Sökning: WFRF:(Franke James A) > Seventy-five geneti...
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000 | 10706naa a2202629 4500 | |
001 | oai:lup.lub.lu.se:06878129-f8e8-467a-9157-70455386518a | |
003 | SwePub | |
008 | 160401s2012 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/33663962 URI |
024 | 7 | a https://doi.org/10.1038/nature116772 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a van der Harst, Pim4 aut |
245 | 1 0 | a Seventy-five genetic loci influencing the human red blood cell |
264 | c 2012-12-05 | |
264 | 1 | b Springer Science and Business Media LLC,c 2012 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng |
700 | 1 | a Zhang, Weihua4 aut |
700 | 1 | a Leach, Irene Mateo4 aut |
700 | 1 | a Rendon, Augusto4 aut |
700 | 1 | a Verweij, Niek4 aut |
700 | 1 | a Sehmi, Joban4 aut |
700 | 1 | a Paul, Dirk S.4 aut |
700 | 1 | a Elling, Ulrich4 aut |
700 | 1 | a Allayee, Hooman4 aut |
700 | 1 | a Li, Xinzhong4 aut |
700 | 1 | a Radhakrishnan, Aparna4 aut |
700 | 1 | a Tan, Sian-Tsung4 aut |
700 | 1 | a Voss, Katrin4 aut |
700 | 1 | a Weichenberger, Christian X.4 aut |
700 | 1 | a Albers, Cornelis A.4 aut |
700 | 1 | a Al-Hussani, Abtehale4 aut |
700 | 1 | a Asselbergs, Folkert W.4 aut |
700 | 1 | a Ciullo, Marina4 aut |
700 | 1 | a Danjou, Fabrice4 aut |
700 | 1 | a Dina, Christian4 aut |
700 | 1 | a Esko, Tonu4 aut |
700 | 1 | a Evans, David M.4 aut |
700 | 1 | a Franke, Lude4 aut |
700 | 1 | a Goegele, Martin4 aut |
700 | 1 | a Hartiala, Jaana4 aut |
700 | 1 | a Hersch, Micha4 aut |
700 | 1 | a Holm, Hilma4 aut |
700 | 1 | a Hottenga, Jouke-Jan4 aut |
700 | 1 | a Kanoni, Stavroula4 aut |
700 | 1 | a Kleber, Marcus E.4 aut |
700 | 1 | a Lagou, Vasiliki4 aut |
700 | 1 | a Langenberg, Claudia4 aut |
700 | 1 | a Lopez, Lorna M.4 aut |
700 | 1 | a Lyytikainen, Leo-Pekka4 aut |
700 | 1 | a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome |
700 | 1 | a Murgia, Federico4 aut |
700 | 1 | a Nolte, Ilja M.4 aut |
700 | 1 | a O'Reilly, Paul F.4 aut |
700 | 1 | a Padmanabhan, Sandosh4 aut |
700 | 1 | a Parsa, Afshin4 aut |
700 | 1 | a Pirastu, Nicola4 aut |
700 | 1 | a Porcu, Eleonora4 aut |
700 | 1 | a Portas, Laura4 aut |
700 | 1 | a Prokopenko, Inga4 aut |
700 | 1 | a Ried, Janina S.4 aut |
700 | 1 | a Shin, So-Youn4 aut |
700 | 1 | a Tang, Clara S.4 aut |
700 | 1 | a Teumer, Alexander4 aut |
700 | 1 | a Traglia, Michela4 aut |
700 | 1 | a Ulivi, Sheila4 aut |
700 | 1 | a Westra, Harm-Jan4 aut |
700 | 1 | a Yang, Jian4 aut |
700 | 1 | a Zhao, Jing Hua4 aut |
700 | 1 | a Anni, Franco4 aut |
700 | 1 | a Abdellaoui, Abdel4 aut |
700 | 1 | a Attwood, Antony4 aut |
700 | 1 | a Balkau, Beverley4 aut |
700 | 1 | a Bandinelli, Stefania4 aut |
700 | 1 | a Bastardot, Francois4 aut |
700 | 1 | a Benyamin, Beben4 aut |
