SynthesisAmerican journal of human genetics2017
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Open access · bronzeAbstract readMeta-Analysis
In one paragraph
Synthesis in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 3 pooled it
5.1field-weighted citation impact, top 5% of its field
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.
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.
Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.Kidney international · 2022Pooled it
- Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans.PLoS genetics · 2018Pooled it
- Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.Molecular genetics & genomic medicine · 2019Trial
- Trajectory inference from single-cell genomics data with a process time model.PLoS computational biology · 2025Article
- Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.Journal of human genetics · 2023Article
- Interplay between hereditary and acquired factors determines the neutrophil counts in older individuals.Blood advances · 2023Article
- Similarity and diversity of genetic architecture for complex traits between East Asian and European populations.BMC genomics · 2023Article
- Translating non-coding genetic associations into a better understanding of immune-mediated disease.Disease models & mechanisms · 2023Review
- Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies.Genomics & informatics · 2022Article
- Genome-Wide Association Study on the Hematological Phenotypic Characteristics of the Han Population from Northwest China.Pharmacogenomics and personalized medicine · 2022Article
- Misuse of the term 'trans-ethnic' in genomics research.Nature genetics · 2021Article
- Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.Genome biology · 2021Article
- An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.Human molecular genetics · 2021Article
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.American journal of human genetics · 2021Article
- Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function.Genetic epidemiology · 2021Article
- The Importance of Glycosylation in COVID-19 Infection.Advances in experimental medicine and biology · 2021Article
- Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.Nature genetics · 2020Article
- Associations between blood type and COVID-19 infection, intubation, and death.Nature communications · 2020Article
- Testing the association between blood type and COVID-19 infection, intubation, and death.medRxiv : the preprint server for health sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
101 authors at 20 institutions in 12 countries.
Frank J A van RooijDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Rehan QayyumGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Albert V SmithFaculty of Medicine, University of Iceland, 101 Reykjavik, Iceland; Icelandic Heart Association, 210 Kopavogur, Iceland.
Yi ZhouHarvard Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.
Stella TrompetDepartment of Cardiology, Leiden University Medical Center, 2300 AC Leiden, the Netherlands; Department of Gerontology and Geriatrics, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
Toshiko TanakaNational Institute on Aging, NIH, Baltimore, MD 21224, USA.
Margaux F KellerLaboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Li-Ching ChangInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
Helena SchmidtInstitute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, 8010 Graz, Austria.
Min-Lee YangDivision of Cardiovascular Medicine, Department of Internal Medicine, Department of Human Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA.
Ming-Huei ChenDepartment of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
James HayesIcahn Institute for Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Andrew D JohnsonFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
Lisa R YanekGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Christian MuellerDepartment of General and Interventional Cardiology, University Heart Centre Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Hamburg, Lübeck, Kiel, Hamburg 20246, Germany.
Leslie LangeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
James S FloydDepartment of Medicine, University of Washington, Seattle, WA 98195-6420, USA.
Mohsen GhanbariDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Genetics, School of Medicine, Mashhad University of Medical Sciences, 91375-345 Mashhad, Iran.
Alan B ZondermanNational Institute on Aging, NIH, Bethesda, MD 20892-9205, USA.
J Wouter JukemaDepartment of Cardiology, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Karl C DeschUniversity of Michigan Medical School, Ann Arbor, MI 48109, USA.
Yasaman SabaInstitute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, 8010 Graz, Austria.
Ayse B OzelUniversity of Michigan Medical School, Ann Arbor, MI 48109, USA.
Beverly M SnivelyDepartment of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Jer-Yuarn WuInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; School of Chinese Medicine, China Medical University, Taichung 40402, Taiwan.
Reinhold SchmidtClinical Division of Neurogeriatrics, Department of Neurology, Medical University Graz, 8010 Graz, Austria.
Myriam FornageHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Robert J KleinIcahn Institute for Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Caroline S FoxFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
Koichi MatsudaLaboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
Naoyuki KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Philipp S WildCenter for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, 55131 Mainz, Germany; German Center for Cardiovascular Research (DZHK), Partner Site RhineMain, Mainz, Germany; Preventive Cardiology and Preventive Medicine, Center for Cardiology, University Medical Center of the Johannes Gutenberg-University Mainz, 55131 Mainz, Germany.
