DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Red blood cell traits. The EFO term mean corpuscular hemoglobin was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: mean corpuscular hemoglobin

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

P van der Harst, W Zhang, I Mateo Leach, A Rendon, N Verweij, J Sehmi, DS Paul, U Elling, H Allayee, X Li, A Radhakrishnan, ST Tan, K Voss, CX Weichenberger, CA Albers, A Al-Hussani, FW Asselbergs, M Ciullo, F Danjou, C Dina, T Esko, DM Evans, L Franke, M Gögele, J Hartiala, M Hersch, H Holm, JJ Hottenga, S Kanoni, ME Kleber, V Lagou, C Langenberg, LM Lopez, LP Lyytikäinen, O Melander, F Murgia, IM Nolte, PF O'Reilly, S Padmanabhan, A Parsa, N Pirastu, E Porcu, L Portas, I Prokopenko, JS Ried, SY Shin, CS Tang, A Teumer, M Traglia, S Ulivi, HJ Westra, J Yang, JH Zhao, F Anni, A Abdellaoui, A Attwood, B Balkau, S Bandinelli, F Bastardot, B Benyamin, BO Boehm, WO Cookson, D Das, PI de Bakker, RA de Boer, EJ de Geus, MH de Moor, M Dimitriou, FS Domingues, A Döring, G Engström, GI Eyjolfsson, L Ferrucci, K Fischer, R Galanello, SF Garner, B Genser, QD Gibson, G Girotto, DF Gudbjartsson, SE Harris, AL Hartikainen, CE Hastie, B Hedblad, T Illig, J Jolley, M Kähönen, IP Kema, JP Kemp, L Liang, H Lloyd-Jones, RJ Loos, S Meacham, SE Medland, C Meisinger, Y Memari, E Mihailov, K Miller, MF Moffatt, M Nauck, M Novatchkova, T Nutile, I Olafsson, PT Onundarson, D Parracciani, BW Penninx, L Perseu, A Piga, G Pistis, A Pouta, U Puc, O Raitakari, SM Ring, A Robino, D Ruggiero, A Ruokonen, A Saint-Pierre, C Sala, A Salumets, J Sambrook, H Schepers, CO Schmidt, HH Silljé, R Sladek, JH Smit, JM Starr, J Stephens, P Sulem, T Tanaka, U Thorsteinsdottir, V Tragante, WH van Gilst, LJ van Pelt, DJ van Veldhuisen, U Völker, JB Whitfield, G Willemsen, BR Winkelmann, G Wirnsberger, A Algra, F Cucca, AP d'Adamo, J Danesh, IJ Deary, AF Dominiczak, P Elliott, P Fortina, P Froguel, P Gasparini, A Greinacher, SL Hazen, MR Jarvelin, KT Khaw, T Lehtimäki, W Maerz, NG Martin, A Metspalu, BD Mitchell, GW Montgomery, C Moore, G Navis, M Pirastu, PP Pramstaller, R Ramirez-Solis, E Schadt, J Scott, AR Shuldiner, GD Smith, JG Smith, H Snieder, R Sorice, TD Spector, K Stefansson, M Stumvoll, WH Tang, D Toniolo, A Tönjes, PM Visscher, P Vollenweider, NJ Wareham, BH Wolffenbuttel, DI Boomsma, JS Beckmann, GV Dedoussis, P Deloukas, MA Ferreira, S Sanna, M Uda, AA Hicks, JM Penninger, C Gieger, JS Kooner, WH Ouwehand, N Soranzo, JC Chambers

TITLE:

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

JOURNAL:

Nature Dec 2012, Vol 492, pp. 369-75

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: 23222517
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