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Sökning: onr:"swepub:oai:DiVA.org:uu-303127" > Exome Genotyping Id...

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Chami, Nathalie (författare)
Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada.;Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.,University Of Quebec In Montreal,Montreal Heart Institute
Chen, Ming-Huei (författare)
NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA.,National Heart Lung and Blood Institute
Slater, Andrew J. (författare)
GlaxoSmithKline, Genet Target Sci, Res Triangle Pk, Res Triangle Pk, NC 27709 USA.;OmicSoft Corp, Cary, NC 27513 USA.,Omicsoft Corporation
visa fler...
Eicher, John D. (författare)
NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA.,National Heart Lung and Blood Institute
Evangelou, Evangelos (författare)
Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England.;Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, Ioannina 45110, Greece.,Imperial College London,University of Ioannina
Tajuddin, Salman M. (författare)
NIA, Lab Epidemiol & Populat Sci, Baltimore, MD 21224 USA.,National Institute on Aging, United States
Love-Gregory, Latisha (författare)
Washington Univ, Sch Med, Dept Med, Ctr Human Nutr, St Louis, MO 63110 USA.,Washington University in St. Louis
Kacprowski, Tim (författare)
Ernst Moritz Arndt Univ Greifswald, Dept Funct Gen, Interfaculty Inst Genet & Funct Gen, Univ Med, D-17475 Greifswald, Germany.;DZHK German Ctr Cardiovasc Res, Partner Site Greifswald, Greifswald, Germany.,German Centre for Cardiovascular Research,University of Greifswald
Schick, Ursula M. (författare)
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA.,Icahn School of Medicine at Mount Sinai
Nomura, Akihiro (författare)
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA.;Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Harvard Med Sch, Dept Med, Boston, MA 02115 USA.;Kanazawa Univ, Grad Sch Med Sci, Div Cardiovasc Med, Kanazawa, Ishikawa 9200942, Japan.,Kanazawa University,Harvard University,Massachusetts General Hospital,Broad Institute
Giri, Ayush (författare)
Vanderbilt Univ, Inst Med & Publ Hlth, Vanderbilt Genet Inst, Div Epidemiol, Nashville, TN 37235 USA.,Vanderbilt University
Lessard, Samuel (författare)
Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada.;Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.,University Of Quebec In Montreal,Montreal Heart Institute
Brody, Jennifer A. (författare)
Univ Washington, Dept Med, Seattle, WA 98101 USA.,Vanderbilt University
Schurmann, Claudia (författare)
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10069 USA.,Icahn School of Medicine at Mount Sinai
Pankratz, Nathan (författare)
Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55454 USA.,University of Minnesota
Yanek, Lisa R. (författare)
Johns Hopkins Univ, Sch Med, Dept Med Div Gen Internal Med icine, Div Gen Internal Med, Baltimore, MD 21205 USA.,Johns Hopkins University
Manichaikul, Ani (författare)
Univ Virginia, Ctr Publ Hlth Gen, Charlottesville, VA 22908 USA.,University of Virginia
Pazoki, Raha (författare)
Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands.,Erasmus University Medical Center
Mihailov, Evelin (författare)
Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.,University of Tartu
Hill, W. David (författare)
Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.,University of Edinburgh
Raffield, Laura M. (författare)
Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA.,University of North Carolina
Burt, Amber (författare)
Univ Washington, Div Med Genet, Dept Med, Seattle, WA 98195 USA.,University of Washington
Bartz, Traci M. (författare)
Univ Washington, Dept Biostat, Seattle, WA 98195 USA.,University of Washington
Becker, Diane M. (författare)
Johns Hopkins Univ, Sch Med, Dept Med Div Gen Internal Med icine, Div Gen Internal Med, Baltimore, MD 21205 USA.,Johns Hopkins University
Becker, Lewis C. (författare)
Johns Hopkins Univ Sch Med, Dept Med, Div Cardiol & Gen Internal Med, Baltimore, MD 21205 USA.,Johns Hopkins University
Boerwinkle, Eric (författare)
Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA.;Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.,University of Texas,Baylor College of Medicine
Bork-Jensen, Jette (författare)
Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metabol Res, DK-2100 Copenhagen, Denmark.,University of Copenhagen
Bottinger, Erwin P. (författare)
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA.,Icahn School of Medicine at Mount Sinai
O'Donoghue, Michelle L. (författare)
Brigham & Womens Hosp, Cardiovasc Div, TIMI Study Grp, Boston, MA 02115 USA.,Brigham and Women's Hospital / Harvard Medical School
Crosslin, David R. (författare)
Univ Washington, Dept Biomed Informat & Med Educ, Seattle, WA 98195 USA.,University of Washington
de Denus, Simon (författare)
Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.;Univ Montreal, Fac Pharm, Montreal, PQ H3T 1J4, Canada.,Montreal Heart Institute,University Of Quebec In Montreal
Dube, Marie-Pierre (författare)
Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada.;Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.,University Of Quebec In Montreal,Montreal Heart Institute
Elliott, Paul (författare)
Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England.,Imperial College London
Engström, Gunnar (författare)
Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups,Skåne University Hospital
Evans, Michele K. (författare)
NIA, Lab Epidemiol & Populat Sci, Baltimore, MD 21224 USA.,National Institute on Aging, United States
Floyd, James S. (författare)
Univ Washington, Dept Med, Seattle, WA 98101 USA.,University of Washington
Fornage, Myriam (författare)
Univ Texas Hlth Sci Ctr, Inst Mol Med, Houston, TX 77030 USA.,University of Texas
Gao, He (författare)
Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England.,Imperial College London
Greinacher, Andreas (författare)
Univ Med Greifswald, Inst Immunol & Transfus Med, D-17475 Greifswald, Germany.,University of Greifswald
Gudnason, Vilmundur (författare)
Iceland Heart Assoc, IS-201 Kopavogur, Iceland.;Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland.,Icelandic Heart Association,University of Iceland
Hansen, Torben (författare)
Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metabol Res, DK-2100 Copenhagen, Denmark.,University of Copenhagen
Harris, Tamara B. (författare)
NIA, Intramural Res Program, NIH, Lab Epidemiol Demog & Biometry, Bethesda, MD 20892 USA.,National Institute on Aging, United States
Hayward, Caroline (författare)
Univ Edinburgh, MRC Human Genet Unit, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland.,University of Edinburgh
Hernesniemi, Jussi (författare)
Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland.;Univ Tampere, Sch Med, Tampere 33014, Finland.,University of Tampere,Fimlab Laboratories
Highland, Heather M. (författare)
Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA.;Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27514 USA.,University of Texas,University of North Carolina
Hirschhorn, Joel N. (författare)
Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Boston Childrens Hosp, Dept Endocrinol, Boston, MA 02115 USA.,Boston Children's Hospital,Broad Institute
Hofman, Albert (författare)
Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.,Erasmus University Medical Center,Harvard University
Irvin, Marguerite R. (författare)
Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35233 USA.,University of Alabama
Kahonen, Mika (författare)
Tampere Univ Hosp, Dept Clin Physiol, Tampere 33521, Finland.;Univ Tampere, Dept Clin Physiol, Sch Med, Tampere 33014, Finland.,Tampere University Hospital,University of Tampere
Lange, Ethan (författare)
Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.,University of North Carolina
Launer, Lenore J. (författare)
NIA, Intramural Res Program, NIH, Lab Epidemiol Demog & Biometry, Bethesda, MD 20892 USA.,National Institute on Aging, United States
Lehtimaki, Terho (författare)
Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland.,University of Tampere,Fimlab Laboratories
Li, Jin (författare)
Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Palo Alto, CA 94305 USA.,Stanford University
Liewald, David C. M. (författare)
Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.,University of Edinburgh,University of Vermont
Linneberg, Allan (författare)
Capital Region Denmark, Res Ctr Prevent & Hlth, DK-2600 Copenhagen, Denmark.;Rigshosp, Dept Clin Expt Res, DK-2100 Glostrup, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, DK-2200 Copenhagen, Denmark.,University of Copenhagen,Copenhagen University Hospital
