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 Blood, 16 April 2009, Vol. 113, No. 16, pp. 3831-3837.
Prepublished online as a Blood First Edition Paper on February 12, 2009; DOI 10.1182/blood-2008-10-184234.

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PLATELETS AND THROMBOPOIESIS

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

Nicole Soranzo1,2,*, Augusto Rendon3,*, Christian Gieger4,*, Chris I. Jones5, Nicholas A. Watkins3, Stephan Menzel6, Angela Döring4, Jonathan Stephens3, Holger Prokisch7,8, Wendy Erber3,9, Simon C. Potter1, Sarah L. Bray10, Philippa Burns3, Jennifer Jolley3, Mario Falchi2,11, Brigitte Kühnel4, Jeanette Erdmann12, Heribert Schunkert12, Nilesh J. Samani13, Thomas Illig4, Stephen F. Garner3, Angela Rankin3, Christa Meisinger4, John R. Bradley14, Swee Lay Thein6, Alison H. Goodall13, Tim D. Spector2,{dagger}, Panos Deloukas1,{dagger}, and Willem H. Ouwehand1,3,{dagger}

1 Human Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; 2 Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom; 3 Department of Haematology, University of Cambridge and National Health Service (NHS) Blood and Transplant, Cambridge, United Kingdom; 4 Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; 5 School of Biological Sciences, University of Reading, Reading, United Kingdom; 6 Molecular Haematology, King's College London, London, United Kingdom; 7 Institute of Human Genetics, Technical University Munich, Munich, Germany; 8 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; 9 Haematology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 10 Medical Research Council (MRC) Biostatistics Unit, University Forvie Site, Cambridge, United Kingdom; 11 Genomic Medicine, Imperial College London, London, United Kingdom; 12 Medizinische Klinik II, Universität zu Lübeck, Lübeck, Germany; 13 Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom; and 14 Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, United Kingdom

Mean platelet volume (MPV) and platelet count (PLT) are highly heritable and tightly regulated traits. We performed a genome-wide association study for MPV and identified one SNP, rs342293, as having highly significant and reproducible association with MPV (per-G allele effect 0.016 ± 0.001 log fL; P < 1.08 x 10–24) and PLT (per-G effect –4.55 ± 0.80 109/L; P < 7.19 x 10–8) in 8586 healthy subjects. Whole-genome expression analysis in the 1-MB region showed a significant association with platelet transcript levels for PIK3CG (n = 35; P = .047). The G allele at rs342293 was also associated with decreased binding of annexin V to platelets activated with collagen-related peptide (n = 84; P = .003). The region 7q22.3 identifies the first QTL influencing platelet volume, counts, and function in healthy subjects. Notably, the association signal maps to a chromosome region implicated in myeloid malignancies, indicating this site as an important regulatory site for hematopoiesis. The identification of loci regulating MPV by this and other studies will increase our insight in the processes of megakaryopoiesis and proplatelet formation, and it may aid the identification of genes that are somatically mutated in essential thrombocytosis.


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