Evidence map›Paper›PMID 27346689›Full record

SynthesisAmerican journal of human genetics2016

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

Salman M Tajuddin, Ursula M Schick, John D Eicher, Nathalie Chami, Ayush Giri, Jennifer A Brody, W David Hill, Tim Kacprowski, Jin Li, Leo-Pekka Lyytikäinen and 87 more

Open access · bronzeAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 3 pooled it
4.0field-weighted citation impact, top 6% 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

41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 63 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
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  6. Article
  7. Review
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  11. Article
  12. Causes of Clonal Hematopoiesis: a Review.Current oncology reports · 2023
    Review
  13. Article
  14. Article
  15. Article
  16. Pathogenic germlineCold Spring Harbor molecular case studies · 2021
    Article
  17. Article
  18. SARS-CoV-2 mutation 614G creates an elastase cleavage site enhancing its spread in high AAT-deficient regions.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2021
    Article
  19. Article
  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

97 authors at 20 institutions in 11 countries.

Salman M TajuddinLaboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
Ursula M SchickThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
John D EicherPopulation Sciences Branch, National Heart Lung and Blood Institute, The Framingham Heart Study, Framingham, MA 01702, USA.
Nathalie ChamiDepartment of Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.
Ayush GiriDivision of Epidemiology, Institute for Medicine and Public Health, Vanderbilt University, Nashville, TN 37235, USA.
Jennifer A BrodyDepartment of Medicine, University of Washington, Seattle, WA 98101, USA.
W David HillCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Tim KacprowskiDepartment of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald and Ernst-Mortiz-Arndt University Greifswald, Greifswald 17475, Germany; DZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.
Jin LiDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Palo Alto, CA 94305, USA.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere 33520, Finland; Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere 33014, Finland.
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
Evelin MihailovEstonian Genome Center, University of Tartu, Tartu 51010, Estonia.
Michelle L O'DonoghueTIMI Study Group, Cardiovascular Division, Brigham and Women's Hospital, Boston, MA 02115, USA.
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55454, USA.
Raha PazokiDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam 3000, the Netherlands.
Linda M PolfusHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Albert Vernon SmithIcelandic Heart Association, 201 Kopavogur, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Claudia SchurmannThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Caterina Vacchi-SuzziDepartment of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Dawn M WaterworthGenetics, Target Sciences, GlaxoSmithKline, King of Prussia, PA 19406, USA.
Evangelos EvangelouDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece.
Lisa R YanekDepartment of Medicine, Division of General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Amber BurtDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Ming-Huei ChenPopulation Sciences Branch, National Heart Lung and Blood Institute, The Framingham Heart Study, Framingham, MA 01702, USA.
Frank J A van RooijDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam 3000, the Netherlands.
James S FloydDepartment of Medicine, University of Washington, Seattle, WA 98101, USA.
Andreas GreinacherInstitute for Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald 17475, Germany.
Tamara B HarrisLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Intramural Research Program, NIH, Bethesda, MD 20892, USA.
Heather M HighlandHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
Leslie A LangeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27514, USA.
Yongmei LiuCenter for Human Genetics, Division of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu 51010, Estonia.
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Rasika A MathiasDepartment of Medicine, Divisions of Allergy and Clinical Immunology and General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Deborah A NickersonDepartment of Genome Sciences, School of Medicine, University of Washington, Seattle, WA 98105, USA.
Kjell NikusDepartment of Cardiology, Heart Center, Tampere University Hospital, Tampere 33521, Finland; University of Tampere School of Medicine, Tampere 33014, Finland.
John M StarrCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK; Alzheimer Scotland Dementia Research Centre, Edinburgh EH8 9JZ, UK.
Jean-Claude TardifDepartment of Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.
Ioanna TzoulakiDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece.
Digna R Velez EdwardsVanderbilt Epidemiology Center, Department of Obstetrics and Gynecology, Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN 37203, USA.
Lars WallentinDepartment of Medical Sciences, Cardiology, and Uppsala Clinical Research Center, Uppsala University, 751 85 Uppsala, Sweden.
Traci M BartzDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Lewis C BeckerDepartment of Medicine, Divisions of Cardiology and General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Joshua C DennyDepartment of Biomedical Informatics, School of Medicine, Vanderbilt University, Nashville, TN 37203, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27514, USA.
John D RiouxDepartment of Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.
