RESUMEN
BACKGROUND: Apelin and apelin receptor (APLN/APLNR) are involved in the retinal neovascularization of diabetic retinopathy (DR). METHODS: This study investigated the impact of the APLNR A445C variant on the risk of DR in a sample of the Tunisian population (100 patients with DR and 105 healthy controls) using PCR-RFLP. RESULTS: The genotype frequencies of the APLNR A445C variant were not significantly different between the patient and control groups. The genotype was not associated with DR (OR = 1.49; 95% CI [0.49 - 4.48], p = 0.47 for the AC heterozygous genotype and OR = 1.57; 95% CI [0.43 - 5.71], p = 0.49 for the CC homozygous genotype). Furthermore, the clinical and biochemical parameters according to the APLNR A445C genotypes revealed that only total cholesterol (TC) was significantly higher in the DR group with the CC genotype compared to the AA genotype (p < 0.02). CONCLUSIONS: The APLNR A445C polymorphism was not associated with DR in a sample of the Tunisian population, but the CC genotype carrier patients with DR had a high TC concentration.
Asunto(s)
Receptores de Apelina/genética , Retinopatía Diabética/genética , Variación Genética , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Colesterol/sangre , Retinopatía Diabética/sangre , Retinopatía Diabética/diagnóstico , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Heterocigoto , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Fenotipo , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , TúnezRESUMEN
Cystic fibrosis was regarded a long time as exceptional in the Nord Africaine population and in particular in Tunisia what was at the origin of the ignorance of its various diagnostic and therapeutic aspects in our country. Nevertheless, with the development of the means of the diagnosis, several cases of cystic fibrosis were diagnosed these last years what will pose true problems of assumption of responsibility of these children like illustrates it well our experiment in the pediatric department of Sfax university hospital. In 10 years going of 1991 to 2000 we reported 7 cases of cystic fibrosis in the pediatric department of Sfax university hospital. Our patients are 3 boys and 4 girls. The age of revelation of the disease varied from 3 months to 14 years with 4 years and 10 months an average age. All our patients had a respiratory symptomatology in the foreground. The evolution was marked by the death of 4 patients at an average age of 5 years and half whereas the 3 surviving patients for the moment are more or less balanced on the nutritional level, digestive and respiratory. Cystic fibrosis is not exceptional in our area, its assumption of responsibility therapeutic is difficult, and it requires the collaboration of several experts and a good compliance of the child and of his family.