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 Other erythrocyte phenotypes. The EFO term mean corpuscular hemoglobin concentration 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 concentration

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

SK Ganesh, NA Zakai, FJ van Rooij, N Soranzo, AV Smith, MA Nalls, MH Chen, A Kottgen, NL Glazer, A Dehghan, B Kuhnel, T Aspelund, Q Yang, T Tanaka, A Jaffe, JC Bis, GC Verwoert, A Teumer, CS Fox, JM Guralnik, GB Ehret, K Rice, JF Felix, A Rendon, G Eiriksdottir, D Levy, KV Patel, E Boerwinkle, JI Rotter, A Hofman, JG Sambrook, DG Hernandez, G Zheng, S Bandinelli, AB Singleton, J Coresh, T Lumley, AG Uitterlinden, JM Vangils, LJ Launer, LA Cupples, BA Oostra, JJ Zwaginga, WH Ouwehand, SL Thein, C Meisinger, P Deloukas, M Nauck, TD Spector, C Gieger, V Gudnason, CM van Duijn, BM Psaty, L Ferrucci, A Chakravarti, A Greinacher, CJ O'Donnell, JC Witteman, S Furth, M Cushman, TB Harris, JP Lin

TITLE:

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

JOURNAL:

Nature genetics Nov 2009, Vol 41, pp. 1191-8

ABSTRACT:

Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures. PUBMED: 19862010
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