Lynette Ekunwe
Joel N Hirschhorn
Brian E Henderson
Simon Myers
Christopher A Haiman
David Reich
Nick Patterson
James G Wilson
Alkes L Price

Funding

Laboratory of Translational GenomicsZIACP010201 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI PROKUNINA-OLSSON, LIUDMILA · 2010 to 2025
$91.2M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KATHERINE A. HOADLEY · 1992 to 2026
$59.3M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3M
GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2M
Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
Northern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4M
GRADUATE TRAINING IN BIOSTATISTICST32ES007142 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Brent Andrew Coull · 1985 to 2026
$11.9M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Race &Risk Factors for Early/Aggressive Breast CancerR01CA100598 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI AMBROSONE, CHRISTINE B. · 2004 to 2008
$4.8M
CHS Events Follow-up StudyU01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2005 to 2008
$4.6M
JACKSON HEART STUDY--EXAM CENTERN01HC095171 · HC · UNIVERSITY OF MISSISSIPPI MEDICAL CENTER · PI JONES, DANIEL W · 1999 to 2001
$4.6M
DATA COORDINATING CENTER FOR SLEEP HEART STUDYU01HL064360 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI DIENER-WEST, MARIE · 1999 to 2007
$4.4M
NCI NIH HHS 5K99CA126978-02NCI NIH HHS CA-95-011NCI NIH HHS K99 CA126978NCI NIH HHS P50 CA058223NCI NIH HHS P50-CA58223NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA073629NCI NIH HHS R01CA073629NCI NIH HHS R01 CA100374NCI NIH HHS R01-CA100374NCI NIH HHS R01 CA100598NCI NIH HHS R01-CA100598NCI NIH HHS R01-CA63464NCI NIH HHS R01-CA73629NCI NIH HHS R01-CA77305NCI NIH HHS R37 CA054281NCI NIH HHS R37-CA54281NCI NIH HHS U01 CA069417NCI NIH HHS U01-CA69417NHGRI NIH HHS R01 HG006399NHGRI NIH HHS U01 HG004726NHGRI NIH HHS U01 HG004726-01NHLBI NIH HHS N01-HB-72982NHLBI NIH HHS N01-HB-72991NHLBI NIH HHS N01-HB-72992NHLBI NIH HHS N01-HB-72993NHLBI NIH HHS N01-HB-72994NHLBI NIH HHS N01-HB-72995NHLBI NIH HHS N01-HB-72996NHLBI NIH HHS N01-HB-72997NHLBI NIH HHS N01-HB-72998NHLBI NIH HHS N01-HB-73000NHLBI NIH HHS N01-HB-73001NHLBI NIH HHS N01-HB-73002NHLBI NIH HHS N01-HB-73003NHLBI NIH HHS N01-HB-73004NHLBI NIH HHS N01-HB-73005NHLBI NIH HHS N01-HB-73006NHLBI NIH HHS N01-HB-97051NHLBI NIH HHS N01-HB-97053NHLBI NIH HHS N01-HB-97054NHLBI NIH HHS N01-HB-97056NHLBI NIH HHS N01-HB-97058NHLBI NIH HHS N01-HB-97060NHLBI NIH HHS N01-HB-97061NHLBI NIH HHS N01-HB-97062NHLBI NIH HHS N01-HB-97064NHLBI NIH HHS N01-HB-97066NHLBI NIH HHS N01-HB-97068NHLBI NIH HHS N01-HB-97069NHLBI NIH HHS N01-HB-97070NHLBI NIH HHS N01-HB-97071NHLBI NIH HHS N01-HB-97072NHLBI NIH HHS N01-HB-97073NHLBI NIH HHS N01-HB-97085NHLBI NIH HHS N01 HC005187NHLBI NIH HHS N01 HC015103NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC035129NHLBI NIH HHS N01 HC045133NHLBI NIH HHS N01 HC045134NHLBI NIH HHS N01 HC045204NHLBI NIH HHS N01 HC045205NHLBI NIH HHS N01 HC048047NHLBI NIH HHS N01 HC048048NHLBI NIH HHS N01 HC048049NHLBI NIH HHS N01 HC048050NHLBI NIH HHS N01-HC-05187NHLBI NIH HHS N01 HC055015NHLBI NIH HHS N01 HC055016NHLBI NIH HHS N01 HC055018NHLBI NIH HHS N01 HC055019NHLBI NIH HHS N01 HC055020NHLBI NIH HHS N01 HC055021NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC065226NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085084NHLBI NIH HHS N01 HC085085NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095095NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N01 HC095170NHLBI NIH HHS N01 HC095171NHLBI NIH HHS N01 HC095172NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS N01-HC-45204NHLBI NIH HHS N01-HC-45205NHLBI NIH HHS N01-HC-48047NHLBI NIH HHS N01-HC-48048NHLBI NIH HHS N01-HC-48049NHLBI NIH HHS N01-HC-48050NHLBI NIH HHS N01-HC-55015NHLBI NIH HHS N01-HC-55016NHLBI NIH HHS N01-HC-55017NHLBI NIH HHS N01-HC-55018NHLBI NIH HHS N01-HC-55019NHLBI NIH HHS N01-HC-55020NHLBI NIH HHS N01-HC-55021NHLBI NIH HHS N01 HC-55222NHLBI NIH HHS N01-HC-65226NHLBI NIH HHS N01-HC-75150NHLBI NIH HHS N01-HC-85079NHLBI NIH HHS N01-HC-85080NHLBI NIH HHS N01-HC-85081NHLBI NIH HHS N01-HC-85082NHLBI NIH HHS N01-HC-85083NHLBI NIH HHS N01-HC-85086NHLBI NIH HHS N01-HC-95095NHLBI NIH HHS N01-HC-95100NHLBI NIH HHS N01-HC-95159NHLBI NIH HHS N01-HC-9516NHLBI NIH HHS N01-HC-95160NHLBI NIH HHS N01-HC-95161NHLBI NIH HHS N01-HC-95162NHLBI NIH HHS N01-HC-95163NHLBI NIH HHS N01-HC-95164NHLBI NIH HHS N01-HC-95165NHLBI NIH HHS N01-HC-9517NHLBI NIH HHS N01-HC-95170NHLBI NIH HHS N01-HC-95171NHLBI NIH HHS N01-HC-95172NHLBI NIH HHS N01-HC-9518NHLBI NIH HHS N01-HC-9519NHLBI NIH HHS R01 HL046380NHLBI NIH HHS R01 HL46380-01-16NHLBI NIH HHS U01 HL053916NHLBI NIH HHS U01 HL053934NHLBI NIH HHS U01 HL053937NHLBI NIH HHS U01 HL053938NHLBI NIH HHS U01 HL053941NHLBI NIH HHS U01 HL063429NHLBI NIH HHS U01 HL063463NHLBI NIH HHS U01 HL064360NHLBI NIH HHS U01 HL064363NHLBI NIH HHS U01 HL077813NHLBI NIH HHS U01 HL080295NICHD NIH HHS N01-HD-3-3175NIEHS NIH HHS 5T32ES007142-27NIEHS NIH HHS P30 ES010126NIEHS NIH HHS P30-ES10126NIEHS NIH HHS T32 ES007142NIGMS NIH HHS RC1 GM091332NIGMS NIH HHS RC1 GM091332-01PHS HHS HHSN268200960009CWellcome Trust 090532
6 · The paper itself

