Back to Search
Start Over
Seventy-five genetic loci influencing the human red blood cell
- Source :
- Nature, vol. 492, no. 7429, pp. 369-375, Nature (Lond.) 492 (2012): 369–375. doi:10.1038/nature11677, info:cnr-pdr/source/autori:Pim van der Harst, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Niek Verweij, Joban Sehmi, Dirk S. Paul, Ulrich Elling, Hooman Allayee, Xinzhong Li, Aparna Radhakrishnan, Sian-Tsung Tan, Katrin Voss, Christian X. Weichenberger, Cornelis A. Albers, Abtehale Al-Hussani, Folkert W. Asselbergs, Marina Ciullo, Fabrice Danjou, Christian Dina, Tõnu Esko, David M. Evans, Lude Franke, Martin Gögele, Jaana Hartiala, Micha Hersch, Hilma Holm, Jouke-Jan Hottenga, Stavroula Kanoni, Marcus E. Kleber, Vasiliki Lagou, Claudia Langenberg, Lorna M. Lopez, Leo-Pekka Lyytikäinen, Olle Melander, Federico Murgia, Ilja M. Nolte, Paul F. O'Reilly, Sandosh Padmanabhan, Afshin Parsa, Nicola Pirastu, Eleonora Porcu, Laura Portas, Inga Prokopenko, Janina S. Ried, So-Youn Shin, Clara S. Tang, Alexander Teumer, Michela Traglia, Sheila Ulivi, Harm-Jan Westra, Jian Yang, Jing Hua Zhao, Franco Anni, Abdel Abdellaoui, Antony Attwood, Beverley Balkau, Stefania Bandinelli, François Bastardot, Beben Benyamin, Bernhard O. Boehm, William O. Cookson, Debashish Das, Paul I. W. de Bakker, Rudolf A. de Boer, Eco J. C. de Geus, Marleen H. de Moor, Maria Dimitriou, Francisco S. Domingues, Angela Döring, Gunnar Engström, Gudmundur Ingi Eyjolfsson, Luigi Ferrucci, Krista Fischer, Renzo Galanello, Stephen F. Garner, Bernd Genser, Quince D. Gibson, Giorgia Girotto, Daniel Fannar Gudbjartsson, Sarah E. Harris, Anna-Liisa Hartikainen, Claire E. Hastie, Bo Hedblad, Thomas Illig, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger, Yasin Memari, Evelin Mihailov, Kathy Miller, Miriam F. Moffatt, Matthias Nauck, Maria Novatchkova, Teresa Nutile, Isleifur Olafsson, Pall T. Onundarson, Debora Parracciani, Brenda W. Penninx, Lucia Perseu, Antonio Piga, Giorgio Pistis, Anneli Pouta, Ursula Puc, Olli Raitakari, Susan M. Ring, Antonietta Robino, Daniela Ruggiero, Aimo Ruokonen, Aude Saint-Pierre, Cinzia Sala, Andres Salumets, Jennifer Sambrook, Hein Schepers, Carsten Oliver Schmidt, Herman H. W. Silljé, Rob Sladek, Johannes H. Smit, John M. Starr, Jonathan Stephens, Patrick Sulem, Toshiko Tanaka, Unnur Thorsteinsdottir, Vinicius Tragante, Wiek H. van Gilst, L. Joost van Pelt, Dirk J. van Veldhuisen, Uwe Völker, John B. Whitfield, Gonneke Willemsen, Bernhard R. Winkelmann, Gerald Wirnsberger, Ale Algra, Francesco Cucca, Adamo Pio d'Adamo, John Danesh, Ian J. Deary, Anna F. Dominiczak, Paul Elliott, Paolo Fortina, Philippe Froguel, Paolo Gasparini, Andreas Greinacher, Stanley L. Hazen, Marjo-Riitta Jarvelin, Kay Tee Khaw, Terho