Cystic fibrosis heterozygotes do not have increased platelet activation
Tarnow, Inge ; Michelson, Alan D. ; Frelinger, Andrew L. III ; Linden, Matthew Dean ; Li, YouFu ; Fox, Marsha L. ; Barnard, Marc R. ; O'Sullivan, Brian P.
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Keywords
Case-Control Studies
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
*Heterozygote
Humans
Male
Middle Aged
Platelet Activation
Platelets
Cystic fibrosis
Flow cytometry
Cystic fibrosis carriers
Platelet function
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
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Abstract
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.
Source
Thromb Res. 2007;121(2):159-62. Epub 2007 May 29. Link to article on publisher's site