Seventy-five genetic loci influencing the human red blood cell.

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State: Public
Version: author
Serval ID
serval:BIB_A33D6D054D38
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Seventy-five genetic loci influencing the human red blood cell.
Journal
Nature
Author(s)
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., de Moor M.H., 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., Perseu L., Piga A., Pistis 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., 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.
ISSN
1476-4687 (Electronic)
ISSN-L
0028-0836
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
492
Number
7429
Pages
369-375
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish PDF type: Article
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.
Pubmed
Web of science
Open Access
Yes
Create date
10/01/2013 12:59
Last modification date
20/08/2019 16:08
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