Titre du document / Document title

Association of NOS3 gene with metabolic syndrome in hypertensive patients

Auteur(s) / Author(s)

FERNANDEZ Maria Luisa ⁽¹⁾ ; RUIZ Rocio ⁽²⁾ ; GONZALEZ Maria Angeles ⁽¹⁾ ; RAMIREZ-LORCA Reposo ⁽²⁾ ; COUTO Carmen ⁽³⁾ ; RAMOS Antonio ⁽¹⁾ ; GUTIERREZ-TOUS Reyes ⁽³⁾ ; RIVERA Jose Maria ⁽¹⁾ ; RUIZ Agustin ⁽²⁾ ; REAL Luis Miguel ⁽²⁾ ; GRILO Antonio ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Servicio de Medicina Interna, Hospital de Valme, Seville, ESPAGNE
⁽²⁾ Dpto. de Genómica Estructural, Neocodex, Seville, ESPAGNE
⁽³⁾ Servicio de Hematologia, Hospital de Valme, Seville, ESPAGNE

Résumé / Abstract

Recent data from animal models indicate that the eNOS null mice present a phenotype that resemble the human metabolic syndrome (hypertension, insulin resistance and hypertriglyceridemia). In this work, we have studied whether NOS3 gene, previously related to endothelial dysfunction, might have a role in metabolic syndrome susceptibility in hypertensive patients. To carry out the study, we genotyped 105 hypertensive patients < 60 years old with two polymorphisms of NOS3 gene: 1132 T>C and 7164 G>T (GeneBank:AF519768.).To check the allelic frequency of these polymorphisms in our geographical area, we also genotyped 94 unselected healthy controls (control group). To perform sample genotyping, we designed a novel FRET system coupled to real time PCR.There were no differences in genotypic distribution or allelic frequency between hypertensive patients and the control group. However, we observed that 786CC genotype was significantly more frequent in hypertensive patients with metabolic syndrome than in those without the syndrome (p=0.0022).When both polymorphisms were analyzed, we identified the 786C894G as the risk haplo-type for metabolic syndrome susceptibility (p=0.011). These data suggest a role of the NOS3 gene in the pathogenesis of metabolic syndrome in hypertensive patients.

Revue / Journal Title

Thrombosis and haemostasis   ISSN 0340-6245   CODEN THHADQ 

Source / Source

2004, vol. 92, n^o2, pp. 413-418 [6 page(s) (article)] (40 ref.)

Langue / Language

Anglais

Editeur / Publisher

Schattauer, Stuttgart, ALLEMAGNE  (1976) (Revue)

Mots-clés anglais / English Keywords

Metabolic diseases ; Endocrinopathy ; Cardiovascular disease ; Genetic variability ; Polymorphism ; Human ; Hypertension ; Genetics ; Gene ; X Syndrome ;

Mots-clés français / French Keywords

Métabolisme pathologie ; Endocrinopathie ; Appareil circulatoire pathologie ; Variabilité génétique ; Polymorphisme ; Homme ; Hypertension artérielle ; Génétique ; Gène ; X Syndrome ;

Mots-clés espagnols / Spanish Keywords

Metabolismo patología ; Endocrinopatía ; Aparato circulatorio patología ; Variabilidad genética ; Polimorfismo ; Hombre ; Hipertensión arterial ; Genética ; Gen ; X Síndrome ;

Mots-clés d'auteur / Author Keywords

NOS3 ; polymorphism ; genetics ; metabolic syndrome ; hypertension ;

Localisation / Location

INIST-CNRS, Cote INIST : 10255, 35400011617744.0220