Seventy-five genetic loci influencing the human red blood cell

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van der Harst, Pim (author)

Seventy-five genetic loci influencing the human red blood cell

Article/chapterEnglish2012

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2012-12-05
Springer Science and Business Media LLC,2012

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LIBRIS-ID:oai:lup.lub.lu.se:06878129-f8e8-467a-9157-70455386518a
https://lup.lub.lu.se/record/3366396URI
https://doi.org/10.1038/nature11677DOI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

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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.

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Zhang, Weihua (author)
Leach, Irene Mateo (author)
Rendon, Augusto (author)
Verweij, Niek (author)
Sehmi, Joban (author)
Paul, Dirk S. (author)
Elling, Ulrich (author)
Allayee, Hooman (author)
Li, Xinzhong (author)
Radhakrishnan, Aparna (author)
Tan, Sian-Tsung (author)
Voss, Katrin (author)
Weichenberger, Christian X. (author)
Albers, Cornelis A. (author)
Al-Hussani, Abtehale (author)
Asselbergs, Folkert W. (author)
Ciullo, Marina (author)
Danjou, Fabrice (author)
Dina, Christian (author)
Esko, Tonu (author)
Evans, David M. (author)
Franke, Lude (author)
Goegele, Martin (author)
Hartiala, Jaana (author)
Hersch, Micha (author)
Holm, Hilma (author)
Hottenga, Jouke-Jan (author)
Kanoni, Stavroula (author)
Kleber, Marcus E. (author)
Lagou, Vasiliki (author)
Langenberg, Claudia (author)
Lopez, Lorna M. (author)
Lyytikainen, Leo-Pekka (author)
Melander, OlleLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome (author)
Murgia, Federico (author)
Nolte, Ilja M. (author)
O'Reilly, Paul F. (author)
Padmanabhan, Sandosh (author)
Parsa, Afshin (author)
Pirastu, Nicola (author)
Porcu, Eleonora (author)
Portas, Laura (author)
Prokopenko, Inga (author)
Ried, Janina S. (author)
Shin, So-Youn (author)
Tang, Clara S. (author)
Teumer, Alexander (author)
Traglia, Michela (author)
Ulivi, Sheila (author)
Westra, Harm-Jan (author)
Yang, Jian (author)
Zhao, Jing Hua (author)
Anni, Franco (author)
Abdellaoui, Abdel (author)
Attwood, Antony (author)
Balkau, Beverley (author)
Bandinelli, Stefania (author)
Bastardot, Francois (author)
Benyamin, Beben (author)
Boehm, Bernhard O. (author)
Cookson, William O. (author)
Das, Debashish (author)
de Bakker, Paul I. W. (author)
de Boer, Rudolf A. (author)
de Geus, Eco J. C. (author)
de Moor, Marleen H. (author)
Dimitriou, Maria (author)
Domingues, Francisco S. (author)
Doering, Angela (author)
Engström, GunnarLund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups(Swepub:lu)smi-gen (author)
Eyjolfsson, Gudmundur Ingi (author)
Ferrucci, Luigi (author)
Fischer, Krista (author)
Galanello, Renzo (author)
Garner, Stephen F. (author)
Genser, Bernd (author)
Gibson, Quince D. (author)
Girotto, Giorgia (author)
Gudbjartsson, Daniel Fannar (author)
Harris, Sarah E. (author)
Hartikainen, Anna-Liisa (author)
Hastie, Claire E. (author)
Hedblad, BoLund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups(Swepub:lu)medf-bhe (author)