Liu, Yongmei (författare)
Wake Forest Sch Med, Div Publ Hlth Sci, Ctr Human Genet, Winston Salem, NC 27157 USA.,Wake Forest University
Lu, Yingchang (författare)
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10069 USA.,Icahn School of Medicine at Mount Sinai
Lyytikainen, Leo-Pekka (författare)
Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland.,University of Tampere,Fimlab Laboratories
Magi, Reedik (författare)
Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.,University of Tartu
Mathias, Rasika A. (författare)
Johns Hopkins Univ Sch Med, Dept Med, Div Allergy & Clin Immunol, Baltimore, MD 21205 USA.;Johns Hopkins Univ Sch Med, Div Gen Internal Med, Baltimore, MD 21205 USA.,Johns Hopkins University
Melander, Olle (författare)
Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups,Skåne University Hospital
Metspalu, Andres (författare)
Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.,University of Tartu
Mononen, Nina (författare)
Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland.,Fimlab Laboratories,University of Tampere
Nalls, Mike A. (författare)
NIA, NIH, Neurogenet Lab, Bethesda, MD 20892 USA.,National Institute on Aging, United States
Nickerson, Deborah A. (författare)
Univ Washington, Dept Genome Sci, Seattle, WA 98105 USA.,University of Washington
Nikus, Kjell (författare)
Univ Tampere, Sch Med, Tampere 33014, Finland.;Tampere Univ Hosp, Dept Cardiol, Ctr Heart, Tampere 33521, Finland.,University of Tampere,Tampere University Hospital
O'Donnell, Chris J. (författare)
NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA.;Boston Vet Adm VA Healthcare, Cardiol Sect, Boston, MA 02118 USA.;Boston Vet Adm VA Healthcare, Ctr Populat Gen, Boston, MA 02118 USA.,Boston Veteran's Administration (VA) Healthcare,National Heart Lung and Blood Institute
Orho-Melander, Marju (författare)
Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups,Skåne University Hospital
Pedersen, Oluf (författare)
Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metabol Res, DK-2100 Copenhagen, Denmark.,University of Copenhagen
Petersmann, Astrid (författare)
Univ Med Greifswald, Inst Clin Chem & Lab Med, D-17475 Greifswald, Germany.,University of Greifswald
Polfus, Linda (författare)
Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA.,University of Texas
Psaty, Bruce M. (författare)
Univ Washington, Dept Med Epidemiol & Hlth Serv, Cardiovasc Hlth Res Unit, Seattle, WA 98101 USA.;Grp Hlth Res Inst, Grp Hlth Cooperat, Seattle, WA 98101 USA.,University of Washington,Group Health Cooperative
Raitakari, Olli T. (författare)
Turku Univ Hosp, Dept Clin Physiol & Nucl Med, Turku 20521, Finland.;Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku 20520, Finland.,University of Turku,Turku University Hospital
Raitoharju, Emma (författare)
Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland.,Fimlab Laboratories,University of Tampere
Richard, Melissa (författare)
Univ Texas Hlth Sci Ctr, Inst Mol Med, Houston, TX 77030 USA.,University of Texas
Rice, Kenneth M. (författare)
Univ Washington, Dept Biostat, Seattle, WA 98195 USA.,University of Washington
Rivadeneira, Fernando (författare)
Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands.;Erasmus MC, Dept Internal Med, NL-3000 Rotterdam, Netherlands.;NCHA, NL-3015 Rotterdam, Netherlands.,Netherlands Consortium for Healthy Ageing (NCHA),Erasmus University Medical Center
Rotter, Jerome I. (författare)
Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90502 USA.,University of California, Los Angeles
Schmidt, Frank (författare)
Ernst Moritz Arndt Univ Greifswald, Dept Funct Gen, Interfaculty Inst Genet & Funct Gen, Univ Med, D-17475 Greifswald, Germany.,University of Greifswald
Smith, Albert Vernon (författare)
Iceland Heart Assoc, IS-201 Kopavogur, Iceland.;Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland.,University of Iceland,Icelandic Heart Association
Starr, John M. (författare)
Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Alzheimer Scotland Res Ctr, Edinburgh EH8 9JZ, Midlothian, Scotland.,Alzheimer Scotland Dementia Research Centre,University of Edinburgh
Taylor, Kent D. (författare)
Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90502 USA.,University of California, Los Angeles
Teumer, Alexander (författare)
Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany.,University of Greifswald
Thuesen, Betina H. (författare)
Capital Region Denmark, Res Ctr Prevent & Hlth, DK-2600 Copenhagen, Denmark.,Research Centre for Prevention and Health
Torstenson, Eric S. (författare)
Vanderbilt Univ, Inst Med & Publ Hlth, Vanderbilt Genet Inst, Div Epidemiol, Nashville, TN 37235 USA.,Vanderbilt University
Tracy, Russell P. (författare)
Univ Vermont Coll Med, Dept Pathol, Colchester, VT 05446 USA.;Univ Vermont Coll Med, Dept Lab Med, Colchester, VT 05446 USA.;Univ Vermont Coll Med, Dept Biochem, Colchester, VT 05446 USA.,University of Vermont
Tzoulaki, Ioanna (författare)
Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England.;Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, Ioannina 45110, Greece.,University of Ioannina,Imperial College London
Zakai, Neil A. (författare)
Univ Vermont Coll Med, Dept Med, Burlington, VT 05405 USA.;Univ Vermont Coll Med, Dept Pathol, Burlington, VT 05405 USA.,University of Vermont
Vacchi-Suzzi, Caterina (författare)
SUNY Stony Brook, Dept Family Populat & Prevent Med, Stony Brook, NY 11794 USA.,Stony Brook University
van Duijn, Cornelia M. (författare)
Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands.,Erasmus University Medical Center
van Rooij, Frank J. A. (författare)
Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands.,Erasmus University Medical Center
Cushman, Mary (författare)
Univ Vermont Coll Med, Dept Med, Burlington, VT 05405 USA.;Univ Vermont Coll Med, Dept Pathol, Burlington, VT 05405 USA.
Deary, Ian J. (författare)
Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.,University of Edinburgh
Edwards, Digna R. Velez (författare)
Vanderbilt Univ, Vanderbilt Epidemiol Ctr, Dept Obstet & Gynecol, Inst Med & Publ Hlth,Vanderbilt Genet Inst, Nashville, TN 37203 USA.,Vanderbilt University
Vergnaud, Anne-Claire (författare)
Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England.,Imperial College London
Wallentin, Lars (författare)
Uppsala University,Uppsala universitet,Kardiologi,Uppsala kliniska forskningscentrum (UCR)
Waterworth, Dawn M. (författare)
Genet Target Sci, GlaxoSmithKline, King Of Prussia, PA 19406 USA.
White, Harvey D. (författare)
Auckland City Hosp, Green Lane Cardiovasc Serv, Auckland 1142, New Zealand.;Univ Auckland, Auckland 1142, New Zealand.,University of Auckland
Wilson, James G. (författare)
Univ Mississippi Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA.,University of Mississippi
Zonderman, Alan B. (författare)
NIA, Lab Epidemiol & Populat Sci, Baltimore, MD 21224 USA.,National Institute on Aging, United States
Kathiresan, Sekar (författare)
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA.;Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Harvard Med Sch, Dept Med, Boston, MA 02115 USA.,Harvard University,Massachusetts General Hospital,Broad Institute
Grarup, Niels (författare)
Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metabol Res, DK-2100 Copenhagen, Denmark.,University of Copenhagen
Esko, Tonu (författare)
Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.,University of Tartu,Broad Institute
Loos, Ruth J. F. (författare)
Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10069 USA.;Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10069 USA.,Icahn School of Medicine at Mount Sinai
Lange, Leslie A. (författare)
Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA.,University of North Carolina,University of Wisconsin
Faraday, Nauder (författare)
Johns Hopkins Univ, Sch Med, Dept Anesthesiol & Crit Care Med, Baltimore, MD 21205 USA.,Johns Hopkins University
Abumrad, Nada A. (författare)
Washington Univ, Sch Med, Dept Med, Ctr Human Nutr, St Louis, MO 63110 USA.,Washington University in St. Louis
Edwards, Todd L. (författare)
Vanderbilt Univ, Inst Med & Publ Hlth, Vanderbilt Genet Inst, Div Epidemiol, Nashville, TN 37235 USA.,Vanderbilt University
Ganesh, Santhi K. (författare)
Univ Michigan, Dept Internal Med, Ann Arbor, MI 48108 USA.;Univ Michigan, Dept Human Genet, Ann Arbor, MI 48108 USA.,University of Michigan
Auer, Paul L. (författare)
Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53205 USA.
