eNOS gene affects red cell deformability: Role of T-786C, G894T, and 4a/4b polymorphisms

Cinzia Fatini, Lucia Mannini, Elena Sticchi, Emanuele Cecchi, Alessia Bruschettini, Emanuela Leprini, Paolo Pagnini, Gian Franco Gensini, Domenico Prisco, Rosanna Abbate

Research output: Contribution to journalArticlepeer-review


Plasma viscosity and erythrocyte deformability play a key role in maintaining and regulating microcirculation. In vitro and in vivo studies suggested a role for nitric oxide (NO) in modulating flow-mediated vasodilatation and red blood cell deformability. Impaired NO availability due to mutations in eNOS gene might contribute to the altered haemorheologic state. The aim of this study was to investigate the role of eNOS T-786C, G894T, and 4a/4b polymorphisms in modulating the haemorheologic state in a clinical condition characterized by a microcirculatory disorder. Eighty patients with idiopathic sudden sensorineural hearing loss (ISSHL) and 80 healthy subjects were studied. By using a dominant model of inheritance, we found a significant association between eNOS 894T rare variant and ISSHL (odds ratio [OR] 894TT+GT = 2.08, p = 0.03) after adjustment with traditional vascular risk factors. A higher percentage of altered red cell deformability both in patients and in controls carrying the eNOS rare variants was found in comparison to subjects carrying the wild type. Apart from the disease, eNOS T-786C and G894T polymorphisms independently affected the deformability index (OR, -786CC+TC = 2.81, p = 0.01 and OR, 894TT+GT = 2.5, p = 0.02, respectively), in particular in subjects in whom the contemporary presence of the two rare alleles was observed (OR, -786CC+TC and 894TT+GT combined genotype = 6.9, p

Original languageEnglish
Pages (from-to)481-488
Number of pages8
JournalClinical and Applied Thrombosis/Hemostasis
Issue number4
Publication statusPublished - Oct 2005


  • 4a/4b polymorphisms
  • Blood viscosity
  • eNOS T-786C
  • G894T
  • Haemorheologic state
  • Red cell deformability

ASJC Scopus subject areas

  • Hematology


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