Seventy-five genetic loci influencing the human red blood cell

van der Harst, Pim; van Pelt, Lj Joost; d'Adamo, Ap; Zhang, Weihua; Mateo Leach, Irene; Rendon, Augusto; Zhao, Jing Hua; Verweij, Niek; Leach, Irene Mateo; Sehmi, Joban; Paul, Dirk S.; Ds, Paul; Harst, P. van der; Elling, Ulrich; Allayee, Hooman; St, Tan; Li, Xinzhong; Radhakrishnan, Aparna; Cx, Weichenberger; Tan, Sian-Tsung; Voss, Katrin; Ca, Albers; Weichenberger, Christian X.; Albers, Cornelis A.; Fw, Asselbergs; Al-Hussani, Abtehale; Asselbergs, Folkert W.; Dm, Evans; Ciullo, Marina; Danjou, Fabrice; Jj, Hottenga; Dina, Christian; Esko, Tõnu; Me, Kleber; Evans, David M.; Franke, Lude; Gögele, Martin; Lm, Lopez; Hartiala, Jaana; Lp, Lyytikäinen; Hersch, Micha; Holm, Hilma; Im, Nolte; Hottenga, Jouke-Jan; Kanoni, Stavroula; Pf, O'Reilly; Kleber, Marcus E.; Lagou, Vasiliki; Js, Ried; Langenberg, Claudia; Lopez, Lorna M.; Sy, Shin; Lyytikäinen, Leo-Pekka; Melander, Olle; Cs, Tang; Murgia, Federico; Nolte, Ilja M.; O'Reilly, Pf F.; O’reilly, Paul F.; OŔeilly, P. F.; Padmanabhan, Sandosh; Parsa, Afshin; Gögele, Martin; Pirastu, Nicola; Porcu, Eleonora; Hj, Westra; Portas, Laura; Prokopenko, Inga; Jh, Zhao; Ried, Janina S.; Shin, So-Youn; Bo, Boehm; Tang, Clara S.; Teumer, Alexander; Wo, Cookson; Traglia, Michela; Ulivi, Sheila; Pi, de Bakker; Westra, Harm-Jan; Yang, Jian; Ra, de Boer; Hua Zhao, Jing; Anni, Franco; Ej, de Geus; Abdellaoui, Abdel; Attwood, Antony; Mh, de Moor; Balkau, Beverley; Bandinelli, Stefania; Fs, Domingues; Bastardot, François; Benyamin, Beben; Döring, Angela; Boehm, Bernhard O.; Cookson, William O.; Gi, Eyjolfsson; Das, Debashish; de Bakker, Paul I. W.; Eyjolfsson, Gudmundur Ingi; de Boer, Rudolf A.; de Geus, Eco J. C.; Sf, Garner; de Moor, Marleen H.; Dimitriou, Maria; Qd, Gibson; Domingues, Francisco S.; Doring, Angela; Df, Gudbjartsson; Engström, Gunnar; Ingi Eyjolfsson, Gudmundur; Se, Harris; Ferrucci, Luigi; Fischer, Krista; Al, Hartikainen; Galanello, Renzo; Garner, Stephen F.; Gudbjartsson, Daniel Fannar; Genser, Bernd; Ce, Hastie; Gibson, Quince D.; Girotto, Giorgia; Ip, Kema; Fannar Gudbjartsson, Daniel; Harris, Sarah E.; Jp, Kemp; Hartikainen, Anna-Liisa; Hastie, Claire E.; Rj, Loos; Hedblad, Bo; Illig, Thomas; Se, Medland; Jolley, Jennifer; Kähönen, Mika; Kema, Ido P.; Kemp, John P.; Liang, Liming; Lloyd-Jones, Heather; Mf, Moffatt; Loos, Ruth J. F.; Meacham, Stuart; Medland, Sarah E.; Meisinger, Christa; Pt, Onundarson; Memari, Yasin; Mihailov, Evelin; Kahonen, Mika; Miller, Kathy; Moffatt, Miriam