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Article: Seventy-five genetic loci influencing the human red blood cell

TitleSeventy-five genetic loci influencing the human red blood cell
Authors
Issue Date2012
Citation
Nature, 2012, v. 492, n. 7429, p. 369-375 How to Cite?
AbstractAnaemia 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 Macmillan Publishers Limited. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/221332
ISSN
2015 Impact Factor: 38.138
2015 SCImago Journal Rankings: 21.936

 

DC FieldValueLanguage
dc.contributor.authorVan Der Harst, Pim-
dc.contributor.authorZhang, Weihua-
dc.contributor.authorMateo Leach, Irene-
dc.contributor.authorRendon, Augusto-
dc.contributor.authorVerweij, Niek-
dc.contributor.authorSehmi, Joban-
dc.contributor.authorPaul, Dirk S.-
dc.contributor.authorElling, Ulrich-
dc.contributor.authorAllayee, Hooman-
dc.contributor.authorLi, Xinzhong-
dc.contributor.authorRadhakrishnan, Aparna-
dc.contributor.authorTan, Sian Tsung-
dc.contributor.authorVoss, Katrin-
dc.contributor.authorWeichenberger, Christian X.-
dc.contributor.authorAlbers, Cornelis A.-
dc.contributor.authorAl-Hussani, Abtehale-
dc.contributor.authorAsselbergs, Folkert W.-
dc.contributor.authorCiullo, Marina-
dc.contributor.authorDanjou, Fabrice-
dc.contributor.authorDina, Christian-
dc.contributor.authorEsko, Tõnu-
dc.contributor.authorEvans, David M.-
dc.contributor.authorFranke, Lude-
dc.contributor.authorGögele, Martin-
dc.contributor.authorHartiala, Jaana-
dc.contributor.authorHersch, Micha-
dc.contributor.authorHolm, Hilma-
dc.contributor.authorHottenga, Jouke Jan-
dc.contributor.authorKanoni, Stavroula-
dc.contributor.authorKleber, Marcus E.-
dc.contributor.authorLagou, Vasiliki-
dc.contributor.authorLangenberg, Claudia-
dc.contributor.authorLopez, Lorna M.-
dc.contributor.authorLyytikäinen, Leo Pekka-
dc.contributor.authorMelander, Olle-
dc.contributor.authorMurgia, Federico-
dc.contributor.authorNolte, Ilja M.-
dc.contributor.authorO'Reilly, Paul F.-
dc.contributor.authorPadmanabhan, Sandosh-
dc.contributor.authorParsa, Afshin-
dc.contributor.authorPirastu, Nicola-
dc.contributor.authorPorcu, Eleonora-
dc.contributor.authorPortas, Laura-
dc.contributor.authorProkopenko, Inga-
dc.contributor.authorRied, Janina S.-
dc.contributor.authorShin, So Youn-
dc.contributor.authorTang, Clara S.-
dc.contributor.authorTeumer, Alexander-
dc.contributor.authorTraglia, Michela-
dc.contributor.authorUlivi, Sheila-
dc.contributor.authorWestra, Harm Jan-
dc.contributor.authorYang, Jian-
dc.contributor.authorHua Zhao, Jing-
dc.contributor.authorAnni, Franco-
dc.contributor.authorAbdellaoui, Abdel-
dc.contributor.authorAttwood, Antony-
dc.contributor.authorBalkau, Beverley-
dc.contributor.authorBandinelli, Stefania-
dc.contributor.authorBastardot, François-
dc.contributor.authorBenyamin, Beben-
dc.contributor.authorBoehm, Bernhard O.-
dc.contributor.authorCookson, William O.-
dc.contributor.authorDas, Debashish-
dc.contributor.authorDe Bakker, Paul I W-
dc.contributor.authorDe Boer, Rudolf A.-
dc.date.accessioned2015-11-18T06:09:01Z-
dc.date.available2015-11-18T06:09:01Z-
dc.date.issued2012-
dc.identifier.citationNature, 2012, v. 492, n. 7429, p. 369-375-
dc.identifier.issn0028-0836-
dc.identifier.urihttp://hdl.handle.net/10722/221332-
dc.description.abstractAnaemia 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 Macmillan Publishers Limited. All rights reserved.-
dc.languageeng-
dc.relation.ispartofNature-
dc.titleSeventy-five genetic loci influencing the human red blood cell-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1038/nature11677-
dc.identifier.pmid23222517-
dc.identifier.scopuseid_2-s2.0-84871464519-
dc.identifier.volume492-
dc.identifier.issue7429-
dc.identifier.spage369-
dc.identifier.epage375-
dc.identifier.eissn1476-4687-

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