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

Blood. 2005 Oct 1;106(7):2356-62. doi: 10.1182/blood-2005-02-0723. Epub 2005 Jun 14.

Abstract

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 of green fluorescent protein (GFP)-tagged Q43P beta1-tubulin in megakaryocytic MEG01 cells resulted in a disturbed tubulin organization. Electron microscopy revealed enlarged spherocytic platelets with a disturbed marginal band and organelle-free zones. In addition, platelets with the Q43P beta1-tubulin variant had reduced adenosine triphosphate (ATP) secretion, thrombin receptor activating peptide (TRAP)-induced aggregation and collagen adhesion. The prevalence of the Q43P beta1-tubulin variant was also 2 times higher (odds ratio, [OR] = 2.1;95% confidence interval [CI], 1.22-3.59) among control subjects than among patients with cardiovascular disease (10.4% versus 5.2%, P < .001). By analyzing this protective factor in men and women separately, this association was only found in men. This study thus presents the functional consequences of the platelet Q43P beta1-tubulin substitution that is frequent in the healthy population and may protect men against arterial thrombosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Adult
  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Blood Platelets / cytology*
  • Blood Platelets / physiology
  • Blood Platelets / ultrastructure
  • Cardiovascular Diseases / blood*
  • Cardiovascular Diseases / genetics*
  • Cell Adhesion
  • Collagen / metabolism
  • DNA Mutational Analysis
  • DNA, Complementary / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Green Fluorescent Proteins / metabolism
  • Heterozygote
  • Humans
  • Immunoblotting
  • Male
  • Megakaryocytes / metabolism
  • Microscopy, Electron
  • Microscopy, Phase-Contrast
  • Middle Aged
  • Molecular Sequence Data
  • Odds Ratio
  • Perfusion
  • Platelet Adhesiveness
  • Polymorphism, Genetic*
  • Protein Isoforms
  • Sex Factors
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics*
  • Thrombosis / genetics
  • Thrombosis / prevention & control
  • Transfection
  • Tubulin / genetics*
  • Tubulin / physiology

Substances

  • DNA, Complementary
  • Protein Isoforms
  • TUBB1 protein, human
  • Tubulin
  • Green Fluorescent Proteins
  • Adenosine Triphosphate
  • Collagen