F.; Bw, Penninx; Nauck, Matthias; Novatchkova, Maria; Sm, Ring; Nutile, Teresa; Olafsson, Isleifur; Bakker, P. I. de; Onundarson, Pall T.; Parracciani, Debora; Schmidt, Carsten Oliver; Penninx, Brenda W.; Perseu, Lucia; Co, Schmidt; Piga, Antonio; Pistis, Giorgio; Boer, R. A. de; Pouta, Anneli; Puc, Ursula; Hh, Silljé; Raitakari, Olli; Ring, Susan M.; Jh, Smit; Robino, Antonietta; Ruggiero, Daniela; Jm, Starr; Ruokonen, Aimo; Saint-Pierre, Aude; Geus, E. J. de; Sala, Cinzia; Wh, van Gilst; Salumets, Andres; Sambrook, Jennifer; Moor, M. H. de; Schepers, Hein; Oliver Schmidt, Carsten; Lj, van Pelt; Silljé, Herman H. W.; Sladek, Rob; Dj, van Veldhuisen; Smit, Johannes H.; Starr, John M.; Van Pelt, L. J.; Stephens, Jonathan; Sulem, Patrick; Jb, Whitfield; Tanaka, Toshiko; Thorsteinsdottir, Unnur; Volker, Uwe; Tragante, Vinicius; van Gilst, Wiek H.; Br, Winkelmann; Joost van Pelt, L.; van Veldhuisen, Dirk J.; Ij, Deary; Völker, Uwe; Whitfield, John B.; D'Adamo, Adamo Pio; Willemsen, Gonneke; Winkelmann, Bernhard R.; Af, Dominiczak; Wirnsberger, Gerald; Algra, Ale; Sl, Hazen; Cucca, Francesco; d’Adamo, Adamo Pio; dÁdamo, A. P.; Danesh, John; Deary, Ian J.; Mr, Jarvelin; Dominiczak, Anna F.; Khaw, Kay Tee; Elliott, Paul; Fortina, Paolo; Kt, Khaw; Froguel, Philippe; Gasparini, Paolo; Ng, Martin; Greinacher, Andreas; Hazen, Stanley L.; Bd, Mitchell; Jarvelin, Marjo-Riitta; Tee Khaw, Kay; Gw, Montgomery; Lehtimäki, Terho; Maerz, Winfried; Pp, Pramstaller; Martin, Nicholas G.; Metspalu, Andres; Ar, Shuldiner; Mitchell, Braxton D.; Montgomery, Grant W.; Smith, George Davey; Moore, Carmel; Navis, Gerjan; Gd, Smith; Pirastu, Mario; Pramstaller, Peter Pp; Jg, Smith; Ramirez-Solis, Ramiro; Schadt, Eric; Smith, Jg Gustav; Scott, James; Shuldiner, Alan R.; Td, Spector; Davey Smith, George; Gustav Smith, J.; Wh, Tang; Snieder, Harold; Sorice, Rossella; Tang, W. H.; Spector, Tim D.; Stefansson, Kari; Tönjes, Anke; Stumvoll, Michael; Wilson Tang, W. H.; Pm, Visscher; Toniolo, Daniela; Tönjes, Anke; Nj, Wareham; Visscher, Peter M.; Vollenweider, Peter; Bh, Wolffenbuttel; Wareham, Nicholas J.; Wolffenbuttel, Bruce H. R.; Di, Boomsma; Boomsma, Dorret I.; Js, Beckmann; Beckmann, Jacques S.; Gv, Dedoussis; Dedoussis, George V.; Deloukas, Panos; Ferreira, Manuel A.; Ma, Ferreira; Sanna, Serena; Uda, Manuela; Aa, Hicks; Hicks, Andrew Aa; Martin Penninger, Josef; Jm, Penninger; Penninger, Josef Martin; Gieger, Christian; Js, Kooner; Kooner, Jaspal S.; Wh, Ouwehand; Ouwehand, Willem H.; Soranzo, Nicole; Chambers, John C.

