Evidence map›Paper›PMID 27229898›Full record

ArticleGenetic epidemiology2016

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.

Elisabeth A Rosenthal, Vahagn Makaryan, Amber A Burt, David R Crosslin, Daniel Seung Kim, Joshua D Smith, Deborah A Nickerson, Alex P Reiner, Stephen S Rich, Rebecca D Jackson and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Genetic epidemiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 15% 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

9 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. ModelingJournal of cellular immunology · 2025
    Article
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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

16 authors at 7 institutions in 1 country.

Elisabeth A RosenthalDivision of Medical Genetics, School of Medicine, University of Washington, Seattle, Washington, United States of America.
Vahagn MakaryanDivision of General Internal Medicine, School of Medicine, University of Washington, Seattle, Washington, United States of America.
Amber A BurtDivision of Medical Genetics, School of Medicine, University of Washington, Seattle, Washington, United States of America.
David R CrosslinDepartment of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Daniel Seung KimDepartment of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Joshua D SmithDepartment of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Alex P ReinerDepartment of Epidemiology, School of Public Health, University of Washington, Seattle, Washington, United States of America.
Stephen S RichCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia, United States of America.
Rebecca D JacksonDivision of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, United States of America.
Santhi K GaneshDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.
Linda M PolfusHuman Genetics Center, University of Texas Health Science Center, Houston, Texas, United States of America.
Lihong QiDivision of Biostatistics, Department of Public Health Sciences, School of Medicine, University of California, Davis, California, United States of America.
David C DaleDivision of General Internal Medicine, School of Medicine, University of Washington, Seattle, Washington, United States of America.
University of Washington, Center for Mendelian Genomics
Gail P JarvikDivision of Medical Genetics, School of Medicine, University of Washington, Seattle, Washington, United States of America.
University of Washington · USUniversity of Washington Medical Center · USMichigan United · USThe Ohio State University · USThe University of Texas Health Science Center at Houston · USUniversity of California, Davis · USUniversity of Virginia · US

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Northwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0M
Severe Chronic Neutropenia International RegistryR24AI049393 · NIAID · UNIVERSITY OF WASHINGTON · PI DALE, DAVID CHANDLER · 2004 to 2019
$10.6M
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2M
ARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6M
WHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1M
Human Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817k
NHGRI NIH HHS U01 HG008657NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NIAID NIH HHS R24 AI049393
6 · The paper itself

Abstract

Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant in TCIRG1 have been reported in a single family. Here, we report on nine rare missense variants at evolutionarily conserved sites in TCIRG1 that are associated with lower absolute neutrophil count (ANC; p = 0.005) in 1,058 participants from three cohorts: Atherosclerosis Risk in Communities (ARIC), Coronary Artery Risk Development in Young Adults (CARDIA), and Jackson Heart Study (JHS) of the NHLBI Grand Opportunity Exome Sequencing Project (GO ESP). These results validate the effects of TCIRG1 coding variation on ANC and suggest that this gene may be associated with a spectrum of mild to severe effects on ANC.

Indexed as

AdultAgedAged, 80 and overAllelesCohort StudiesFemaleGene FrequencyGenotypeHigh-Throughput Nucleotide SequencingHumansLeukocyte CountMaleMiddle AgedMutation, MissenseNational Heart, Lung, and Blood Institute (U.S.)NeutropeniaTCIRG1 protein, humanVacuolar Proton-Translocating ATPasesabsolute neutrophil countneutropenianext-generation sequence datarare variant replication

Identifiers

PMID27229898
PMCPMC5079157
OpenAlexW2413590955

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.