Illig, Thomas (author)
Jolley, Jennifer (author)
Kahonen, Mika (author)
Kema, Ido P. (author)
Kemp, John P. (author)
Liang, Liming (author)
Lloyd-Jones, Heather (author)
Loos, Ruth J. F. (author)
Meacham, Stuart (author)
Medland, Sarah E. (author)
Meisinger, Christa (author)
Memari, Yasin (author)
Mihailov, Evelin (author)
Miller, Kathy (author)
Moffatt, Miriam F. (author)
Nauck, Matthias (author)
Novatchkova, Maria (author)
Nutile, Teresa (author)
Olafsson, Isleifur (author)
Onundarson, Pall T. (author)
Parracciani, Debora (author)
Penninx, Brenda W. (author)
Perseu, Lucia (author)
Piga, Antonio (author)
Pistis, Giorgio (author)
Pouta, Anneli (author)
Puc, Ursula (author)
Raitakari, Olli (author)
Ring, Susan M. (author)
Robino, Antonietta (author)
Ruggiero, Daniela (author)
Ruokonen, Aimo (author)
Saint-Pierre, Aude (author)
Sala, Cinzia (author)
Salumets, Andres (author)
Sambrook, Jennifer (author)
Schepers, Hein (author)
Schmidt, Carsten Oliver (author)
Sillje, Herman H. W. (author)
Sladek, Rob (author)
Smit, Johannes H. (author)
Starr, John M. (author)
Stephens, Jonathan (author)
Sulem, Patrick (author)
Tanaka, Toshiko (author)
Thorsteinsdottir, Unnur (author)
Tragante, Vinicius (author)
van Gilst, Wiek H. (author)
van Pelt, L. Joost (author)
van Veldhuisen, Dirk J. (author)
Voelker, Uwe (author)
Whitfield, John B. (author)
Willemsen, Gonneke (author)
Winkelmann, Bernhard R. (author)
Wirnsberger, Gerald (author)
Algra, Ale (author)
Cucca, Francesco (author)
d'Adamo, Adamo Pio (author)
Danesh, John (author)
Deary, Ian J. (author)
Dominiczak, Anna F. (author)
Elliott, Paul (author)
Fortina, Paolo (author)
Froguel, Philippe (author)
Gasparini, Paolo (author)
Greinacher, Andreas (author)
Hazen, Stanley L. (author)
Jarvelin, Marjo-Riitta (author)
Khaw, Kay Tee (author)
Lehtimaki, Terho (author)
Maerz, Winfried (author)
Martin, Nicholas G. (author)
Metspalu, Andres (author)
Mitchell, Braxton D. (author)
Montgomery, Grant W. (author)
Moore, Carmel (author)
Navis, Gerjan (author)
Pirastu, Mario (author)
Pramstaller, Peter P. (author)
Ramirez-Solis, Ramiro (author)
Schadt, Eric (author)
Scott, James (author)
Shuldiner, Alan R. (author)
Smith, George Davey (author)
Smith, GustavLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)med-gvs (author)
Snieder, Harold (author)
Sorice, Rossella (author)
Spector, Tim D. (author)
Stefansson, Kari (author)
Stumvoll, Michael (author)
Tang, W. H. Wilson (author)
Toniolo, Daniela (author)
Toenjes, Anke (author)
Visscher, Peter M. (author)
Vollenweider, Peter (author)
Wareham, Nicholas J. (author)
Wolffenbuttel, Bruce H. R. (author)
Boomsma, Dorret I. (author)
Beckmann, Jacques S. (author)
Dedoussis, George V. (author)
Deloukas, Panos (author)
Ferreira, Manuel A. (author)
Sanna, Serena (author)
Uda, Manuela (author)
Hicks, Andrew A. (author)
Penninger, Josef Martin (author)
Gieger, Christian (author)
Kooner, Jaspal S. (author)
Ouwehand, Willem H. (author)
Soranzo, Nicole (author)
Chambers, John C. (author)
Kardiovaskulär forskning - hypertoniForskargrupper vid Lunds universitet (creator_code:org_t)

