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

Nicole Soranzo, Augusto Rendon, Christian Gieger, Chris I. Jones, Nicholas A. Watkins, Stephan Menzel, Angela Döring, Jonathan Stephens, Holger Prokisch, Wendy Erber, Simon C. Potter, Sarah L. Bray, Philippa Burns, Jennifer Jolley, Mario Falchi, Brigitte Kühnel, Jeanette Erdmann, Heribert Schunkert, Nilesh J. Samani, Thomas IlligStephen F. Garner, Angela Rankin, Christa Meisinger, John R. Bradley, Swee Lay Thein, Alison H. Goodall, Tim D. Spector, Panos Deloukas, Willem H. Ouwehand

Research output: Contribution to journalArticlepeer-review

114 Citations (Scopus)


Mean platelet volume (MPV) and platelet count (PLT) are highly heritable and tightly regulated traits.We performed a genomewide 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 Gallele 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.

Original languageEnglish
Pages (from-to)3831-3837
Number of pages7
Issue number16
Publication statusPublished - 17 Nov 2009
Externally publishedYes


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