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Niek Verweij
van der Harst et al., 2012

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Nature Research, Nature, 7429(492), p. 369-375, 2012

DOI: 10.1038/nature11677

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@article{van der Harst2012,
  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 &lt; 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.},
  author = {van der Harst, Pim and van Pelt, Lj Joost and d'Adamo, Ap and Zhang, Weihua and Mateo Leach, Irene and Rendon, Augusto and Zhao, Jing Hua and Verweij, Niek and Leach, Irene Mateo and Sehmi, Joban and Paul, Dirk S. and Ds, Paul and Harst, P. van der and Elling, Ulrich and Allayee, Hooman and St, Tan and Li, Xinzhong and Radhakrishnan, Aparna and Cx, Weichenberger and Tan, Sian-Tsung and Voss, Katrin and Ca, Albers and Weichenberger, Christian X. and Albers, Cornelis A. and Fw, Asselbergs and Al-Hussani, Abtehale and Asselbergs, Folkert W. and Dm, Evans and Ciullo, Marina and Danjou, Fabrice and Jj, Hottenga and Dina, Christian and Esko, Tõnu and Me, Kleber and Evans, David M. and Franke, Lude and Gögele, Martin and Lm, Lopez and Hartiala, Jaana and Lp, Lyytikäinen and Hersch, Micha and Holm, Hilma and Im, Nolte and Hottenga, Jouke-Jan and Kanoni, Stavroula and Pf, O'Reilly and Kleber, Marcus E. and Lagou, Vasiliki and Js, Ried and Langenberg, Claudia and Lopez, Lorna M. and Sy, Shin and Lyytikäinen, Leo-Pekka and Melander, Olle and Cs, Tang and Murgia, Federico and Nolte, Ilja M. and O'Reilly, Pf F. and O’reilly, Paul F. and OŔeilly, P. F. and Padmanabhan, Sandosh and Parsa, Afshin and Gögele, Martin and Pirastu, Nicola and Porcu, Eleonora and Hj, Westra and Portas, Laura and Prokopenko, Inga and Jh, Zhao and Ried, Janina S. and Shin, So-Youn and Bo, Boehm and Tang, Clara S. and Teumer, Alexander and Wo, Cookson and Traglia, Michela and Ulivi, Sheila and Pi, de Bakker and Westra, Harm-Jan and Yang, Jian and Ra, de Boer and Hua Zhao, Jing and Anni, Franco and Ej, de Geus and Abdellaoui, Abdel and Attwood, Antony and Mh, de Moor and Balkau, Beverley and Bandinelli, Stefania and Fs, Domingues and Bastardot, François and Benyamin, Beben and Döring, Angela and Boehm, Bernhard O. and Cookson, William O. and Gi, Eyjolfsson and Das, Debashish and de Bakker, Paul I. W. and Eyjolfsson, Gudmundur Ingi and de Boer, Rudolf A. and de Geus, Eco J. C. and Sf, Garner and de Moor, Marleen H. and Dimitriou, Maria and Qd, Gibson and Domingues, Francisco S. and Doring, Angela and Df, Gudbjartsson and Engström, Gunnar and Ingi Eyjolfsson, Gudmundur and Se, Harris and Ferrucci, Luigi and Fischer, Krista and Al, Hartikainen and Galanello, Renzo and Garner, Stephen F. and Gudbjartsson, Daniel Fannar and Genser, Bernd and Ce, Hastie and Gibson, Quince D. and Girotto, Giorgia and Ip, Kema and Fannar Gudbjartsson, Daniel and Harris, Sarah E. and Jp, Kemp and Hartikainen, Anna-Liisa and Hastie, Claire E. and Rj, Loos and Hedblad, Bo and Illig, Thomas and Se, Medland and Jolley, Jennifer and Kähönen, Mika and Kema, Ido P. and Kemp, John P. and Liang, Liming and Lloyd-Jones, Heather and Mf, Moffatt and Loos, Ruth J. F. and Meacham, Stuart and Medland, Sarah E. and Meisinger, Christa and Pt, Onundarson and Memari, Yasin and Mihailov, Evelin