The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.

@article{Freson2005TheTQ,
  title={The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.},
  author={Kathleen Freson and Rita De Vos and Christine Wittevrongel and Chantal Thys and Johan Defoor and Luc Vanhees and Jos Vermylen and Kathelijne Peerlinck and Christel A Van Geet},
  journal={Blood},
  year={2005},
  volume={106 7},
  pages={2356-62}
}
The discoid form of platelets is maintained by a marginal band of tightly coiled microtubules. beta1-tubulin is the major isoform within platelet and megakaryocyte microtubules. In 24.2% of 33 unrelated inherited macrothrombocytopenia patients and in 10.6% of 272 subjects of a healthy population a P for Q substitution in beta1-tubulin was found in the highly conserved residue 43. Heterozygous carriers of the Q43P variant showed a reduced platelet protein beta1-tubulin expression. Transfection… CONTINUE READING

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