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 |
| المصدر: |
van der Harst , P , Zhang , W , Mateo Leach , I , Rendon , A , Verweij , N , Sehmi , J , Paul , D S , Elling , U , Allayee , H , Li , X , Radhakrishnan , A , Tan , S-T , Voss , K , Weichenberger , C X , Albers , C A , Al-Hussani , A , Asselbergs , F W , Ciullo , M , Danjou , F , Dina , C , Esko , T , Evans , D M , Franke , L .... |
| سنة النشر: |
2012 |
| المجموعة: |
University of Groningen research database |
| مصطلحات موضوعية: |
GENOME-WIDE ASSOCIATION, HEMOGLOBIN LEVELS, COMMON VARIANTS, EXPRESSION, DISEASE, PROTEIN, TRAITS, CONSORTIUM, DROSOPHILA, RECEPTOR |
| الوصف: |
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 |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
https://research.rug.nl/en/publications/8ec98ead-3ff9-4269-b980-c1cec2cb2a67Test |
| DOI: |
10.1038/nature11677 |
| الإتاحة: |
https://doi.org/10.1038/nature11677Test
https://hdl.handle.net/11370/8ec98ead-3ff9-4269-b980-c1cec2cb2a67Test
https://research.rug.nl/en/publications/8ec98ead-3ff9-4269-b980-c1cec2cb2a67Test
https://pure.rug.nl/ws/files/2413489/van_der_Harst_2012_Nature.pdfTest |
| حقوق: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.C60D620D |
| قاعدة البيانات: |
BASE |