and Kahonen, Mika and Miller, Kathy and Moffatt, Miriam F. and Bw, Penninx and Nauck, Matthias and Novatchkova, Maria and Sm, Ring and Nutile, Teresa and Olafsson, Isleifur and Bakker, P. I. de and Onundarson, Pall T. and Parracciani, Debora and Schmidt, Carsten Oliver and Penninx, Brenda W. and Perseu, Lucia and Co, Schmidt and Piga, Antonio and Pistis, Giorgio and Boer, R. A. de and Pouta, Anneli and Puc, Ursula and Hh, Silljé and Raitakari, Olli and Ring, Susan M. and Jh, Smit and Robino, Antonietta and Ruggiero, Daniela and Jm, Starr and Ruokonen, Aimo and Saint-Pierre, Aude and Geus, E. J. de and Sala, Cinzia and Wh, van Gilst and Salumets, Andres and Sambrook, Jennifer and Moor, M. H. de and Schepers, Hein and Oliver Schmidt, Carsten and Lj, van Pelt and Silljé, Herman H. W. and Sladek, Rob and Dj, van Veldhuisen and Smit, Johannes H. and Starr, John M. and Van Pelt, L. J. and Stephens, Jonathan and Sulem, Patrick and Jb, Whitfield and Tanaka, Toshiko and Thorsteinsdottir, Unnur and Volker, Uwe and Tragante, Vinicius and van Gilst, Wiek H. and Br, Winkelmann and Joost van Pelt, L. and van Veldhuisen, Dirk J. and Ij, Deary and Völker, Uwe and Whitfield, John B. and D'Adamo, Adamo Pio and Willemsen, Gonneke and Winkelmann, Bernhard R. and Af, Dominiczak and Wirnsberger, Gerald and Algra, Ale and Sl, Hazen and Cucca, Francesco and d’Adamo, Adamo Pio and dÁdamo, A. P. and Danesh, John and Deary, Ian J. and Mr, Jarvelin and Dominiczak, Anna F. and Khaw, Kay Tee and Elliott, Paul and Fortina, Paolo and Kt, Khaw and Froguel, Philippe and Gasparini, Paolo and Ng, Martin and Greinacher, Andreas and Hazen, Stanley L. and Bd, Mitchell and Jarvelin, Marjo-Riitta and Tee Khaw, Kay and Gw, Montgomery and Lehtimäki, Terho and Maerz, Winfried and Pp, Pramstaller and Martin, Nicholas G. and Metspalu, Andres and Ar, Shuldiner and Mitchell, Braxton D. and Montgomery, Grant W. and Smith, George Davey and Moore, Carmel and Navis, Gerjan and Gd, Smith and Pirastu, Mario and Pramstaller, Peter Pp and Jg, Smith and Ramirez-Solis, Ramiro and Schadt, Eric and Smith, Jg Gustav and Scott, James and Shuldiner, Alan R. and Td, Spector and Davey Smith, George and Gustav Smith, J. and Wh, Tang and Snieder, Harold and Sorice, Rossella and Tang, W. H. and Spector, Tim D. and Stefansson, Kari and Tönjes, Anke and Stumvoll, Michael and Wilson Tang, W. H. and Pm, Visscher and Toniolo, Daniela and Tönjes, Anke and Nj, Wareham and Visscher, Peter M. and Vollenweider, Peter and Bh, Wolffenbuttel and Wareham, Nicholas J. and Wolffenbuttel, Bruce H. R. and Di, Boomsma and Boomsma, Dorret I. and Js, Beckmann and Beckmann, Jacques S. and Gv, Dedoussis and Dedoussis, George V. and Deloukas, Panos and Ferreira, Manuel A. and Ma, Ferreira and Sanna, Serena and Uda, Manuela and Aa, Hicks and Hicks, Andrew Aa and Martin Penninger, Josef and Jm, Penninger and Penninger, Josef Martin and Gieger, Christian and Js, Kooner and Kooner, Jaspal S. and Wh, Ouwehand and Ouwehand, Willem H. and Soranzo, Nicole and Chambers, John C.},
  doi = {10.1038/nature11677},
  journal = {Nature},
  month = {dec},
  pages = {369-375},
  title = {Seventy-five genetic loci influencing the human red blood cell},
  url = {http://www.nature.com/articles/nature11677.pdf},
  volume = {492},
  year = {2012}
}

