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Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease.
Armenis, Iakovos; Kalotychou, Vassiliki; Tzanetea, Revekka; Kollia, Panagoula; Kontogeorgiou, Zoi; Anastasopoulou, Dimitra; Mantzourani, Marina; Samarkos, Michael; Pantos, Konstantinos; Konstantopoulos, Kostas; Rombos, Ioannis.
Afiliación
  • Armenis I; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece. Electronic address: iakovosarm@hotmail.com.
  • Kalotychou V; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece.
  • Tzanetea R; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece; Metropolitan Hospital, Athens, Greece.
  • Kollia P; Department of Biology, NKUA, Athens, Greece.
  • Kontogeorgiou Z; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece; Department of Biology, NKUA, Athens, Greece.
  • Anastasopoulou D; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece; Department of Biology, NKUA, Athens, Greece.
  • Mantzourani M; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece.
  • Samarkos M; 1st Department of Internal Medicine, "Laiko" Hospital, NKUA, Medical School, Athens, Greece.
  • Pantos K; Department of Pharmacology, NKUA, Medical School, Athens, Greece.
  • Konstantopoulos K; Department of Hematology, "Laiko" General Hospital, NKUA, Medical School, Athens, Greece.
  • Rombos I; Metropolitan Hospital, Athens, Greece.
Nitric Oxide ; 62: 17-23, 2017 Jan 30.
Article en En | MEDLINE | ID: mdl-27871907
Endothelial Nitric Oxide Synthase (eNOS) is crucial for vascular homeostasis. Polymorphisms T786C and G894T affect eNOS regulation and have been related to various diseases. Sickle Cell Disease (SCD), a clinically diverse chronic hemolytic anemia, implies impaired nitric oxide bioavailability. Our aim was to determine eNOS genotype for T786C and G894T polymorphisms in Greek patients with SCD and to elucidate its consequences and effects if any on clinical phenotype. Seventy nine steady state cases, mostly compound heterozygous for Sickle Cell anemia/beta thalassemia and 48 controls were measured. Peripheral blood DNA was extracted and genotyped with PCR-RFLPs and Sanger sequencing. Total RNA was extracted from 18 patients and 9 controls and eNOS mRNA levels were determined by real-time PCR. Genotypes, allele distribution and eNOS mRNA levels did not differ between patients and controls, or among patients with different beta globin gene mutations. The 786CC genotype was more common in S/S and ß0/S patients with retinopathy. Moreover, 894TT S/S and ß0/S patients tended to have a higher hematocrit than 894GG and GT ones. However, the T786C eNOS genotype does not seem to affect peripheral blood cell-derived eNOS mRNA levels, at least in steady state conditions. This work is the first one describing the effects of eNOS polymorphisms on different forms of SCD, the first enrolling SCD patients of Caucasian origin and the first determining eNOS mRNA levels in peripheral blood from steady-state SCD patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Óxido Nítrico Sintasa de Tipo III / Anemia de Células Falciformes Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Aspecto: Patient_preference Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Nitric Oxide Asunto de la revista: BIOQUIMICA / QUIMICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Óxido Nítrico Sintasa de Tipo III / Anemia de Células Falciformes Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Aspecto: Patient_preference Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Nitric Oxide Asunto de la revista: BIOQUIMICA / QUIMICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos