Cystic fibrosis heterozygotes do not have increased platelet activation
Department of Pediatrics
Adult; Case-Control Studies; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; *Heterozygote; Humans; Male; Middle Aged; Platelet Activation
Allergy and Immunology | Amino Acids, Peptides, and Proteins | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Digestive System Diseases | Genetic Phenomena | Hematology | Investigative Techniques | Pediatrics | Respiratory Tract Diseases
INTRODUCTION: We have previously demonstrated platelet hyperreactivity in cystic fibrosis (CF) patients. Carriers of one CF mutation (heterozygotes) have been shown to have abnormalities related to the presence of only one-half the normal amount of CF transmembrane conductance regulator protein. Platelet hyperreactivity in CF heterozygotes would be an important cardiovascular risk factor, since approximately 1 in 25 Caucasians is a CF carrier.
MATERIALS AND METHODS: We used highly sensitive assays of platelet activation to assess the difference between 16 CF heterozygotes and 16 age- and sex-matched healthy controls without CF mutations.
RESULTS: We found no difference in platelet activation between CF heterozygotes and controls.
CONCLUSIONS: The 50% reduction in the CF transmembrane conductance regulator protein in heterozygotes is insufficient to cause platelet activation.
Platelets, Cystic fibrosis, Flow cytometry, Cystic fibrosis carriers, Platelet function
DOI of Published Version
Thromb Res. 2007;121(2):159-62. Epub 2007 May 29. Link to article on publisher's site
Tarnow I, Michelson AD, Frelinger AL, Linden MD, Li Y, Fox ML, Barnard MR, O'Sullivan BP. (2007). Cystic fibrosis heterozygotes do not have increased platelet activation. Pulmonary and Allergy. https://doi.org/10.1016/j.thromres.2007.04.004. Retrieved from https://escholarship.umassmed.edu/peds_pulmonary/16