Lehtimäki, Winfried Maerz, Nicholas G. Martin, Andres Metspalu, Braxton D. Mitchell, Grant W. Montgomery, Carmel Moore, Gerjan Navis, Mario Pirastu, Peter P. Pramstaller, Ramiro Ramirez-Solis, Eric Schadt, James Scott, Alan R. Shuldiner, George Davey Smith, J. Gustav Smith, Harold Snieder, Rossella Sorice, Tim D. Spector, Kari Stefansson, Michael Stumvoll, W. H. Wilson Tang, Daniela Toniolo, Anke Tönjes, Peter M. Visscher, Peter Vollenweider, Nicholas J. Wareham, Bruce H. R. Wolffenbuttel, Dorret I. Boomsma, Jacques S. Beckmann, George V. Dedoussis, Panos Deloukas, Manuel A. Ferreira, Serena Sanna, Manuela Uda, Andrew A. Hicks, Josef Martin Penninger, Christian Gieger, Jaspal S. Kooner, Willem H. Ouwehand, Nicole Soranzo & John C. Chambers/titolo:Seventy-five genetic loci influencing the human red blood cell/doi:10.1038%2Fnature11677/rivista:Nature (Lond.)/anno:2012/pagina_da:369/pagina_a:375/intervallo_pagine:369–375/volume:492, Nature; Vol 492, 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, Gögele, M, Hartiala, J, Hersch, M, Holm, H, Hottenga, J J, Kanoni, S, Kleber, M E, Lagou, V, Langenberg, C, Lopez, L M, Lyytikäinen, L P, Melander, O, Murgia, F, Nolte, I M, O'Reilly, P F, Padmanabhan, S, Parsa, A, Pirastu, N, Porcu, E, Portas, L, Prokopenko, I, Ried, J S, Shin, S Y, Tang, C S, Teumer, A, Traglia, M, Ulivi, S, Westra, H J, Yang, J, Zhao, J H, Anni, F, Abdellaoui, A, Attwood, A, Balkau, B, Bandinelli, S, Bastardot, F, Benyamin, B, Boehm, B O, Cookson, W O, Das, D, de Bakker, P I, de Boer, R A, de Geus, E J C, de Moor, M H M, Dimitriou, M, Domingues, F S, Döring, A, Engström, G, Eyjolfsson, G I, Ferrucci, L, Fischer, K, Galanello, R, Garner, S F, Genser, B, Gibson, Q D, Girotto, G, Gudbjartsson, D F, Harris, S E, Hartikainen, A L, Hastie, C E, Hedblad, B, Illig, T, Jolley, J, Kähönen, M, Kema, I P, Kemp, J P, Liang, L, Lloyd-Jones, H, Loos, R J, Meacham, S, Medland, S E, Meisinger, C, Memari, Y, Mihailov, E, Miller, K, Moffatt, M F, Nauck, M, Novatchkova, M, Nutile, T, Olafsson, I, Onundarson, P T, Parracciani, D, Penninx, B W J H, Perseu, L, Piga, A, Pisits, G, Pouta, A, Puc, U, Raitakari, O, Ring, S M, Robino, A, Ruggiero, D, Ruokonen, A, Saint-Pierre, A, Sala, C, Salumets, A, Sambrook, J, Schepers, H, Schmidt, C O, Silljé, H H, Sladek, R, Smit, J H, Starr, J M, Stephens, J, Sulem, P, Tanaka, T, Thorsteinsdottir, U, Tragante, V, van Gilst, W H, van Pelt, L J, van Veldhuisen, D J, Völker, U, Whitfield, J B, Willemsen, G, Winkelmann, B R, Wirnsberger, G, Algra, A, Cucca, F, d'Adamo, A P, Danesh, J, Deary, I J, Dominiczak, A F, Elliott, P, Fortina, P, Froguel, P, Gasparini, P, Greinacher, A, Hazen, S L, Jarvelin, M-R, Khaw, K T, Lehtimäki, T, Maerz, W, Martin, N G, Metspalu, A, Mitchell, B D, Montgomery, G