Article
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.
Blood - 16 Apr 2009
Soranzo Nicole, Rendon Augusto, Gieger Christian, Jones Chris I, Watkins Nicholas A, Menzel Stephan, Döring Angela, Stephens Jonathan, Prokisch Holger, Erber Wendy, Potter Simon C, Bray Sarah L, Burns Philippa, Jolley Jennifer, Falchi Mario, Kühnel Brigitte, Erdmann Jeanette, Schunkert Heribert, Samani Nilesh J, Illig Thomas, Garner Stephen F, Rankin Angela, Meisinger Christa, Bradley John R, Thein Swee Lay, Goodall Alison H, Spector Tim D, Deloukas Panos, Ouwehand Willem H
Abstract excerpt
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 10(9)/L; P < 7.19 x 10(-8)) in 8586 healthy subjects....
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