التفاصيل البيبلوغرافية
| العنوان: |
Seventy-five genetic loci influencing the human red blood cell. |
| المؤلفون: |
van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S, Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X, Albers, Cornelis A, Al-Hussani, Abtehale, Asselbergs, Folkert W, Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M, Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E, Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M, Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M, O'Reilly, Paul F, Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S, Shin, So-Youn, Tang, Clara S, Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Zhao, Jing Hua, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O, Cookson, William O, Das, Debashish, de Bakker, Paul I W, de Boer, Rudolf A, de Geus, Eco J C, de Moor, Marleen H, Dimitriou, Maria, Domingues, Francisco S, Döring, Angela, Engström, Gunnar, Eyjolfsson, Gudmundur Ingi, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F, Genser, Bernd, Gibson, Quince D, Girotto, Giorgia, Gudbjartsson, Daniel Fannar, Harris, Sarah E, Hartikainen, Anna-Liisa, Hastie, Claire E, Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P, Kemp, John P, Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J F, Meacham, Stuart, Medland, Sarah E, Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F, Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T, Parracciani, Debora, Penninx, Brenda W, Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M, Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Schmidt, Carsten Oliver, Silljé, Herman H W, Sladek, Rob, Smit, Johannes H, Starr, John M, Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H, van Pelt, L Joost, van Veldhuisen, Dirk J, Völker, Uwe, Whitfield, John B, Willemsen, Gonneke, Winkelmann, Bernhard R, Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, d'Adamo, Adamo Pio, Danesh, John, Deary, Ian J, Dominiczak, Anna F, Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L, Jarvelin, Marjo-Riitta, Khaw, Kay Tee, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G, Metspalu, Andres, Mitchell, Braxton D, Montgomery, Grant W, Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P, Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R, Smith, George Davey, Smith, J Gustav, Snieder, Harold, Sorice, Rossella, Spector, Tim D, Stefansson, Kari, Stumvoll, Michael, Tang, W H Wilson, Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M, Vollenweider, Peter, Wareham, Nicholas J, Wolffenbuttel, Bruce H R, Boomsma, Dorret I, Beckmann, Jacques S, Dedoussis, George V, Deloukas, Panos, Ferreira, Manuel A, Sanna, Serena, Uda, Manuela, Hicks, Andrew A, Penninger, Josef Martin, Gieger, Christian, Kooner, Jaspal S, Ouwehand, Willem H, Soranzo, Nicole, Chambers, John C |
| المساهمون: |
Department of Cardiology, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands. |
| بيانات النشر: |
Nature Publishing Group |
| سنة النشر: |
2013 |
| المجموعة: |
Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: |
Animals, Cell Cycle, Cytokines, Drosophila melanogaster, Erythrocytes, Female, Gene Expression Regulation, Genetic Loci, Genome-Wide Association Study, Hematopoiesis, Hemoglobins, Humans, Male, Mice, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, RNA Interference, Signal Transduction |
| الوصف: |
To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field. ; Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| تدمد: |
1476-4687 |
| العلاقة: |
http://dx.doi.org/10.1038/nature11677Test; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3623669Test/; http://www.nature.com/nature/journal/v492/n7429/full/nature11677.htmlTest; Nature 2012, 492(7429):369-75; http://hdl.handle.net/2336/301997Test; Nature |
| DOI: |
10.1038/nature11677 |
| الإتاحة: |
https://doi.org/10.1038/nature11677Test
http://hdl.handle.net/2336/301997Test |
| حقوق: |
Archived with thanks to Nature ; Open Access - Opinn aðgangur |
| رقم الانضمام: |
edsbas.F329098D |
| قاعدة البيانات: |
BASE |
