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1.
Braz. j. med. biol. res ; 36(7): 919-923, July 2003. tab
Artículo en Inglés | LILACS | ID: lil-340681

RESUMEN

The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2 frequency was considerably lower in the Alzheimer's disease group (1 percent), and the epsilon3 allele and epsilon3/epsilon3 genotype frequencies were higher in the controls (84 and 72 percent, respectively) as were the epsilon4 allele and epsilon3/epsilon4 genotype frequencies in Alzheimer's disease (25 and 41 percent, respectively). The higher frequency of the epsilon4 allele in Alzheimer's disease confirmed its role as a risk factor, while epsilon2 provided a weak protection against development of the disease. However, in view of the unexpectedly low frequency of the epsilon4 allele, additional analyses in a more varied Brazilian sample are needed to clarify the real contribution of apolipoprotein E to the development of Alzheimer's disease in this population


Asunto(s)
Humanos , Masculino , Femenino , Anciano , Apolipoproteínas E , Demencia Vascular , Polimorfismo Genético , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Genotipo , Reacción en Cadena de la Polimerasa , Factores de Riesgo
2.
Braz. j. med. biol. res ; 36(3): 369-375, Mar. 2003. tab
Artículo en Inglés | LILACS | ID: lil-329463

RESUMEN

Studies that consider polymorphisms within the apolipoprotein B (apo B) gene as risk factors for coronary artery disease (CAD) have reported conflicting results. The aim of the present study was to search for associations between two DNA RFLPs (XbaI and EcoRI) of the apo B gene and CAD diagnosed by angiography. In the present study we compared 116 Brazilian patients (92 men) with CAD (CAD+) to 78 control patients (26 men) without ischemia or arterial damage (CAD-). The allele frequencies at the XbaI (X) and EcoRI (E) sites did not differ between groups. The genotype distributions of CAD+ and CAD- patients were different (chi²(1) = 6.27, P = 0.012) when assigned to two classes (X-X-/E+E+ and the remaining XbaI/EcoRI genotypes). Multivariate logistic regression analysis showed that individuals with the X-X-/E+E+ genotype presented a 6.1 higher chance of developing CAD than individuals with the other XbaI/EcoRI genotypes, independently of the other risk factors considered (sex, tobacco consumption, total cholesterol, hypertension, and triglycerides). We conclude that the X-X-/E+E genotype may be in linkage disequilibrium with an unknown variation in the apo B gene or with a variation in another gene that affects the risk of CAD


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Apolipoproteínas B , Enfermedad Coronaria , Desoxirribonucleasa EcoRI , Desoxirribonucleasas de Localización Especificada Tipo II , Polimorfismo Genético , Alelos , Estudios de Casos y Controles , Estudios Transversales , Marcadores Genéticos , Genotipo , Análisis Multivariante , Polimorfismo de Longitud del Fragmento de Restricción , Estudios Prospectivos , Factores de Riesgo
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