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Seventy-five genetic loci influencing the human red blood cell

Journal article published in 2012 by Pim van der Harst, Lj Joost van Pelt, Ap d'Adamo, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Jing Hua Zhao, Niek Verweij

, Irene Mateo Leach, Joban Sehmi, Dirk S. Paul

, Paul Ds, P. van der Harst, Ulrich Elling, Hooman Allayee and other authors. Pim van der Harst, Lj Joost van Pelt, Ap d'Adamo, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Jing Hua Zhao, Niek Verweij

, Irene Mateo Leach, Joban Sehmi, Dirk S. Paul

, Paul Ds, P. van der Harst, Ulrich Elling, Hooman Allayee, Tan St, Xinzhong Li, Aparna Radhakrishnan, Weichenberger Cx, Sian-Tsung Tan, Katrin Voss, Albers Ca, Christian X. Weichenberger, Cornelis A. Albers, Asselbergs Fw, Abtehale Al-Hussani, Folkert W. Asselbergs, Evans Dm, Marina Ciullo, Fabrice Danjou

, Hottenga Jj, Christian Dina, Tõnu Esko

, Kleber Me, David M. Evans, Lude Franke

, Martin Gögele, Lopez Lm, Jaana Hartiala, Lyytikäinen Lp, Micha Hersch, Hilma Holm, Nolte Im, Jouke-Jan Hottenga, Stavroula Kanoni, O'Reilly Pf, Marcus E. Kleber, Vasiliki Lagou, Ried Js, Claudia Langenberg, Lorna M. Lopez, Shin Sy, Leo-Pekka Lyytikäinen, Olle Melander, Tang Cs, Federico Murgia

, Ilja M. Nolte, Pf F. O'Reilly, Paul F. O’reilly, P. F. OŔeilly, Sandosh Padmanabhan, Afshin Parsa, Martin Gögele, Nicola Pirastu, Eleonora Porcu, Westra Hj, Laura Portas, Inga Prokopenko

, Zhao Jh, Janina S. Ried, So-Youn Shin, Boehm Bo, Clara S. Tang, Alexander Teumer, Cookson Wo, Michela Traglia, Sheila Ulivi, de Bakker Pi, Harm-Jan Westra, Jian Yang

, de Boer Ra, Jing Hua Zhao, Franco Anni, de Geus Ej, Abdel Abdellaoui, Antony Attwood, de Moor Mh, Beverley Balkau, Stefania Bandinelli, Domingues Fs, François Bastardot, Beben Benyamin, Angela Döring, Bernhard O. Boehm, William O. Cookson, Eyjolfsson Gi, Debashish Das, Paul I. W. de Bakker, Gudmundur Ingi Eyjolfsson, Rudolf A. de Boer, Eco J. C. de Geus, Garner Sf, Marleen H. de Moor, Maria Dimitriou, Gibson Qd, Francisco S. Domingues, Angela Doring, Gudbjartsson Df, Gunnar Engström, Gudmundur Ingi Eyjolfsson, Harris Se, Luigi Ferrucci, Krista Fischer, Hartikainen Al, Renzo Galanello, Stephen F. Garner, Daniel Fannar Gudbjartsson, Bernd Genser, Hastie Ce, Quince D. Gibson, Giorgia Girotto, Kema Ip, Daniel Fannar Gudbjartsson

