Navegando por Palavras-chave "genetic polymorphisms"

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    Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease
    (Wiley-Blackwell, 2010-02-01) Marques Souza Oliveira, Claudia Pinto; Stefano, Jose Tadeu; Cavaleiro, Ana Mercedes; Henriques Zanella Fortes, Maria Angela; Vieira, Suzana Maria; Rodrigues Lima, Vicencia Mara; Santos, Telma Eugenio; Santos, Virginia Nascimento [UNIFESP]; Farias de Azevedo Salgado, Ana Lucia [UNIFESP]; Parise, Edson Roberto [UNIFESP]; Ferreira Alves, Venancio Avancini; Carrilho, Flair Jose; Correa-Giannella, Maria Lucia; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
    Background and Aims: Although the metabolic risk factors for non-alcoholic fatty liver disease (NAFLD) progression have been recognized, the role of genetic susceptibility remains a field to be explored. the aim of this study was to examine the frequency of two polymorphisms in Brazilian patients with biopsy-proven simple steatosis or non-alcoholic steatohepatitis (NASH): -493 G/T in the MTP gene, which codes the protein responsible for transferring triglycerides to nascent apolipoprotein B, and -129 C/T in the GCLC gene, which codes the catalytic subunit of glutamate-cystein ligase in the formation of glutathione.Methods: One hundred and thirty-one biopsy-proven NAFLD patients (n = 45, simple steatosis; n = 86, NASH) and 141 unrelated healthy volunteers were evaluated. Genomic DNA was extracted from peripheral blood cells, and the -129 C/T polymorphism of the GCLC gene was determined by restriction fragment length polymorphism (RFLP). the -493 G/T polymorphism of the MTP gene was determined by direct sequencing of the polymerase chain reaction products.Results: the presence of at least one T allele in the -129 C/T polymorphism of the GCLC gene was independently associated with NASH (odds ratio 12.14, 95% confidence interval 2.01-73.35; P = 0.007), whereas, the presence of at least one G allele in the -493 G/T polymorphism of the MTP gene differed slightly between biopsy-proven NASH and simple steatosis.Conclusion: This difference clearly warrants further investigation in larger samples. These two polymorphisms could represent an additional factor for consideration in evaluating the risk of NAFLD progression. Further studies involving a larger population are necessary to confirm this notion.
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    Haplotypes of alpha-globin gene regulatory element in two Brazilian native populations
    (Wiley-Blackwell, 2003-05-01) Ribeiro, D. M.; Figueiredo, M. S.; Costa, F. F.; Sonati, M. F.; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    The alpha-major regulatory element (alpha-MRE), located 40 Kb far upstream of the alpha-globin gene cluster on chromosome 16, is involved in the regulation of human at-globin genes expression. the activity of this element is restricted to a 350-bp fragment in which several nuclear protein binding sites have been identified. This element is genetically polymorphic and different haplotypes, named A-F, have been determined in seven populations of Europe, Africa, Asia, and Oceania. We describe here the alpha-MRE haplotypes found in native Indians from two non-miscegenated tribes of the north region of Brazil, in Amazonia, the Parakana and the Xikrin. the A haplotype was predominant in both (70% and 87%, respectively), followed by the B haplotype (30% and 13%, respectively). the haplotype frequency distribution among the Parakana was similar to that reported for Indonesians and Southeast Asian populations, while the distribution among the Xikrin showed higher similarity to that observed in Indonesians. These results corroborate the existence of genetic affinities between Brazilian Indians and Southeast Asian and Oceanic populations. This was the first investigative work on the alpha-MRE polymorphism in South American native populations in general or Brazilian native populations in particular. (C) 2003 Wiley-Liss, Inc.
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    Risk factors, biochemical markers, and genetic polymorphisms in early coronary artery disease
    (Sociedade Brasileira de Cardiologia - SBC, 2003-04-01) Izar, Maria Cristina de Oliveira [UNIFESP]; Fonseca, Francisco Antonio Helfenstein [UNIFESP]; Ihara, Silvia Saiuli Miki [UNIFESP]; Kasinski, Nelson [UNIFESP]; Sang, Won Han [UNIFESP]; Lopes, Ieda Edite Lanzarini [UNIFESP]; Pinto, Leonor do Espírito Santo de Almeida [UNIFESP]; Relvas, Waldir Gabriel Miranda [UNIFESP]; Lourenco, Dayse Maria [UNIFESP]; Tufik, Sergio [UNIFESP]; De Paola, Angelo Amato Vincenzo [UNIFESP]; Carvalho, Antonio Carlos [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    OBJECTIVE: To assess the risk factors, lipid and apolipoprotein profile, hemostasis variables, and polymorphisms of the apolipoprotein AI-CIII gene in early coronary artery disease (CAD). METHODS: Case-control study with 112 patients in each group controlled by sex and age. After clinical evaluation and nutritional instruction, blood samples were collected for biochemical assays and genetic study. RESULTS: Familial history of early CAD (64 vs 39%), arterial hypertension (69 vs 36%), diabetes mellitus (25 vs 3%), and previous smoking (71 vs 46%) were more prevalent in the case group (p<0.001). Hypertension and diabetes were independent risk factors. Early CAD was characterized by higher serum levels of total cholesterol (235 ± 6 vs 209 ± 4 mg/dL), of LDL-c (154 ± 5 vs 135 ± 4 mg/dL), triglycerides (205 ± 12 vs 143 ± 9 mg/dL), and apolipoprotein B (129 ± 3 vs 105 ± 3 mg/dL), and lower serum levels of HDL-c (40 ± 1 vs 46 ± 1 mg/dL) and apolipoprotein AI (134 ± 2 vs 146 ± 2mg/dL) [p<0.01], in addition to an elevation in fibrinogen and D-dimer (p<0.02). The simultaneous presence of the rare alleles of the APO AI-CIII genes in early CAD are associated with hypertriglyceridemia (p=0.03). CONCLUSION: Of the classical risk factors, hypertension and diabetes mellitus were independently associated with early CAD. In addition to an unfavorable lipid profile, an increase in the thrombotic risk was identified in this population. An additive effect of the APO AI-CIII genes was observed in triglyceride levels.