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1.	van der Harst, Pim, et al. (author) Seventy-five genetic loci influencing the human red blood cell 2012 In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375 Journal article (peer-reviewed)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.
2.	Zillikens, M Carola, et al. (author) Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. 2017 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1 Journal article (peer-reviewed)abstract A correction to this article has been published and is linked from the HTML version of this article.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Khaw, Kay-Tee (2); Soranzo, Nicole (2); Wareham, Nicholas J. (2); Thorsteinsdottir, Un ... (2); Stefansson, Kari (2); Gieger, Christian (2); show more...; Engström, Gunnar (1); Hoffman, Eric P (1); Karlsson, Magnus (1); Vandenput, Liesbeth, ... (1); Lorentzon, Mattias, ... (1); Salomaa, Veikko (1); Jula, Antti (1); Perola, Markus (1); Olafsson, Isleifur (1); Lind, Lars (1); Portas, Laura (1); Melander, Olle (1); Smith, Gustav (1); Ouwehand, Willem H. (1); de Boer, Rudolf A (1); Hedblad, Bo (1); Campbell, Harry (1); Rudan, Igor (1); Ohlsson, Claes, 1965 (1); Deloukas, Panos (1); Salumets, Andres (1); Stancáková, Alena (1); Kuusisto, Johanna (1); Laakso, Markku (1); Kilpeläinen, Tuomas ... (1); Eriksson, Joel (1); Amin, Najaf (1); van Duijn, Cornelia ... (1); Langenberg, Claudia (1); Boehnke, Michael (1); Ingelsson, Erik (1); Ripatti, Samuli (1); Tuomilehto, Jaakko (1); Thorleifsson, Gudmar (1); Verweij, Niek (1); Kraus, William E. (1); Rotter, Jerome I. (1); Shuldiner, Alan R. (1); Schadt, Eric (1); Melhus, Håkan (1); Mellström, Dan, 1945 (1); Broer, Linda (1); Willemsen, Gonneke (1); Oostra, Ben A. (1); show less...

University: University of Gothenburg (1); Lund University (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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