Nele FriedrichDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany; Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald 13347, Germany.
Myriam FornageInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
He GaoDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK.
Joel N HirschhornProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
David C M LiewaldCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
Andre UitterlindenDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam 3000, the Netherlands; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam 3000, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam 3015, the Netherlands.
Lisa BastaracheDepartment of Biomedical Informatics, School of Medicine, Vanderbilt University, Nashville, TN 37203, USA.
Diane M BeckerDepartment of Medicine, Division of General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Eric BoerwinkleHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Simon de DenusMontreal Heart Institute, Montréal, QC H1T 1C8, Canada; Faculty of Pharmacy, Université de Montréal, Montréal, QC H3T 1J4, Canada.
Erwin P BottingerThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Albert HofmanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam 3000, the Netherlands; Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA 02115, USA.
Georg HomuthDepartment of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald and Ernst-Mortiz-Arndt University Greifswald, Greifswald 17475, Germany.
Ethan LangeDepartments of Genetics and Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Lenore J LaunerLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Intramural Research Program, NIH, Bethesda, MD 20892, USA.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere 33520, Finland; Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere 33014, Finland.
Yingchang LuThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu 51010, Estonia.
Chris J O'DonnellNational Heart, Lung, and Blood Institute, The Framingham Heart Study, Framingham, MA 01702, USA; Cardiology Section and Center for Population Genomics, Boston Veteran's Administration (VA) Healthcare, Boston, MA 02118, USA.
Rakale C QuarellsMorehouse School of Medicine, Social Epidemiology Research Center, Cardiovascular Research Institute, Atlanta, GA 30310, USA.
Melissa RichardInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Eric S TorstensonDivision of Epidemiology, Institute for Medicine and Public Health, Vanderbilt University, Nashville, TN 37235, USA.
Kent D TaylorInstitute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Anne-Claire VergnaudDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK.
Alan B ZondermanLaboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
David R CrosslinDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, USA.
Ian J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Marcus DörrDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, Germany; Department of Cardiology, University Medicine Greifswald, Greifswald 17475, Germany.
Paul ElliottDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK.
Michele K EvansLaboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
Vilmundur GudnasonIcelandic Heart Association, 201 Kopavogur, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital, Tampere 33521, Finland; Department of Clinical Physiology, University of Tampere School of Medicine, Tampere 33014, Finland.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Epidemiology, Health Services, and Medicine, University of Washington, Seattle, WA 98101, USA; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Andrew J SlaterOmicSoft Corporation, Cary, NC 27513, USA; Genetics, Target Sciences, GlaxoSmithKline, Research Triangle Park, NC 27709, USA.
Abbas DehghanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam 3000, the Netherlands.
Harvey D WhiteGreen Lane Cardiovascular Service, Auckland City Hospital and University of Auckland, Auckland 1142, New Zealand.
Santhi K GaneshDepartments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48108, USA.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Tõnu EskoEstonian Genome Center, University of Tartu, Tartu 51010, Estonia; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA.
Nauder FaradayDepartment of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Mary CushmanDivision of Hematology Oncology, Department of Medicine, The University of Vermont, Colchester, VT 05446, USA.
Andrew D JohnsonPopulation Sciences Branch, National Heart Lung and Blood Institute, The Framingham Heart Study, Framingham, MA 01702, USA.
Todd L EdwardsDivision of Epidemiology, Department of Medicine, Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN 37203, USA.
Neil A ZakaiDivision of Hematology Oncology, Department of Medicine, The University of Vermont, Colchester, VT 05446, USA.
Guillaume LettreDepartment of Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.
Alex P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA 98195, USA; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. Electronic address: apreiner@u.washington.edu.
Paul L AuerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI 53205, USA. Electronic address: pauer@uwm.edu.
National Institute on Aging · USVanderbilt University · USIcahn School of Medicine at Mount Sinai · USUniversité de Montréal · CAUniversity of Washington · USErasmus MC · NLImperial College London · GBThe University of Texas Health Science Center at Houston · USUniversitätsmedizin Greifswald · DEUniversity of North Carolina at Chapel Hill · USUniversity of Tartu · EEFramingham Heart Study · USJohns Hopkins University · USUniversity of Edinburgh · GBGlaxoSmithKline (United States) · USHarbor–UCLA Medical Center · USIcelandic Heart Association · ISJohns Hopkins Medicine · USTampere University · FITampere University Hospital · FI