700 | 1 | a Boehm, Bernhard O.4 aut |
700 | 1 | a Cookson, William O.4 aut |
700 | 1 | a Das, Debashish4 aut |
700 | 1 | a de Bakker, Paul I. W.4 aut |
700 | 1 | a de Boer, Rudolf A.4 aut |
700 | 1 | a de Geus, Eco J. C.4 aut |
700 | 1 | a de Moor, Marleen H.4 aut |
700 | 1 | a Dimitriou, Maria4 aut |
700 | 1 | a Domingues, Francisco S.4 aut |
700 | 1 | a Doering, Angela4 aut |
700 | 1 | a Engström, Gunnaru Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)smi-gen |
700 | 1 | a Eyjolfsson, Gudmundur Ingi4 aut |
700 | 1 | a Ferrucci, Luigi4 aut |
700 | 1 | a Fischer, Krista4 aut |
700 | 1 | a Galanello, Renzo4 aut |
700 | 1 | a Garner, Stephen F.4 aut |
700 | 1 | a Genser, Bernd4 aut |
700 | 1 | a Gibson, Quince D.4 aut |
700 | 1 | a Girotto, Giorgia4 aut |
700 | 1 | a Gudbjartsson, Daniel Fannar4 aut |
700 | 1 | a Harris, Sarah E.4 aut |
700 | 1 | a Hartikainen, Anna-Liisa4 aut |
700 | 1 | a Hastie, Claire E.4 aut |
700 | 1 | a Hedblad, Bou Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)medf-bhe |
700 | 1 | a Illig, Thomas4 aut |
700 | 1 | a Jolley, Jennifer4 aut |
700 | 1 | a Kahonen, Mika4 aut |
700 | 1 | a Kema, Ido P.4 aut |
700 | 1 | a Kemp, John P.4 aut |
700 | 1 | a Liang, Liming4 aut |
700 | 1 | a Lloyd-Jones, Heather4 aut |
700 | 1 | a Loos, Ruth J. F.4 aut |
700 | 1 | a Meacham, Stuart4 aut |
700 | 1 | a Medland, Sarah E.4 aut |
700 | 1 | a Meisinger, Christa4 aut |
700 | 1 | a Memari, Yasin4 aut |
700 | 1 | a Mihailov, Evelin4 aut |
700 | 1 | a Miller, Kathy4 aut |
700 | 1 | a Moffatt, Miriam F.4 aut |
700 | 1 | a Nauck, Matthias4 aut |
700 | 1 | a Novatchkova, Maria4 aut |
700 | 1 | a Nutile, Teresa4 aut |
700 | 1 | a Olafsson, Isleifur4 aut |
700 | 1 | a Onundarson, Pall T.4 aut |
700 | 1 | a Parracciani, Debora4 aut |
700 | 1 | a Penninx, Brenda W.4 aut |
700 | 1 | a Perseu, Lucia4 aut |
700 | 1 | a Piga, Antonio4 aut |
700 | 1 | a Pistis, Giorgio4 aut |
700 | 1 | a Pouta, Anneli4 aut |
700 | 1 | a Puc, Ursula4 aut |
700 | 1 | a Raitakari, Olli4 aut |
700 | 1 | a Ring, Susan M.4 aut |
700 | 1 | a Robino, Antonietta4 aut |
700 | 1 | a Ruggiero, Daniela4 aut |
700 | 1 | a Ruokonen, Aimo4 aut |
700 | 1 | a Saint-Pierre, Aude4 aut |
700 | 1 | a Sala, Cinzia4 aut |
700 | 1 | a Salumets, Andres4 aut |
700 | 1 | a Sambrook, Jennifer4 aut |
700 | 1 | a Schepers, Hein4 aut |
700 | 1 | a Schmidt, Carsten Oliver4 aut |
700 | 1 | a Sillje, Herman H. W.4 aut |
700 | 1 | a Sladek, Rob4 aut |
700 | 1 | a Smit, Johannes H.4 aut |
700 | 1 | a Starr, John M.4 aut |
700 | 1 | a Stephens, Jonathan4 aut |
700 | 1 | a Sulem, Patrick4 aut |
700 | 1 | a Tanaka, Toshiko4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Tragante, Vinicius4 aut |
700 | 1 | a van Gilst, Wiek H.4 aut |
700 | 1 | a van Pelt, L. Joost4 aut |
700 | 1 | a van Veldhuisen, Dirk J.4 aut |
