Seventy-five genetic loci influencing the human red blood cell

van der Harst, Pim, Zhang, Weihua, Leach, Irene Mateo, 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, Tonu, Evans, David M., Franke, Lude, Goegele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikainen, 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, Francois, 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., Doering, Angela, Engstrom, 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, Kahonen, 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, Sillje, 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., Voelker, 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, Lehtimaki, 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, Toenjes, 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 and Chambers, John C. (2012) Seventy-five genetic loci influencing the human red blood cell. Nature, 492 7429: 369-375. doi:10.1038/nature11677


Author van der Harst, Pim
Zhang, Weihua
Leach, Irene Mateo
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, Tonu
Evans, David M.
Franke, Lude
Goegele, Martin
Hartiala, Jaana
Hersch, Micha
Holm, Hilma
Hottenga, Jouke-Jan
Kanoni, Stavroula
Kleber, Marcus E.
Lagou, Vasiliki
Langenberg, Claudia
Lopez, Lorna M.
Lyytikainen, 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, Francois
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.
Doering, Angela
Engstrom, 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
Kahonen, 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
Sillje, 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.
Voelker, 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
Lehtimaki, 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
Toenjes, 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.
Total Author Count Override 195
Title Seventy-five genetic loci influencing the human red blood cell
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
1476-4687
Publication date 2012-12
Sub-type Article (original research)
DOI 10.1038/nature11677
Volume 492
Issue 7429
Start page 369
End page 375
Total pages 9
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2013
Language eng
Formatted abstract
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
Keyword Genomewide association
Hemoglobin Levels
Common Variants
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2013 Collection
UQ Diamantina Institute Publications
 
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