David J StottInstitute of Cardiovascular and Medical Sciences, Faculty of Medicine, University of Glasgow, Glasgow G12 8QQ, UK.
Ian FordRobertson Center for Biostatistics, University of Glasgow, Glasgow G12 8QQ, UK.
P Eline SlagboomDepartment of Medical Statistics and Bioinformatics, Section of Molecular Epidemiology, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
Jaden YangQuantitative Sciences Unit, School of Medicine, Stanford University, Stanford, CA 94304, USA.
Audrey Y ChuDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA.
Amy J LambertThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
André G UitterlindenDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Oscar H FrancoDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Edith HoferClinical Division of Neurogeriatrics, Department of Neurology, Medical University Graz, 8010 Graz, Austria; Institute of Medical Informatics, Statistics and Documentation, Medical University Graz, 8010 Graz, Austria.
David GinsburgUniversity of Michigan Medical School, Ann Arbor, MI 48109, USA.
Bella HuHarvard Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.
Brendan KeatingCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ursula M SchickPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Jennifer A BrodyDepartment of Medicine, University of Washington, Seattle, WA 98195-6420, USA.
Jun Z LiUniversity of Michigan Medical School, Ann Arbor, MI 48109, USA.
Zhao ChenDepartment of Epidemiology and Biostatistics, Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson, AZ 85724, USA.
Tanja ZellerDepartment of General and Interventional Cardiology, University Heart Centre Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Hamburg, Lübeck, Kiel, Hamburg 20246, Germany.
Jack M GuralnikDepartment of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA; Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Luanne L PetersThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
Michiaki KuboLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Diane M BeckerGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Jin LiCardiovascular Medicine Division, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94304, USA.
Gudny EiriksdottirIcelandic Heart Association, 210 Kopavogur, Iceland.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Departments of Pediatrics and Medicine, LABioMed at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Daniel LevyFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
Vera GrossmannCenter for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, 55131 Mainz, Germany.
Kushang V PatelNational Institute on Aging, NIH, Bethesda, MD 20892-9205, USA.
Chien-Hsiun ChenInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; School of Chinese Medicine, China Medical University, Taichung 40402, Taiwan.
BioBank Japan Project
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA; Division of Cardiovascular Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Hua TangDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Lenore J LaunerLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Intramural Research Program, NIH, Bethesda, MD 20892-9205, USA.
Kenneth M RiceDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Ruifang Li-GaoDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 AC, the Netherlands.
Luigi FerrucciNational Institute on Aging, NIH, Baltimore, MD 21224, USA.
Michelle K EvansHealth Disparities Research Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 20892, USA.
Avik ChoudhuriHarvard Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.
Eirini TrompoukiStem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA; Max Planck Institute of Immunobiology and Epigenetics, Freiburg 79108, Germany.
Brian J AbrahamWhitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.
Song YangHarvard Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.
Atsushi TakahashiLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Charles KooperbergBiostatistics and Biomathematics, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Tamara B HarrisLaboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Intramural Research Program, NIH, Bethesda, MD 20892-9205, USA.
Sun Ha JeeInstitute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 03722, Korea.
Josef CoreshJohns Hopkins Bloomberg School of Public Health, George W. Comstock Center for Public Health Research and Prevention, Comstock Center & Cardiovascular Epidemiology, Welch Center for Prevention, Epidemiology and Clinical Research, Baltimore, MD 21205, USA.
Fuu-Jen TsaiSchool of Chinese Medicine, China Medical University, Taichung 40402, Taiwan.
Dan L LongoLaboratory of Genetics and Genomics, National Institute on Aging, NIH, Baltimore, MD 21225, USA.
Yuan-Tsong ChenInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
Janine F FelixDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Qiong YangFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA; Department of Biostatistics, Boston University of Public Health, Boston, MA 02118, USA.
Bruce M PsatyDepartments of Epidemiology, Health Services, and Medicine, University of Washington, Seattle, WA 98195, USA; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA.
Eric BoerwinkleHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Lewis C BeckerGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Dennis O Mook-KanamoriDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 AC, the Netherlands; Department of BESC, Epidemiology Section, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Public Health and Primary Care, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Vilmundur GudnasonFaculty of Medicine, University of Iceland, 101 Reykjavik, Iceland; Icelandic Heart Association, 210 Kopavogur, Iceland.