, Sarah E. Harris, Kemp Jp, Anna-Liisa Hartikainen, Claire E. Hastie, Loos Rj, Bo Hedblad, Thomas Illig, Medland Se, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Moffatt Mf, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger

, Onundarson Pt, Yasin Memari, Evelin Mihailov, Mika Kahonen, Kathy Miller, Miriam F. Moffatt, Penninx Bw, Matthias Nauck, Maria Novatchkova, Ring Sm, Teresa Nutile, Isleifur Olafsson, P. I. de Bakker, Pall T. Onundarson, Debora Parracciani, Carsten Oliver Schmidt, Brenda W. Penninx, Lucia Perseu, Schmidt Co, Antonio Piga, Giorgio Pistis, R. A. de Boer, Anneli Pouta, Ursula Puc, Silljé Hh, Olli Raitakari, Susan M. Ring, Smit Jh, Antonietta Robino, Daniela Ruggiero, Starr Jm, Aimo Ruokonen, Aude Saint-Pierre, E. J. de Geus, Cinzia Sala, van Gilst Wh, Andres Salumets, Jennifer Sambrook, M. H. de Moor, Hein Schepers, Carsten Oliver Schmidt, van Pelt Lj, Herman H. W. Silljé, Rob Sladek

, van Veldhuisen Dj, Johannes H. Smit, John M. Starr, L. J. Van Pelt, Jonathan Stephens, Patrick Sulem, Whitfield Jb, Toshiko Tanaka, Unnur Thorsteinsdottir, Uwe Volker, Vinicius Tragante, Wiek H. van Gilst, Winkelmann Br, L. Joost van Pelt, Dirk J. van Veldhuisen, Deary Ij, Uwe Völker, John B. Whitfield, Adamo Pio D'Adamo

, Gonneke Willemsen, Bernhard R. Winkelmann, Dominiczak Af, Gerald Wirnsberger, Ale Algra, Hazen Sl, Francesco Cucca, Adamo Pio d’Adamo, A. P. dÁdamo, John Danesh, Ian J. Deary, Jarvelin Mr, Anna F. Dominiczak, Kay Tee Khaw, Paul Elliott, Paolo Fortina, Khaw Kt, Philippe Froguel, Paolo Gasparini, Martin Ng, Andreas Greinacher, Stanley L. Hazen, Mitchell Bd, Marjo-Riitta Jarvelin, Kay Tee Khaw, Montgomery Gw, Terho Lehtimäki, Winfried Maerz, Pramstaller Pp, Nicholas G. Martin

, Andres Metspalu, Shuldiner Ar, Braxton D. Mitchell, Grant W. Montgomery, George Davey Smith, Carmel Moore, Gerjan Navis, Smith Gd, Mario Pirastu, Peter Pp Pramstaller

, Smith Jg, Ramiro Ramirez-Solis, Eric Schadt, Jg Gustav Smith, James Scott, Alan R. Shuldiner, Spector Td, George Davey Smith, J. Gustav Smith, Tang Wh, Harold Snieder, Rossella Sorice, W. H. Tang, Tim D. Spector, Kari Stefansson, Anke Tönjes, Michael Stumvoll, W. H. Wilson Tang, Visscher Pm, Daniela Toniolo, Anke Tönjes, Wareham Nj, Peter M. Visscher, Peter Vollenweider, Wolffenbuttel Bh, Nicholas J. Wareham, Bruce H. R. Wolffenbuttel, Boomsma Di, Dorret I. Boomsma, Beckmann Js, Jacques S. Beckmann

, Dedoussis Gv, George V. Dedoussis, Panos Deloukas

, Manuel A. Ferreira, Ferreira Ma, Serena Sanna

, Manuela Uda, Hicks Aa, Andrew Aa Hicks, Josef Martin Penninger, Penninger Jm, Josef Martin Penninger, Christian Gieger

, Kooner Js, Jaspal S. Kooner, Ouwehand Wh, Willem H. Ouwehand, Nicole Soranzo, John C. Chambers

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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.

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Seventy-five genetic loci influencing the human red blood cell

Abstract