Funding

Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
Healthy Aging In Neighborhoods of Diversity Across the Life Span (HANDLS)ZIAAG000513 · NIA · NATIONAL INSTITUTE ON AGING · PI EVANS, MICHELE K · 2009 to 2025
$70.9M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Cardiovascular Epidemiology Training GrantT32HL007055 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Wayne D. Rosamond · 1986 to 2026
$10.0M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
A Family-based Exome Sequencing Approach to Identify Platelet Aggregation GenesR01HL112064 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI MATHIAS, RASIKA ANN · 2012 to 2015
$5.1M
Genetic Studies of The Impact of Hematologic Traits On Cardiovascular DiseaseR01HL122684 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GANESH, SANTHI K · 2015 to 2019
$3.4M
Medical Research Council MC_PC_U127561128Medical Research Council MR/K026992/1NCATS NIH HHS UL1 TR000124NCRR NIH HHS UL1 RR025005NHGRI NIH HHS U01 HG008657NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL122684NHLBI NIH HHS R21 HL121422NHLBI NIH HHS R21 HL121429NHLBI NIH HHS T32 HL007055NIAMS NIH HHS F32 AR059469NICHD NIH HHS R01 HD074711NIDDK NIH HHS P30 DK063491NIH HHS S10 OD018522
6 · The paper itself

Abstract

White blood cells play diverse roles in innate and adaptive immunity. Genetic association analyses of phenotypic variation in circulating white blood cell (WBC) counts from large samples of otherwise healthy individuals can provide insights into genes and biologic pathways involved in production, differentiation, or clearance of particular WBC lineages (myeloid, lymphoid) and also potentially inform the genetic basis of autoimmune, allergic, and blood diseases. We performed an exome array-based meta-analysis of total WBC and subtype counts (neutrophils, monocytes, lymphocytes, basophils, and eosinophils) in a multi-ancestry discovery and replication sample of ∼157,622 individuals from 25 studies. We identified 16 common variants (8 of which were coding variants) associated with one or more WBC traits, the majority of which are pleiotropically associated with autoimmune diseases. Based on functional annotation, these loci included genes encoding surface markers of myeloid, lymphoid, or hematopoietic stem cell differentiation (CD69, CD33, CD87), transcription factors regulating lineage specification during hematopoiesis (ASXL1, IRF8, IKZF1, JMJD1C, ETS2-PSMG1), and molecules involved in neutrophil clearance/apoptosis (C10orf54, LTA), adhesion (TNXB), or centrosome and microtubule structure/function (KIF9, TUBD1). Together with recent reports of somatic ASXL1 mutations among individuals with idiopathic cytopenias or clonal hematopoiesis of undetermined significance, the identification of a common regulatory 3' UTR variant of ASXL1 suggests that both germline and somatic ASXL1 mutations contribute to lower blood counts in otherwise asymptomatic individuals. These association results shed light on genetic mechanisms that regulate circulating WBC counts and suggest a prominent shared genetic architecture with inflammatory and autoimmune diseases.

Indexed as

Genetic PleiotropyGenome-Wide Association StudyBlood Cell CountExomeGenetic LociHumansImmune System DiseasesLeukocytesQuality Control

Identifiers

PMID27346689
PMCPMC5005433
OpenAlexW2467549285

What OpenQuestion holds

Textmetadata
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.