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Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
van Rooij, Frank J A; Qayyum, Rehan; Smith, Albert V; Zhou, Yi; Trompet, Stella; Tanaka, Toshiko; Keller, Margaux F; Chang, Li-Ching; Schmidt, Helena; Yang, Min-Lee; Chen, Ming-Huei; Hayes, James; Johnson, Andrew D; Yanek, Lisa R; Mueller, Christian; Lange, Leslie; Floyd, James S; Ghanbari, Mohsen; Zonderman, Alan B; Jukema, J Wouter; Hofman, Albert; van Duijn, Cornelia M; Desch, Karl C; Saba, Yasaman; Ozel, Ayse B; Snively, Beverly M; Wu, Jer-Yuarn; Schmidt, Reinhold; Fornage, Myriam; Klein, Robert J; Fox, Caroline S; Matsuda, Koichi; Kamatani, Naoyuki; Wild, Philipp S; Stott, David J; Ford, Ian; Slagboom, P Eline; Yang, Jaden; Chu, Audrey Y; Lambert, Amy J; Uitterlinden, André G; Franco, Oscar H; Hofer, Edith; Ginsburg, David; Hu, Bella; Keating, Brendan; Schick, Ursula M; Brody, Jennifer A; Li, Jun Z; Chen, Zhao.
Afiliação
  • van Rooij FJA; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
  • Qayyum R; GeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Smith AV; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland; Icelandic Heart Association, 210 Kopavogur, Iceland.
  • Zhou Y; Harvard 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 Medi
  • Trompet S; Department 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.
  • Tanaka T; National Institute on Aging, NIH, Baltimore, MD 21224, USA.
  • Keller MF; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Chang LC; Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
  • Schmidt H; Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, 8010 Graz, Austria.
  • Yang ML; Division of Cardiovascular Medicine, Department of Internal Medicine, Department of Human Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA.
  • Chen MH; Department 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.
  • Hayes J; Icahn Institute for Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Johnson AD; Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
  • Yanek LR; GeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Mueller C; Department 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.
  • Lange L; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
  • Floyd JS; Department of Medicine, University of Washington, Seattle, WA 98195-6420, USA.
  • Ghanbari M; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Genetics, School of Medicine, Mashhad University of Medical Sciences, 91375-345 Mashhad, Iran.
  • Zonderman AB; National Institute on Aging, NIH, Bethesda, MD 20892-9205, USA.
  • Jukema JW; Department of Cardiology, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
  • Hofman A; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
  • van Duijn CM; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
  • Desch KC; University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Saba Y; Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, 8010 Graz, Austria.
  • Ozel AB; University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Snively BM; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
  • Wu JY; Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; School of Chinese Medicine, China Medical University, Taichung 40402, Taiwan.
  • Schmidt R; Clinical Division of Neurogeriatrics, Department of Neurology, Medical University Graz, 8010 Graz, Austria.
  • Fornage M; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
  • Klein RJ; Icahn Institute for Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Fox CS; Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Framingham, MA 01702, USA.
  • Matsuda K; Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
  • Kamatani N; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
  • Wild PS; Center 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
  • Stott DJ; Institute of Cardiovascular and Medical Sciences, Faculty of Medicine, University of Glasgow, Glasgow G12 8QQ, UK.
  • Ford I; Robertson Center for Biostatistics, University of Glasgow, Glasgow G12 8QQ, UK.
  • Slagboom PE; Department of Medical Statistics and Bioinformatics, Section of Molecular Epidemiology, Leiden University Medical Center, 2300 AC Leiden, the Netherlands.
  • Yang J; Quantitative Sciences Unit, School of Medicine, Stanford University, Stanford, CA 94304, USA.
  • Chu AY; Division of Preventive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02215, USA.
  • Lambert AJ; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Uitterlinden AG; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
  • Franco OH; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
  • Hofer E; Clinical 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.
  • Ginsburg D; University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Hu B; Harvard 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 Medi
  • Keating B; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Schick UM; Public 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.
  • Brody JA; Department of Medicine, University of Washington, Seattle, WA 98195-6420, USA.
  • Li JZ; University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Chen Z; Department of Epidemiology and Biostatistics, Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson, AZ 85724, USA.
Am J Hum Genet ; 100(1): 51-63, 2017 Jan 05.
Article em En | MEDLINE | ID: mdl-28017375
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Grupos Raciais / Eritrócitos / Eritropoese Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Animals / Female / Humans / Male País/Região como assunto: Africa / Asia / Europa Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Grupos Raciais / Eritrócitos / Eritropoese Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Animals / Female / Humans / Male País/Região como assunto: Africa / Asia / Europa Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda