期刊
NATURE GENETICS
卷 41, 期 11, 页码 1191-U48出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.466
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资金
- Medical Research Council [G0000111] Funding Source: Medline
- NHLBI NIH HHS [R01 HL086694, R01 HL086694-03, R01 HL086694-01A1, R01 HL086694-02] Funding Source: Medline
- NIDDK NIH HHS [U01 DK066174, P30 DK063491-049004, P30 DK063491-05, P30 DK063491-029004, P30 DK063491-039004, P30 DK063491, K24 DK078737, P30 DK063491-019004] Funding Source: Medline
- Medical Research Council [G0000111] Funding Source: researchfish
- MRC [G0000111] Funding Source: UKRI
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.
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