Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
| Autor: | Jerome I. Rotter, Abbas Dehghan, Gang Zheng, Willem H. Ouwehand, Caroline S. Fox, Jack M. Guralnik, Tamara B. Harris, Toshiko Tanaka, Andrew E. Jaffe, Albert Hofman, Andrew B. Singleton, Jing-Ping Lin, Joshua C. Bis, Santhi K. Ganesh, Christian Gieger, Christa Meisinger, Jaap Jan Zwaginga, Mary Cushman, Matthias Nauck, Aravinda Chakravarti, Gudny Eiriksdottir, Daniel Levy, Kenneth Rice, Swee Lay Thein, Augusto Rendon, Vilmundur Gudnason, Luigi Ferrucci, Frank J. A. van Rooij, Jennifer G. Sambrook, Andreas Greinacher, Dena G. Hernandez, Jacqueline C.M. Witteman, Lenore J. Launer, Qiong Yang, Thor Aspelund, Panos Deloukas, Eric Boerwinkle, Ben A. Oostra, Germaine C. Verwoert, Cornelia M. van Duijn, Albert V. Smith, Thomas Lumley, Anna Köttgen, Nicole L. Glazer, André G. Uitterlinden, Janine M. Vangils, Ming-Huei Chen, Georg Ehret, Janine F. Felix, Mike A. Nalls, Kushang V. Patel, Alexander Teumer, L. Adrienne Cupples, Susan L. Furth, Christopher J. O'Donnell, Josef Coresh, Tim D. Spector, Brigitte Kühnel, Stefania Bandinelli, Neil A. Zakai, Nicole Soranzo, Bruce M. Psaty |
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| Přispěvatelé: | Ehret, Georg Benedikt, Epidemiology, Internal Medicine, Clinical Genetics |
| Rok vydání: | 2009 |
| Předmět: |
Quantitative Trait Loci
Gene Expression Mean corpuscular hemoglobin Genome-wide association study Endothelial Cells/metabolism Biology Quantitative trait locus Hematocrit Polymorphism Single Nucleotide Article Cell Line Cohort Studies 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Genome-Wide Association Study Erythrocytes/metabolism Mean corpuscular volume 030304 developmental biology Genetic association ddc:616 0303 health sciences medicine.diagnostic_test Mean corpuscular hemoglobin concentration Genome Human 3. Good health Blood Pressure/*genetics Phenotype 030220 oncology & carcinogenesis Hypertension/*genetics Hemoglobin |
| Zdroj: | Nature genetics Nature Genetics, Vol. 41, No 11 (2009) pp. 1191-1198 Nature Genetics, 41(11), 1191-U48. Nature Publishing Group |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.466 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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