Evidence map›Paper›PMID 26888256›Full record

ArticleBlood2016

Novel genetic predictors of venous thromboembolism risk in African Americans.

Wenndy Hernandez, Eric R Gamazon, Erin Smithberger, Travis J O'Brien, Arthur F Harralson, Matthew Tuck, April Barbour, Rick A Kittles, Larisa H Cavallari, Minoli A Perera

Open access · bronzeAbstract read
In one paragraph

Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 pooled it
5.8field-weighted citation impact, top 3% 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

29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.

  1. Pooled it
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  9. Serum albumin, genetic susceptibility, and risk of venous thromboembolism.Research and practice in thrombosis and haemostasis · 2024
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  10. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 6 institutions in 2 countries.

Wenndy HernandezSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL;ORCID http://orcid.org/0000-0003-1753-4634
Eric R GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN; Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;ORCID http://orcid.org/0000-0003-4204-8734
Erin SmithbergerSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL;
Travis J O'BrienDepartment of Pharmacology and Physiology and.ORCID http://orcid.org/0000-0002-0098-5650
Arthur F HarralsonDepartment of Medicine, George Washington University, Washington, DC; Bernard J. Dunn School of Pharmacy, Shenandoah University, Winchester, VA;ORCID http://orcid.org/0000-0003-1005-1840
Matthew TuckVeterans Affairs Medical Center, Washington, DC;
April BarbourDepartment of Medicine, George Washington University, Washington, DC;
Rick A KittlesDivision of Urology, Department of Surgery, University of Arizona College of Medicine, Tucson, AZ; and.
Larisa H CavallariCenter for Pharmacogenomics, Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, FL.
Minoli A PereraSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL;ORCID http://orcid.org/0000-0002-1146-2791
University of Chicago · USGeorge Washington University · USUniversity of Arizona · USUniversity of Florida · USVanderbilt University · USVeterans Health Administration · US

Funding

Using social networks to map and evaluate team science across CTSA hubsUL1TR001427 · NCATS · UNIVERSITY OF FLORIDA · PI MITCHELL, DUANE A. · 2015 to 2024
$37.2M
MULTIDISCIPLINARY CARDIAC SCIENCEST32HL007381 · NHLBI · UNIVERSITY OF CHICAGO · PI JEANNE M DECARA, Yoav Gilad · 1985 to 2026
$12.5M
Genetic Susceptibility and Biomarkers of Platinum-related ToxicitiesR01CA157823 · NCI · UNIVERSITY OF ROCHESTER · PI TRAVIS, LOIS B. · 2012 to 2025
$11.2M
Harnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3M
Health disparity in pharmacogenomics: African American SNPs and drug metabolismR01MD009217 · NIMHD · UNIVERSITY OF CHICAGO · PI PERERA, MINOLI A · 2014 to 2018
$2.0M
Using the Transcriptome for SNP and Gene AnnotationR01MH090937 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2010 to 2012
$825k
The implementation of a pharmacogenomics-based algorithm for warfarin dosingK23HL089808 · NHLBI · UNIVERSITY OF CHICAGO · PI PERERA, MINOLI A · 2009 to 2013
$601k
Comprehensive studies of novel SNPs affecting warfarin dose in African AmericansR21HL106097 · NHLBI · UNIVERSITY OF CHICAGO · PI PERERA, MINOLI A · 2011 to 2012
$437k
NCATS NIH HHS UL1 TR001427NCI NIH HHS CA157823NCI NIH HHS R01 CA157823NHLBI NIH HHS 5T32 HL007381NHLBI NIH HHS K23 HL089808NHLBI NIH HHS K23 HL089808-01A2NHLBI NIH HHS R21 HL106097NHLBI NIH HHS R21 HL106097-01A1NHLBI NIH HHS T32 HL007381NIMHD NIH HHS 1R01MD009217-01NIMHD NIH HHS R01 MD009217NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH101820
6 · The paper itself

Abstract

Venous thromboembolism (VTE) is the third most common life-threatening cardiovascular condition in the United States, with African Americans (AAs) having a 30% to 60% higher incidence compared with other ethnicities. The mechanisms underlying population differences in the risk of VTE are poorly understood. We conducted the first genome-wide association study in AAs, comprising 578 subjects, followed by replication of highly significant findings in an independent cohort of 159 AA subjects. Logistic regression was used to estimate the association between genetic variants and VTE risk. Through bioinformatics analysis of the top signals, we identified expression quantitative trait loci (eQTLs) in whole blood and investigated the messenger RNA expression differences in VTE cases and controls. We identified and replicated single-nucleotide polymorphisms on chromosome 20 (rs2144940, rs2567617, and rs1998081) that increased risk of VTE by 2.3-fold (P< 6 × 10(-7)). These risk variants were found in higher frequency among populations of African descent (>20%) compared with other ethnic groups (<10%). We demonstrate that SNPs on chromosome 20 are cis-eQTLs for thrombomodulin (THBD), and the expression of THBD is lower among VTE cases compared with controls (P= 9.87 × 10(-6)). We have identified novel polymorphisms associated with increased risk of VTE in AAs. These polymorphisms are predominantly found among populations of African descent and are associated with THBD gene expression. Our findings provide new molecular insight into a mechanism regulating VTE susceptibility and identify common genetic variants that increase the risk of VTE in AAs, a population disproportionately affected by this disease.

Indexed as

AgedBlack or African AmericanChromosomes, Human, Pair 20Cohort StudiesFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociRegression AnalysisRisk FactorsRNA, MessengerThrombomodulin

Identifiers

PMID26888256
PMCPMC4832509
OpenAlexW2275359850

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.