W, Moore, C, Navis, G, Pirastu, M, Pramstaller, P P, Ramirez-Solis, R, Schadt, E, Scott, J, Shuldiner, A R, Smith, G D, Smith, J G, Snieder, H, Sorice, R, Spector, T D, Stefansson, K, Stumvoll, M, Tang, W H, Toniolo, D, Tönjes, A, Visscher, P M, Vollenweider, P, Wareham, N J, Wolffenbuttel, B H R, Boomsma, D I, Beckmann, J S, Dedoussis, G V, Deloukas, P, Ferreira, M A, Sanna, S, Uda, M, Hicks, A A, Penninger, J M, Gieger, C, Kooner, J S, Ouwehand, W H, Soranzo, N & Chambers, J C 2012, ' Seventy-five genetic loci influencing the human red blood cell ', Nature, vol. 492, no. 7429, pp. 369-375 . https://doi.org/10.1038/nature11677, Nature, 492(7429), 369, Nature, 492(7429), 369-375. Nature Publishing Group, Nature, Nature, 492, 369-75, Nature, 492, 7429, pp. 369-75
- Publication Year :
- 2012
-
Abstract
- Item does not contain fulltext 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.
- Subjects :
- Male
Netherlands Twin Register (NTR)
Candidate gene
Erythrocytes
PROTEIN
Genome-wide association study
DISEASE
Hemoglobins
Mice
0302 clinical medicine
Genetics
Genomics, blood
0303 health sciences
Multidisciplinary
biology
Cell Cycle
COMMON VARIANTS
Genomics
Phenotype
anemia
3. Good health
Haematopoiesis
DROSOPHILA
Drosophila melanogaster
medicine.anatomical_structure
HEMOGLOBIN LEVELS
Organ Specificity
030220 oncology & carcinogenesis
Cytokines
Female
RNA Interference
TRAITS
Signal Transduction
EXPRESSION
Polymorphism, Single Nucleotide
Article
Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]
03 medical and health sciences
SDG 3 - Good Health and Well-being
Genetic
blood
medicine
Animals
Humans
GENOME-WIDE ASSOCIATION
030304 developmental biology
RECEPTOR
CONSORTIUM
ta3121
hemoglobin
biology.organism_classification
Hematopoiesis
meta-analysis
Red blood cell
Gene Expression Regulation
Genetic Loci
Expression quantitative trait loci
genome-wide association studies
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 00280836
- Database :
- OpenAIRE
- Journal :
- Nature, vol. 492, no. 7429, pp. 369-375, Nature (Lond.) 492 (2012): 369–375. doi:10.1038/nature11677, info:cnr-pdr/source/autori:Pim van der Harst, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Niek Verweij, Joban Sehmi, Dirk S. Paul, Ulrich Elling, Hooman Allayee, Xinzhong Li, Aparna Radhakrishnan, Sian-Tsung Tan, Katrin Voss, Christian X. Weichenberger, Cornelis A. Albers, Abtehale Al-Hussani, Folkert W. Asselbergs, Marina Ciullo, Fabrice Danjou, Christian Dina, Tõnu Esko, David M. Evans, Lude Franke, Martin Gögele, Jaana Hartiala, Micha Hersch, Hilma Holm, Jouke-Jan Hottenga, Stavroula Kanoni, Marcus E. Kleber, Vasiliki Lagou, Claudia Langenberg, Lorna M. Lopez, Leo-Pekka Lyytikäinen, Olle Melander, Federico Murgia, Ilja M. Nolte, Paul