Abstract

While genome-wide association studies (GWAS) have primarily examined populations of European ancestry, more recent studies often involve additional populations, including admixed populations such as African Americans and Latinos. In admixed populations, linkage disequilibrium (LD) exists both at a fine scale in ancestral populations and at a coarse scale (admixture-LD) due to chromosomal segments of distinct ancestry. Disease association statistics in admixed populations have previously considered SNP association (LD mapping) or admixture association (mapping by admixture-LD), but not both. Here, we introduce a new statistical framework for combining SNP and admixture association in case-control studies, as well as methods for local ancestry-aware imputation. We illustrate the gain in statistical power achieved by these methods by analyzing data of 6,209 unrelated African Americans from the CARe project genotyped on the Affymetrix 6.0 chip, in conjunction with both simulated and real phenotypes, as well as by analyzing the FGFR2 locus using breast cancer GWAS data from 5,761 African-American women. We show that, at typed SNPs, our method yields an 8% increase in statistical power for finding disease risk loci compared to the power achieved by standard methods in case-control studies. At imputed SNPs, we observe an 11% increase in statistical power for mapping disease loci when our local ancestry-aware imputation framework and the new scoring statistic are jointly employed. Finally, we show that our method increases statistical power in regions harboring the causal SNP in the case when the causal SNP is untyped and cannot be imputed. Our methods and our publicly available software are broadly applicable to GWAS in admixed populations.

Indexed as

Genome, HumanAlgorithmsBlack or African AmericanBreast NeoplasmsChromosome MappingCoronary DiseaseDiabetes Mellitus, Type 2FemaleGene FrequencyGenetics, PopulationGenetic VariationGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMaleFGFR2 protein, humanReceptor, Fibroblast Growth Factor, Type 2

Identifiers

PMID21541012
PMCPMC3080860

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