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In:Nature: Springer Science and Business Media LLC492:7429, s. 369-3750028-08361476-4687

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By the author/editor: van der Harst, P ...; Zhang, Weihua; Leach, Irene Mat ...; Rendon, Augusto; Verweij, Niek; Sehmi, Joban; show more...; Paul, Dirk S.; Elling, Ulrich; Allayee, Hooman; Li, Xinzhong; Radhakrishnan, A ...; Tan, Sian-Tsung; Voss, Katrin; Weichenberger, C ...; Albers, Cornelis ...; Al-Hussani, Abte ...; Asselbergs, Folk ...; Ciullo, Marina; Danjou, Fabrice; Dina, Christian; Esko, Tonu; Evans, David M.; Franke, Lude; Goegele, Martin; Hartiala, Jaana; Hersch, Micha; Holm, Hilma; Hottenga, Jouke- ...; Kanoni, Stavroul ...; Kleber, Marcus E ...; Lagou, Vasiliki; Langenberg, Clau ...; Lopez, Lorna M.; Lyytikainen, Leo ...; Melander, Olle; Murgia, Federico; Nolte, Ilja M.; O'Reilly, Paul F ...; Padmanabhan, San ...; Parsa, Afshin; Pirastu, Nicola; Porcu, Eleonora; Portas, Laura; Prokopenko, Inga; Ried, Janina S.; Shin, So-Youn; Tang, Clara S.; Teumer, Alexande ...; Traglia, Michela; Ulivi, Sheila; Westra, Harm-Jan; Yang, Jian; Zhao, Jing Hua; Anni, Franco; Abdellaoui, Abde ...; Attwood, Antony; Balkau, Beverley; Bandinelli, Stef ...; Bastardot, Franc ...; Benyamin, Beben; Boehm, Bernhard ...; Cookson, William ...; Das, Debashish; de Bakker, Paul ...; de Boer, Rudolf ...; de Geus, Eco J. ...; de Moor, Marleen ...; Dimitriou, Maria; Domingues, Franc ...; Doering, Angela; Engström, Gunnar; Eyjolfsson, Gudm ...; Ferrucci, Luigi; Fischer, Krista; Galanello, Renzo; Garner, Stephen ...; Genser, Bernd; Gibson, Quince D ...; Girotto, Giorgia; Gudbjartsson, Da ...; Harris, Sarah E.; Hartikainen, Ann ...; Hastie, Claire E ...; Hedblad, Bo; Illig, Thomas; Jolley, Jennifer; Kahonen, Mika; Kema, Ido P.; Kemp, John P.; Liang, Liming; Lloyd-Jones, Hea ...; Loos, Ruth J. F.; Meacham, Stuart; Medland, Sarah E ...; Meisinger, Chris ...; Memari, Yasin; Mihailov, Evelin; Miller, Kathy; Moffatt, Miriam ...; Nauck, Matthias; Novatchkova, Mar ...; Nutile, Teresa; Olafsson, Isleif ...; Onundarson, Pall ...; Parracciani, Deb ...; Penninx, Brenda ...; Perseu, Lucia; Piga, Antonio; Pistis, Giorgio; Pouta, Anneli; Puc, Ursula; Raitakari, Olli; Ring, Susan M.; Robino, Antoniet ...; Ruggiero, Daniel ...; Ruokonen, Aimo; Saint-Pierre, Au ...; Sala, Cinzia; Salumets, Andres; Sambrook, Jennif ...; Schepers, Hein; Schmidt, Carsten ...; Sillje, Herman H ...; Sladek, Rob; Smit, Johannes H ...; Starr, John M.; Stephens, Jonath ...; Sulem, Patrick; Tanaka, Toshiko; Thorsteinsdottir ...; Tragante, Vinici ...; van Gilst, Wiek ...; van Pelt, L. Joo ...; van Veldhuisen, ...; Voelker, Uwe; Whitfield, John ...; Willemsen, Gonne ...; Winkelmann, Bern ...; Wirnsberger, Ger ...; Algra, Ale; Cucca, Francesco; d'Adamo, Adamo P ...; Danesh, John; Deary, Ian J.; Dominiczak, Anna ...; Elliott, Paul; Fortina, Paolo; Froguel, Philipp ...; Gasparini, Paolo; Greinacher, Andr ...; Hazen, Stanley L ...; Jarvelin, Marjo- ...; Khaw, Kay Tee; Lehtimaki, Terho; Maerz, Winfried; Martin, Nicholas ...; Metspalu, Andres; Mitchell, Braxto ...; Montgomery, Gran ...; Moore, Carmel; Navis, Gerjan; Pirastu, Mario; Pramstaller, Pet ...; Ramirez-Solis, R ...; Schadt, Eric; Scott, James; Shuldiner, Alan ...; Smith, George Da ...; Smith, Gustav; Snieder, Harold; Sorice, Rossella; Spector, Tim D.; Stefansson, Kari; Stumvoll, Michae ...; Tang, W. H. Wils ...; Toniolo, Daniela; Toenjes, Anke; Visscher, Peter ...; Vollenweider, Pe ...; Wareham, Nichola ...; Wolffenbuttel, B ...; Boomsma, Dorret ...; Beckmann, Jacque ...; Dedoussis, Georg ...; Deloukas, Panos; Ferreira, Manuel ...; Sanna, Serena; Uda, Manuela; Hicks, Andrew A.; Penninger, Josef ...; Gieger, Christia ...; Kooner, Jaspal S ...; Ouwehand, Willem ...; Soranzo, Nicole; Chambers, John C ...; show less...

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