F. O'Reilly, Sandosh Padmanabhan, Afshin Parsa, Nicola Pirastu, Eleonora Porcu, Laura Portas, Inga Prokopenko, Janina S. Ried, So-Youn Shin, Clara S. Tang, Alexander Teumer, Michela Traglia, Sheila Ulivi, Harm-Jan Westra, Jian Yang, Jing Hua Zhao, Franco Anni, Abdel Abdellaoui, Antony Attwood, Beverley Balkau, Stefania Bandinelli, François Bastardot, Beben Benyamin, Bernhard O. Boehm, William O. Cookson, Debashish Das, Paul I. W. de Bakker, Rudolf A. de Boer, Eco J. C. de Geus, Marleen H. de Moor, Maria Dimitriou, Francisco S. Domingues, Angela Döring, Gunnar Engström, Gudmundur Ingi Eyjolfsson, Luigi Ferrucci, Krista Fischer, Renzo Galanello, Stephen F. Garner, Bernd Genser, Quince D. Gibson, Giorgia Girotto, Daniel Fannar Gudbjartsson, Sarah E. Harris, Anna-Liisa Hartikainen, Claire E. Hastie, Bo Hedblad, Thomas Illig, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger, Yasin Memari, Evelin Mihailov, Kathy Miller, Miriam F. Moffatt, Matthias Nauck, Maria Novatchkova, Teresa Nutile, Isleifur Olafsson, Pall T. Onundarson, Debora Parracciani, Brenda W. Penninx, Lucia Perseu, Antonio Piga, Giorgio Pistis, Anneli Pouta, Ursula Puc, Olli Raitakari, Susan M. Ring, Antonietta Robino, Daniela Ruggiero, Aimo Ruokonen, Aude Saint-Pierre, Cinzia Sala, Andres Salumets, Jennifer Sambrook, Hein Schepers, Carsten Oliver Schmidt, Herman H. W. Silljé, Rob Sladek, Johannes H. Smit, John M. Starr, Jonathan Stephens, Patrick Sulem, Toshiko Tanaka, Unnur Thorsteinsdottir, Vinicius Tragante, Wiek H. van Gilst, L. Joost van Pelt, Dirk J. van Veldhuisen, Uwe Völker, John B. Whitfield, Gonneke Willemsen, Bernhard R. Winkelmann, Gerald Wirnsberger, Ale Algra, Francesco Cucca, Adamo Pio d'Adamo, John Danesh, Ian J. Deary, Anna F. Dominiczak, Paul Elliott, Paolo Fortina, Philippe Froguel, Paolo Gasparini, Andreas Greinacher, Stanley L. Hazen, Marjo-Riitta Jarvelin, Kay Tee Khaw, Terho Lehtimäki, Winfried Maerz, Nicholas G. Martin, Andres Metspalu, Braxton D. Mitchell, Grant W. Montgomery, Carmel Moore, Gerjan Navis, Mario Pirastu, Peter P. Pramstaller, Ramiro Ramirez-Solis, Eric Schadt, James Scott, Alan R. Shuldiner, George Davey Smith, J. Gustav Smith, Harold Snieder, Rossella Sorice, Tim D. Spector, Kari Stefansson, Michael Stumvoll, W. H. Wilson Tang, Daniela Toniolo, Anke Tönjes, Peter M. Visscher, Peter Vollenweider, Nicholas J. Wareham, Bruce H. R. Wolffenbuttel, Dorret I. Boomsma, Jacques S. Beckmann, George V. Dedoussis, Panos Deloukas, Manuel A. Ferreira, Serena Sanna, Manuela Uda, Andrew A. Hicks, Josef Martin Penninger, Christian Gieger, Jaspal S. Kooner, Willem H. Ouwehand, Nicole Soranzo & John C. Chambers/titolo:Seventy-five genetic loci influencing the human red blood cell/doi:10.1038%2Fnature11677/rivista:Nature (Lond.)