Evidence map›Paper›PMID 26566401›Full record

ArticleBioData mining2015

Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.

Logan Dumitrescu, Nicole A Restrepo, Robert Goodloe, Jonathan Boston, Eric Farber-Eger, Sarah A Pendergrass, William S Bush, Dana C Crawford

Abstract read
In one paragraph

Article in BioData mining, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Racial Disparities in Lung Cancer Survival: The Contribution of Stage, Treatment, and Ancestry.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2018
    Article
  5. Review
  6. THE CHALLENGES IN USING ELECTRONIC HEALTH RECORDS FOR PHARMACOGENOMICS AND PRECISION MEDICINE RESEARCH.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2016
    Article
  7. 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

8 authors.

Logan DumitrescuCenter for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 USA.
Nicole A RestrepoCenter for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 USA.
Robert GoodloeCenter for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 USA.
Jonathan BostonCenter for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 USA.
Eric Farber-EgerCenter for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 USA.
Sarah A PendergrassCenter for Systems Genomics, Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802 USA.
William S BushInstitute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Suite 2527, Cleveland, OH 44106 USA.
Dana C CrawfordInstitute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Suite 2527, Cleveland, OH 44106 USA.

Funding

VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Epidemiologic Architecture for Genes Linked to Environment (EAGLE)U01HG004798 · NHGRI · VANDERBILT UNIVERSITY · PI CRAWFORD, DANA C · 2008 to 2013
$8.8M
NCATS NIH HHS UL1 TR000445NCRR NIH HHS UL1 RR024975NHGRI NIH HHS U01 HG004798
6 · The paper itself

Abstract

backgroundRacial/ethnic differences for commonly measured clinical variables are well documented, and it has been postulated that population-specific genetic factors may play a role. The genetic heterogeneity of admixed populations, such as African Americans, provides a unique opportunity to identify genomic regions and variants associated with the clinical variability observed for diseases and traits across populations.

methodTo begin a systematic search for these population-specific genomic regions at the phenome-wide scale, we determined the relationship between global genetic ancestry, specifically European and African ancestry, and clinical variables measured in a population of African Americans from BioVU, Vanderbilt University's biorepository linked to de-identified electronic medical records (EMRs) as part of the Epidemiologic Architecture using Genomics and Epidemiology (EAGLE) study. Through billing (ICD-9) codes, procedure codes, labs, and clinical notes, 36 common clinical and laboratory variables were mined from the EMR, including body mass index (BMI), kidney traits, lipid levels, blood pressure, and electrocardiographic measurements. A total of 15,863 DNA samples from non-European Americans were genotyped on the Illumina Metabochip containing ~200,000 variants, of which 11,166 were from African Americans. Tests of association were performed to examine associations between global ancestry and the phenotype of interest.

resultsIncreased European ancestry, and conversely decreased African ancestry, was most strongly correlated with an increase in QRS duration, consistent with previous observations that African Americans tend to have shorter a QRS duration compared with European Americans. Despite known racial/ethnic disparities in blood pressure, European and African ancestry was neither associated with diastolic nor systolic blood pressure measurements.

conclusionCollectively, these results suggest that this clinical population can be used to identify traits in which population differences may be due, in part, to population-specific genetics.

Identifiers

PMID26566401
PMCPMC4642611

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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.