Navegando por Palavras-chave "single nucleotide polymorphism"

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    Association of the CYP17 gene polymorphism with risk for uterine leiomyoma in Brazilian women
    (Informa Healthcare, 2008-01-01) Vieira, Lucinda Coelho Esperança [UNIFESP]; Gomes, Mariano Tamura Vieira [UNIFESP]; Castro, Rodrigo de Aquino [UNIFESP]; Nogueira-de-Souza, Naiara Corrêa [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Baracat, Edmund Chada [UNIFESP]; Girão, Manoel João Batista Castello [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Background. Uterine leiomyoma is the most common pelvic tumor in women of reproductive age. It is well established that endogenous sex hormones are involved in disease pathogenesis, and polymorphisms in genes encoding enzymes which act in the metabolism of steroid hormones, such as that for cytochrome P450c17 enzyme (CYP17), may therefore play a role in fibroid genesis. Variations in this gene have been thought to influence the susceptibility to hormone-related diseases. A single nucleotide polymorphism (T -> C) [rs1042386] in promoter region of CYP17 may alter its transcription. the present study was conducted to investigate the association between this polymorphism and the presence of uterine leiomyoma in Brazilian women.Methods. Genotyping of CYP17 was performed in 121 uterine fibroid patients and 120 unaffected women, using polymerase chain reaction and restriction fragment-length polymorphism analysis.Results. No significant difference in the CYP17 genotype distribution was noted between cases and controls (p=0.165). Conclusion. These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.
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    Determinação da frequência alélica de polimorfismos de nucleotídeo único e análise de sua aplicação clínica na monitorização de quimerismo pós transplante de células hematopoéticas
    (Universidade Federal de São Paulo (UNIFESP), 2013-07-31) Azevedo, Marily Maria de [UNIFESP]; Figueiredo, Maria Stella Figueiredo [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    The chimerism analysis has become a routine procedure after Allogeneic Hematopoietic Stem Cell transplantation (HSCT) for early detection of relapse or graft failure. In recent years, various techniques have been described to evaluate chimerism. The basic principle of its detection is the utilization of differences between recipient and donor genomes. The most commonly used method is based on amplification of small tandem repeats (STR), with sensitivity ranging from 1 to 5%. This method is useful for documenting graft, but it is not sufficient for the detection of minimal residual disease or early relapse; situations where medical intervention is urgently needed. Currently, the Single Nucleotide Polymorphisms (SNPs) appear to be useful as molecular markers for monitoring chimerism after HSCT due to their stability, specificity and can be analyzed using quantitative methods sensitive. Objectives: 1. To determine the frequency of 12 polymorphisms in the Brazilian population to use them as a basis in developing an informative panel for chimerism analysis. 2. To realize a comparative analysis of techniques, such as STR, TaqMan qPCR and LNA, for identification and quantification of SNPs performed on samples from Brazilian and Canadian populations. Methods: Analyses of allele frequencies of SNPs rs668, rs5984, rs1800734 and rs1799854 were performed by allele-specific PCR (ASO-PCR) in the Brazilian population. SNPs rs4880, rs2269848, rs163781, rs10757713, rs1432622, rs713503, rs2296600 and rs715463 were performed with TaqMan methodology (MGB) and LNA. Chimerism analysis techniques were performed used STR, TaqMan (MGB) and LNA. Results and Discussion: The SNPs analysis showed an allele frequency of approximately 50% for the ancestral allele for each SNP in the Brazilian and Canadian populations, suggesting this panel can be useful in the analysis of chimerism. However, more studies are needed to determine the informativity of this panel. Specific SNPs analysis using TaqMan technology (MGB) have proved to be useful in determining chimerism, despite initial difficulties for determine an informative panel. The LNA technology initially proved to be more sensitive and specific technique, however, its reproducibility was not effective. Typical assays for chimerism analysis are expensive and time consuming. Variations can occur between SNPs, so each SNP needs to be validated individually before its clinical application. TaqMan MGB technique was considered the best option to save time and money compared to LNA and STR. Conclusions: Despite its cost and time spent for its execution, STR is the gold standard test to monitor chimerism after HSCT mainly due to be commercially available. The studied SNPs appear to be useful as molecular markers for monitoring chimerism after HSCT due to the allele frequency presented. Genotyping using qPCR assay has the potential to reduce time and medical costs, important factors in developing countries, such as Brazil.
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    Influência do polimorfismo -174 g/c do gene promotor da interleucina-6 no controle clinico da polipose nasossinusal
    (Universidade Federal de São Paulo (UNIFESP), 2014-11-28) Hirai, Elcio Roldan [UNIFESP]; Kosugi, Eduardo Macoto Kosugi [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Introduction: Nasal polyposis (NP) is a chronic inflammatory disease, which depends on several inflammatory mediators, especially, the interleukin-6 (IL-6). IL-6 -174 G/C promoter gene polymorphism can determine different cytokine profiles regulations which could influence the clinical spectrum from this disease. Aim: To evaluate the influence of IL-6 -174 G/C promoter gene polymorphism on current clinical control of NP. Methods: Cross-sectional study with 47 NP patients with IL-6 genotyping. Clinical control of disease parameters were assessed, like symptoms, oral medication use, SNOT-22 scores, endoscopic status and clinical control of disease status. Results: GG genotype had 30 individuals; GC genotype, 17. Both groups presented similar distribution of age, gender, previous surgery, and comorbidities. Clinical control of disease parameters were not different between groups. Conclusion: IL-6 -174 G/C promoter gene polymorphism did not seemed to lead to a worse clinical control of nasal polyposis.
