ArticleMayo Clinic proceedings2012
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.
Article in Mayo Clinic proceedings, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 47 citations in OpenAlex.
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- Opposing effects on the cell cycle of T lymphocytes by Fbxo7 via Cdk6 and p27.Cellular and molecular life sciences : CMLS · 2017Article
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- Defective erythropoiesis in a mouse model of reduced Fbxo7 expression due to decreased p27 expression.The Journal of pathology · 2015Article
- Return of results in the genomic medicine projects of the eMERGE network.Frontiers in genetics · 2014Article
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- The extrahepatic role of TFR2 in iron homeostasis.Frontiers in pharmacology · 2014Review
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Corrections and comments
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
Abstract
objectiveTo identify common genetic variants influencing red blood cell (RBC) traits. PATIENTS AND
methodsWe performed a genomewide association study from June 2008 through July 2011 of hemoglobin, hematocrit, RBC count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration in 12,486 patients of European ancestry from the electronic MEdical Records and Genomics (eMERGE) network. We developed an electronic medical record-based algorithm that included individuals who had RBC measurements obtained for clinical care and excluded values measured in the setting of hematopoietic disorders, comorbid conditions, or medications known to affect RBC production or a recent history of blood loss.
resultsWe identified 4 new genetic loci and replicated 11 loci previously reported to be associated with one or more RBC traits in individuals of European ancestry. Notably, genes present in 3 of the 4 newly identified loci (THRB, PTPLAD1, CDT1) and in 6 of the 11 replicated loci (KLF1, ALDH8A1, CCND3, SPTA1, FBXO7, TFR2/EPO) are implicated in erythroid differentiation and regulation of cell cycle in hematopoietic stem cells.
conclusionGenes in the erythroid differentiation and cell cycle regulation pathways influence interindividual variation in RBC indices. Our results provide insights into the molecular basis underlying variation in RBC traits.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.