700 | 1 | a Voelker, Uwe4 aut |
700 | 1 | a Whitfield, John B.4 aut |
700 | 1 | a Willemsen, Gonneke4 aut |
700 | 1 | a Winkelmann, Bernhard R.4 aut |
700 | 1 | a Wirnsberger, Gerald4 aut |
700 | 1 | a Algra, Ale4 aut |
700 | 1 | a Cucca, Francesco4 aut |
700 | 1 | a d'Adamo, Adamo Pio4 aut |
700 | 1 | a Danesh, John4 aut |
700 | 1 | a Deary, Ian J.4 aut |
700 | 1 | a Dominiczak, Anna F.4 aut |
700 | 1 | a Elliott, Paul4 aut |
700 | 1 | a Fortina, Paolo4 aut |
700 | 1 | a Froguel, Philippe4 aut |
700 | 1 | a Gasparini, Paolo4 aut |
700 | 1 | a Greinacher, Andreas4 aut |
700 | 1 | a Hazen, Stanley L.4 aut |
700 | 1 | a Jarvelin, Marjo-Riitta4 aut |
700 | 1 | a Khaw, Kay Tee4 aut |
700 | 1 | a Lehtimaki, Terho4 aut |
700 | 1 | a Maerz, Winfried4 aut |
700 | 1 | a Martin, Nicholas G.4 aut |
700 | 1 | a Metspalu, Andres4 aut |
700 | 1 | a Mitchell, Braxton D.4 aut |
700 | 1 | a Montgomery, Grant W.4 aut |
700 | 1 | a Moore, Carmel4 aut |
700 | 1 | a Navis, Gerjan4 aut |
700 | 1 | a Pirastu, Mario4 aut |
700 | 1 | a Pramstaller, Peter P.4 aut |
700 | 1 | a Ramirez-Solis, Ramiro4 aut |
700 | 1 | a Schadt, Eric4 aut |
700 | 1 | a Scott, James4 aut |
700 | 1 | a Shuldiner, Alan R.4 aut |
700 | 1 | a Smith, George Davey4 aut |
700 | 1 | a Smith, Gustavu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)med-gvs |
700 | 1 | a Snieder, Harold4 aut |
700 | 1 | a Sorice, Rossella4 aut |
700 | 1 | a Spector, Tim D.4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Stumvoll, Michael4 aut |
700 | 1 | a Tang, W. H. Wilson4 aut |
700 | 1 | a Toniolo, Daniela4 aut |
700 | 1 | a Toenjes, Anke4 aut |
700 | 1 | a Visscher, Peter M.4 aut |
700 | 1 | a Vollenweider, Peter4 aut |
700 | 1 | a Wareham, Nicholas J.4 aut |
700 | 1 | a Wolffenbuttel, Bruce H. R.4 aut |
700 | 1 | a Boomsma, Dorret I.4 aut |
700 | 1 | a Beckmann, Jacques S.4 aut |
700 | 1 | a Dedoussis, George V.4 aut |
700 | 1 | a Deloukas, Panos4 aut |
700 | 1 | a Ferreira, Manuel A.4 aut |
700 | 1 | a Sanna, Serena4 aut |
700 | 1 | a Uda, Manuela4 aut |
700 | 1 | a Hicks, Andrew A.4 aut |
700 | 1 | a Penninger, Josef Martin4 aut |
700 | 1 | a Gieger, Christian4 aut |
700 | 1 | a Kooner, Jaspal S.4 aut |
700 | 1 | a Ouwehand, Willem H.4 aut |
700 | 1 | a Soranzo, Nicole4 aut |
700 | 1 | a Chambers, John C.4 aut |
710 | 2 | a Kardiovaskulär forskning - hypertonib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Natured : Springer Science and Business Media LLCg 492:7429, s. 369-375q 492:7429<369-375x 0028-0836x 1476-4687 |
856 | 4 | u http://dx.doi.org/10.1038/nature11677y FULLTEXT |
856 | 4 | u https://serval.unil.ch/resource/serval:BIB_A33D6D054D38.P001/REF.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/3366396 |
856 | 4 8 | u https://doi.org/10.1038/nature11677 |
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