Ganesh Santhi K, Zakai Neil A, van Rooij Frank J A, Soranzo Nicole, Smith Albert V, Nalls Michael A, Chen Ming-Huei, Kottgen Anna, Glazer Nicole L, Dehghan Abbas, Kuhnel Brigitte, Aspelund Thor, Yang Qiong, Tanaka Toshiko, Jaffe Andrew, Bis Joshua C M, Verwoert Germaine C, Teumer Alexander, Fox Caroline S, Guralnik Jack M, Ehret Georg B, Rice Kenneth, Felix Janine F, Rendon Augusto, Eiriksdottir Gudny, Levy Daniel, Patel Kushang V, Boerwinkle Eric, Rotter Jerome I, Hofman Albert, Sambrook Jennifer G, Hernandez Dena G, Zheng Gang, Bandinelli Stefania, Singleton Andrew B, Coresh Josef, Lumley Thomas, Uitterlinden André G, Vangils Janine M, Launer Lenore J, Cupples L Adrienne, Oostra Ben A, Zwaginga Jaap-Jan, Ouwehand Willem H, Thein Swee-Lay, Meisinger Christa, Deloukas Panos, Nauck Matthias, Spector Tim D, Gieger Christian, Gudnason Vilmundur, van Duijn Cornelia M, Psaty Bruce M, Ferrucci Luigi, Chakravarti Aravinda, Greinacher Andreas, O'Donnell Christopher J, Witteman Jacqueline C M, Furth Susan, Cushman Mary, Harris Tamara B, Lin Jing-Ping
National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA.
Nat Genet. 2009 Nov;41(11):1191-8. doi: 10.1038/ng.466. Epub 2009 Oct 11.
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.
血液中红细胞的测量是重要的临床特征，可指示各种血液系统疾病。我们在此报告了针对六种红细胞特征的全基因组关联研究（GWAS），这些特征包括血红蛋白浓度（Hb）、血细胞比容（Hct）、平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、平均红细胞血红蛋白浓度（MCHC）和红细胞计数（RBC）。我们在CHARGE联盟的队列中对总共24167名欧洲血统个体进行了初步GWAS，并在HaemGen联盟的另外9456名个体的独立队列中进行了重复验证。在对发现队列和重复验证队列的荟萃分析中，我们确定了23个与这些特征显著相关的基因座（合并P值范围为5×10⁻⁸至7×10⁻⁸⁶）。我们的发现包括先前与这些特征相关的基因座（HBS1L-MYB、HFE、TMPRSS6、TFR2、SPTA1）以及新的关联（EPO、TFRC、SH2B3和其他15个基因座）。这项研究确定了红细胞特征的新决定因素，为红细胞测量变异背后的常见变异提供了见解。
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