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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.

Seventy-five genetic loci influencing the human red blood cell / 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; Tonu, Esko; David M., Evans; Lude, Franke; Martin, Gogele; Jaana, Hartiala; Micha, Hersch; Hilma, Holm; Jouke Jan, Hottenga; Stavroula, Kanoni; Marcus E., Kleber; Vasiliki, Lagou; Claudia, Langenberg; Lorna M., Lopez; Leo Pekka, Lyytikainen; 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; J. H., 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, Doring; Gunnar, Engstrom; G. I., Eyjolfsson; Luigi, Ferrucci; Krista, Fischer; Renzo, Galanello; Stephen F., Garner; Bernd, Genser; Quince D., Gibson; Giorgia, Girotto; D. F., Gudbjartsson; Sarah E., Harris; Anna Liisa, Hartikainen; Claire E., Hastie; Bo, Hedblad; Thomas, Illig; Jennifer, Jolley; Mika, Kahonen; 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; C. O., Schmidt; Herman H. W., Sillje; Rob, Sladek; Johannes H., Smit; John M., Starr; Jonathan, Stephens; Patrick, Sulem; Toshiko, Tanaka; Unnur, Thorsteinsdottir; Vinicius, Tragante; Wiek H., Van Gilst; L. J., Van Pelt; Dirk J., Van Veldhuisen; Uwe, Volker; 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; Fortina, Paolo; Philippe, Froguel; Paolo, Gasparini; Andreas, Greinacher; Stanley L., Hazen; Marjo Riitta, Jarvelin; K. T., Khaw; Terho, Lehtimaki; 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; G. D., Smith; J. G., Smith; Harold, Snieder; Rossella, Sorice; Tim D., Spector; Kari, Stefansson; Michael, Stumvoll; W. H., Tang; Daniela, Toniolo; Anke, Tonjes; 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; J. M., Penninger; Christian, Gieger; Jaspal S., Kooner; Willem H., Ouwehand; Nicole, Soranzo; John C., Chambers. - In: NATURE. - ISSN 0028-0836. - STAMPA. - 492:7429(2012), pp. 369-375. [10.1038/nature11677]

Seventy-five genetic loci influencing the human red blood cell

FORTINA, PAOLO;
2012

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.
2012
01 Pubblicazione su rivista::01a Articolo in rivista
Seventy-five genetic loci influencing the human red blood cell / 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; Tonu, Esko; David M., Evans; Lude, Franke; Martin, Gogele; Jaana, Hartiala; Micha, Hersch; Hilma, Holm; Jouke Jan, Hottenga; Stavroula, Kanoni; Marcus E., Kleber; Vasiliki, Lagou; Claudia, Langenberg; Lorna M., Lopez; Leo Pekka, Lyytikainen; 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; J. H., 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, Doring; Gunnar, Engstrom; G. I., Eyjolfsson; Luigi, Ferrucci; Krista, Fischer; Renzo, Galanello; Stephen F., Garner; Bernd, Genser; Quince D., Gibson; Giorgia, Girotto; D. F., Gudbjartsson; Sarah E., Harris; Anna Liisa, Hartikainen; Claire E., Hastie; Bo, Hedblad; Thomas, Illig; Jennifer, Jolley; Mika, Kahonen; 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; C. O., Schmidt; Herman H. W., Sillje; Rob, Sladek; Johannes H., Smit; John M., Starr; Jonathan, Stephens; Patrick, Sulem; Toshiko, Tanaka; Unnur, Thorsteinsdottir; Vinicius, Tragante; Wiek H., Van Gilst; L. J., Van Pelt; Dirk J., Van Veldhuisen; Uwe, Volker; 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; Fortina, Paolo; Philippe, Froguel; Paolo, Gasparini; Andreas, Greinacher; Stanley L., Hazen; Marjo Riitta, Jarvelin; K. T., Khaw; Terho, Lehtimaki; 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; G. D., Smith; J. G., Smith; Harold, Snieder; Rossella, Sorice; Tim D., Spector; Kari, Stefansson; Michael, Stumvoll; W. H., Tang; Daniela, Toniolo; Anke, Tonjes; 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; J. M., Penninger; Christian, Gieger; Jaspal S., Kooner; Willem H., Ouwehand; Nicole, Soranzo; John C., Chambers. - In: NATURE. - ISSN 0028-0836. - STAMPA. - 492:7429(2012), pp. 369-375. [10.1038/nature11677]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/556784
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