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Master's Dissertation
DOI
https://doi.org/10.11606/D.9.2017.tde-28112017-103910
Document
Author
Full name
Érika Miguel de Souza
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2006
Supervisor
Committee
Hirata, Mario Hiroyuki (President)
Castilho, Lucia Nassi
Maria-Engler, Silvya Stuchi
Title in Portuguese
Avaliação dos polimorfismos L55M e Q192R do gene PON1 e do polimorfismo 5311C do gene PON2 na doença arterial coronariana em adultos jovens
Keywords in Portuguese
Adultos
Doenças cardiovasculares (Etiologia; Fisiopatologia)
Genética
Lipoproteínas
Polimorfismo (Avaliação)
Abstract in Portuguese
O efeito anti-aterogênico da HDL foi sugerido ser devido, parcialmente, à ação da paraoxonase (PON) associada à HDL. Três SNPs em PON1 (L55M e Q192R) e PON2 (S311C) têm sido implicados como fatores de risco independentes para doença arterial coronariana (DAC) em alguns, mas não todos os estudos. O efeito destes três polimorfismos do gene PON na DAC e na concentração sérica de lipídios, apolipoproteínas A-I e B (apo A-I e apo B) foi investigado em 221 indivíduos sem vínculos genéticos. Os três polimorfismos genéticos (L55M, Q192R e S311C) do gene PON foram analisados por PCR-RFLP. Não houve diferença entre a distribuição genotípica e a freqüência relativa dos alelos dos polimorfismos L55M, Q192R e S311C do gene PON entre pacientes e controles. Não houve associação entre os polimorfismos da PON e a DAC na população estudada. As freqüências dos haplótipos dos pacientes foram similares às encontradas no grupo controle. O polimorfismo L55M do gene PON1 está associado com variações na concentração sérica de apo A-I dos pacientes. O polimorfismo S311C do gene PON2 não está associado com variações na concentração sérica de lipídios, apo A-I e apo B dos pacientes.
Title in English
Assessment of the L55M and Q192R polimorfisms of the PON1 gene and 5311C polimorfism of the gene PON2 in the coronary artery disease in young adults
Keywords in English
Adults
Cardiovascular diseases (Etiology; Pathophysiology)
Genetics
Lipoproteins
Polymorphism (Evaluation)
Abstract in English
The anti-atherogtenic effect of the HDL has been suggested to be due, partially, to the action of the HDL-associated paroxonase(PON). Three SNPs in PON1 (L55M e Q192R) and PON2 (S311C) have been involved as independent risk factors for coronary artery disease (CAD), in some, but not all studies. The effect of these three polymorphisms of the PON gene on CAD and on the levei of lipids, apolipoproteins A-I e B (apo A1 and apo B) was investigated in 221 genetically unrelated individuais. The three gene polymorphismis (L55M, Q192R e S311C) of the PON gene were analyzed by PCR-RFLP. Is no significant difference between distribuition of genotype and allele frequencies of the L55M, Q192R and S311C polymorfisms of the PON gene between patient group and controls. Is no association between polymorphisms of the PON gene and CAD in the population studied. The frequencies of the haplotypes in the patients were similar to those found in the control group. The L55M polymorphism of the PON1 gene is associated with variations of the level of polipoprotein A-I at patients. The S311C polymorphism of the PON2 is not associated with variations of the level of lipids, apo A-I and apo B at patients.
 
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Publishing Date
2017-11-28
 
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