Johnson, Andrew D. (författare)
NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA.,National Heart Lung and Blood Institute
Reiner, Alexander P. (författare)
Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.;Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA.,Fred Hutchinson Cancer Research Center,University of Washington
Lettre, Guillaume (författare)
Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada.;Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.,Montreal Heart Institute,University Of Quebec In Montreal
visa färre...
Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada;Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada. University Of Quebec In Montreal (creator_code:org_t)
Elsevier BV, 2016
2016
Engelska.
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 99:1, s. 8-21
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 x 10(-10) for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3 x 10(-8) for hematocrit [HCT] and HGB). In African Americans, we identified a nonsense variant in CD36 associated with higher RBC distribution width (rs3211938, MAF = 8.7%, p = 7 x 10(-11)) and showed that it is associated with lower CD36 expression and strong allelic imbalance in ex vivo differentiated human erythroblasts. We also identified a rare missense variant in ALAS2 (rs201062903, MAF = 0.2%) associated with lower mean corpuscular volume and mean corpuscular hemoglobin (p < 8 x 10(-9)). Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria. Gene-based testing highlighted three rare missense variants in PKLR, a gene mutated in Mendelian non-spherocytic hemolytic anemia, associated with HGB and HCT (SKAT p < 8 x 10(-7)). These rare, low-frequency, and common RBC variants showed pleiotropy, being also associated with platelet, white blood cell, and lipid traits. Our association results and functional annotation suggest the involvement of new genes in human erythropoiesis. We also confirm that rare and low-frequency variants play a role in the architecture of complex human traits, although their phenotypic effect is generally smaller than originally anticipated.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Kardiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)

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Chami, Nathalie
Chen, Ming-Huei
Slater, Andrew J ...
Eicher, John D.
Evangelou, Evang ...
Tajuddin, Salman ...
visa fler...
Love-Gregory, La ...
Kacprowski, Tim
Schick, Ursula M ...
Nomura, Akihiro
Giri, Ayush
Lessard, Samuel
Brody, Jennifer ...
Schurmann, Claud ...
Pankratz, Nathan
Yanek, Lisa R.
Manichaikul, Ani
Pazoki, Raha
Mihailov, Evelin
Hill, W. David
Raffield, Laura ...
Burt, Amber
Bartz, Traci M.
Becker, Diane M.
Becker, Lewis C.
Boerwinkle, Eric
Bork-Jensen, Jet ...
Bottinger, Erwin ...
O'Donoghue, Mich ...
Crosslin, David ...
de Denus, Simon
Dube, Marie-Pier ...
Elliott, Paul
Engström, Gunnar
Evans, Michele K ...
Floyd, James S.
Fornage, Myriam
Gao, He
Greinacher, Andr ...
Gudnason, Vilmun ...
Hansen, Torben
Harris, Tamara B ...
Hayward, Carolin ...
Hernesniemi, Jus ...
Highland, Heathe ...
Hirschhorn, Joel ...
Hofman, Albert
Irvin, Marguerit ...
Kahonen, Mika
Lange, Ethan
Launer, Lenore J ...
Lehtimaki, Terho
Li, Jin
Liewald, David C ...
Linneberg, Allan
Liu, Yongmei
Lu, Yingchang
Lyytikainen, Leo ...
Magi, Reedik
Mathias, Rasika ...
Melander, Olle
Metspalu, Andres
Mononen, Nina
Nalls, Mike A.
Nickerson, Debor ...
Nikus, Kjell
O'Donnell, Chris ...
Orho-Melander, M ...
Pedersen, Oluf
Petersmann, Astr ...
Polfus, Linda
Psaty, Bruce M.
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Raitoharju, Emma
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