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    Interleukin-6-174 G/C promoter gene polymorphism in nasal polyposis and asthma
    (Int Rhinologic Soc, 2013-03-01) Kosugi, Eduardo Macoto [UNIFESP]; De Camargo-Kosugi, Cintia Meirelles [UNIFESP]; Hirai, Elcio Roldan [UNIFESP]; Mendes Neto, José Arruda [UNIFESP]; Gregario, Luis Carlos [UNIFESP]; Cotrim Guerreiro-Da-Silva, Ismael Dale [UNIFESP]; Weckx, Luc Louis Maurice [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Background: Interleukin-6 (IL-6) is an inflammatory mediator linked to nasal polyposis and asthma, with a single nucleotide polymorphism - 174 G/C that seems to promote an inflammatory status. We aimed to analyze the relationship between this polymorphism and asthmatic nasal polyposis patients.Methodology: Cross-sectional study to investigate IL-6 - 174 G/C genotypes of 45 nasal polyposis with asthma patients, 63 nasal polyposis-only patients, 45 asthma-only patients and 81 subjects without both diseases. Aspirin intolerance and atopy were main exclusion criteria. IL-6 genotyping was performed using the PCR method with specific primers followed by restriction enzyme analysis, classifying patients in GG, GC or CC genotype.Results: the GG genotype was the most frequent in all inflammatory groups. Less than 40% of controls presented with the GG genotype. There were significant differences between inflammatory groups and control group. No significant differences were seen when comparing inflammatory groups to each other, other than between nasal polyposis-only group and asthma-only group.Conclusion: the IL-6 74 GG genotype was found more frequently in all inflammatory groups than in controls. This genotype could influence nasal polyposis and asthma, and seems to be more important in the latter.
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    Interleukin-6-174 G/C promoter polymorphism and nasal polyposis
    (Int Rhinologic Soc, 2009-12-01) Kosugi, Eduardo Macoto [UNIFESP]; Camargo-Kosugi, Cintia Meirelles de [UNIFESP]; Maurice Weckx, Luc Louis [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Gregorio, Luiz Carlos [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Introduction: Nasal polyposis is a chronic disease with unknown etiopathogenesis, although inflammatory mechanisms seem to play a role. One of several inflammatory mediators linked to nasal polyposis is Interleukin-6, which has a single. nucleotide polymorphism -174 G/C that seems to promote an inflammatory reaction.Objective: To compare the prevalence of the -174 G/C single nucleotide polymorphism between a group of patients with nasal polyposis and a control group.Method. Cross-sectional study with two groups (thirty two patients with nasal polyposis and fifty five controls) to investigate the -174 G/C polymorphism in blood samples. Asthma, aspirin intolerance and atopy were main exclusion criteria. IL-6 genotyping was performed using the PCR method with forward primer 5'-ATGCCAAGTGCTGAGTCACTA-3' and reverse primer 5'-GGAAAATCCCACATTTGATA-3', amplifying a 226-bp DNA fragment that contained the 174 position. The amplified fragment can be cleaved by restriction enzyme NlaIII when the -174 position presented the C allele in two fragments of 117 and 109-bp, visualized by electrophoresis, classifying participants in GG, GC and CC.Results: In the nasal polyposis group, 65.62% of the patients had the GG genotype, while in the control group only 41.82% had the GG genotype, a statistically significant difference, with an odds ratio of 2.65.Conclusion: The -174 GG genotype was found more frequency in nasal polyposis patients than in controls, when asthma, aspirin intolerance and atopy were excluded.
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    A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes
    (Elsevier B.V., 2004-08-01) Reis, A. F.; Dubois-Laforgue, D.; Bellanne-Chantelot, C.; Timsit, J.; Velho, G.; Hop St Vincent de Paul; Universidade Federal de São Paulo (UNIFESP); Hop Cochin; Hop St Antoine
    A G/A single nucleotide polymorphism (SNP) in the position -866 of the UCP2 promoter modulates UCP2 expression in adipose tissue and pancreatic beta-cell, and is associated with variations of body mass index (BMI) and insulin secretion in nondiabetic subjects. We investigated associations of this SNP with traits related to obesity, dyslipidemia, and hyperglycemia in patients with type 2 diabetes. the -866 G/A SNP in the UCP2 promoter was genotyped by PCR/RFLP in 681 type 2 diabetic patients. Increased triglyceride (greater than or equal to1.70mM), total cholesterol (greater than or equal to6.0mM) and LDL-cholesterol (greater than or equal to3.35mM) levels were significantly less frequent in homozygous carriers of the G-allele than in homozygous carriers of the A-allele. Odds ratios for the risk of dyslipidemia in GG vs AA carriers were 0.45, 0.57, and 0.50, for triglyceride, total cholesterol and LDL-cholesterol, respectively (all p < 0.007). No genetic effects of this polymorphism on the BMI or on traits related to the severity of hyperglycemia were observed. in conclusion, a common polymorphism in the promoter region of the UCP2 gene modulates triglycerides and cholesterol levels in French Caucasian subjects with type 2 diabetes. the implications of this effect in the evolution of type 2 diabetes and its macrovascular complications deserve to be investigated. (C) 2004 Elsevier Inc. All rights reserved.