Christopher J O'DonnellFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
Abbas DehghanDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Biostatistics and Epidemiology, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College, W2 1PG London, UK.
L Adrienne CupplesFramingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA; Department of Biostatistics, Boston University of Public Health, Boston, MA 02118, USA.
Michael A NallsLaboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Andrew P MorrisDepartment of Biostatistics, University of Liverpool, Block F, Waterhouse Building, 1-5 Brownlow Street, Liverpool L69 3GL, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Yukinori OkadaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
Alexander P ReinerPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.
Leonard I ZonHarvard Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Pediatric Hematology/Oncology at DFCI, Harvard Stem Cell Institute, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.
Santhi K GaneshDivision of Cardiovascular Medicine, Department of Internal Medicine, Department of Human Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: sganesh@umich.edu.
National Institute on Aging · USUniversity of Michigan · USErasmus MC · NLHoward Hughes Medical Institute · USJohns Hopkins University · USLeiden University Medical Center · NLRIKEN Center for Integrative Medical Sciences · JPMedical University of Graz · ATNational Heart Lung and Blood Institute · USUniversity of Washington · USBoston University · USBrigham and Women's Hospital · USChina Medical University · TWFred Hutch Cancer Center · USIcahn School of Medicine at Mount Sinai · USInstitute of Biomedical Sciences, Academia Sinica · TWJackson Laboratory · USJohannes Gutenberg University Mainz · DEStanford University · USThe University of Texas Health Science Center at Houston · US
Funding
Healthy Aging In Neighborhoods of Diversity Across the Life Span (HANDLS)ZIAAG000513 · NIA · NATIONAL INSTITUTE ON AGING · PI EVANS, MICHELE K · 2009 to 2025
$70.9MShared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MTRANSCRIPTION FACTOR GATA-1 IN TERMINAL ERYTHROID DEVELOPMENTP01HL032262 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI ORKIN, STUART H · 1985 to 2021
$38.9MCardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MStem Cell and Transplantation BiologyU54DK106829 · NIDDK · FRED HUTCHINSON CANCER RESEARCH CENTER · PI DEREK L STIREWALT · 2015 to 2026
$9.1MStem cells for therapeutics discovery in genetic blood disordersU01HL134812 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI DALEY, GEORGE Q, LIPTON, JEFFREY M · 2016 to 2022
$8.3MProject-002U54DK110805 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI ORKIN, STUART H, ZON, LEONARD IRA · 2016 to 2020
$5.9MEMBRYONIC HEMATOPOIESISR01HL048801 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI ZON, LEONARD IRA · 1992 to 2016
$5.7MGenetic Studies of The Impact of Hematologic Traits On Cardiovascular DiseaseR01HL122684 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GANESH, SANTHI K · 2015 to 2019
$3.4MNCATS NIH HHS UL1 TR000124NCI NIH HHS P30 CA034196NHLBI NIH HHS P01 HL032262NHLBI NIH HHS R01 HL039693NHLBI NIH HHS R01 HL048801NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL112642NHLBI NIH HHS R01 HL122684NHLBI NIH HHS U01 HL134812NIDDK NIH HHS P30 DK063491NIDDK NIH HHS U54 DK106829NIDDK NIH HHS U54 DK110805NIH HHS S10 OD018522
Abstract
Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. Statistical fine-mapping at this locus pointed to RBPMS at this locus and excluded nearby GTF2E2. Using zebrafish morpholino to evaluate loss of function, we observed a strong in vivo erythropoietic effect for RBPMS but not for GTF2E2, supporting the statistical fine-mapping at this locus and demonstrating that RBPMS is a regulator of erythropoiesis. Our findings show the utility of trans-ethnic GWASs for discovery and characterization of genetic loci influencing hematologic traits.
Indexed as
AfricaAllelesAnimalsAsia, EasternBayes TheoremErythrocytesErythropoiesisEthnicityEuropeFemaleGenome-Wide Association StudyHumansLinkage DisequilibriumMaleRacial GroupsRNA-Binding ProteinsRBPMS protein, humanRNA-Binding Proteins
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