/anno:2012/pagina_da:369/pagina_a:375/intervallo_pagine:369–375/volume:492, Nature; Vol 492, 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, Gögele, M, Hartiala, J, Hersch, M, Holm, H, Hottenga, J J, Kanoni, S, Kleber, M E, Lagou, V, Langenberg, C, Lopez, L M, Lyytikäinen, L P, Melander, O, Murgia, F, Nolte, I M, O'Reilly, P F, Padmanabhan, S, Parsa, A, Pirastu, N, Porcu, E, Portas, L, Prokopenko, I, Ried, J S, Shin, S Y, Tang, C S, Teumer, A, Traglia, M, Ulivi, S, Westra, H J, Yang, J, Zhao, J H, Anni, F, Abdellaoui, A, Attwood, A, Balkau, B, Bandinelli, S, Bastardot, F, Benyamin, B, Boehm, B O, Cookson, W O, Das, D, de Bakker, P I, de Boer, R A, de Geus, E J C, de Moor, M H M, Dimitriou, M, Domingues, F S, Döring, A, Engström, G, Eyjolfsson, G I, Ferrucci, L, Fischer, K, Galanello, R, Garner, S F, Genser, B, Gibson, Q D, Girotto, G, Gudbjartsson, D F, Harris, S E, Hartikainen, A L, Hastie, C E, Hedblad, B, Illig, T, Jolley, J, Kähönen, M, Kema, I P, Kemp, J P, Liang, L, Lloyd-Jones, H, Loos, R J, Meacham, S, Medland, S E, Meisinger, C, Memari, Y, Mihailov, E, Miller, K, Moffatt, M F, Nauck, M, Novatchkova, M, Nutile, T, Olafsson, I, Onundarson, P T, Parracciani, D, Penninx, B W J H, Perseu, L, Piga, A, Pisits, G, Pouta, A, Puc, U, Raitakari, O, Ring, S M, Robino, A, Ruggiero, D, Ruokonen, A, Saint-Pierre, A, Sala, C, Salumets, A, Sambrook, J, Schepers, H, Schmidt, C O, Silljé, H H, Sladek, R, Smit, J H, Starr, J M, Stephens, J, Sulem, P, Tanaka, T, Thorsteinsdottir, U, Tragante, V, van Gilst, W H, van Pelt, L J, van Veldhuisen, D J, Völker, U, Whitfield, J B, Willemsen, G, Winkelmann, B R, Wirnsberger, G, Algra, A, Cucca, F, d'Adamo, A P, Danesh, J, Deary, I J, Dominiczak, A F, Elliott, P, Fortina, P, Froguel, P, Gasparini, P, Greinacher, A, Hazen, S L, Jarvelin, M-R, Khaw, K T, Lehtimäki, T, Maerz, W, Martin, N G, Metspalu, A, Mitchell, B D, Montgomery, G W, Moore, C, Navis, G, Pirastu, M, Pramstaller, P P, Ramirez-Solis, R, Schadt, E, Scott, J, Shuldiner, A R, Smith, G D, Smith, J G, Snieder, H, Sorice, R, Spector, T D, Stefansson, K, Stumvoll, M, Tang, W H, Toniolo, D, Tönjes, A, Visscher, P M, Vollenweider, P, Wareham, N J, Wolffenbuttel, B H R, Boomsma, D I, Beckmann, J S, Dedoussis, G V, Deloukas, P, Ferreira, M A, Sanna, S, Uda, M, Hicks, A A, Penninger, J M, Gieger, C, Kooner, J S, Ouwehand, W H, Soranzo, N & Chambers, J C 2012, ' Seventy-five genetic loci influencing the human red blood cell ', Nature, vol. 492, no. 7429, pp. 369-375 . https://doi.org/10.1038/nature11677, Nature, 492(7429), 369, Nature, 492(7429), 369-375. Nature Publishing Group, Nature, Nature, 492, 369-75, Nature, 492, 7429, pp. 369-75
- Accession number :
- edsair.doi.dedup.....b51ef345443e43af405954804c7d0684