ABSTRACT
Abstract Objective The present study aimed to evaluate the relationship between UGT1A1*28 gene polymorphism and the prevalence of neutropenia in patients with colorectal cancer treated with irinotecan. Method Thirteen studies were included. These papers were selected from the Virtual Health Library, Scientific Electronic Library Online, International Health Sciences Literature and PubMed, and their data were collected and evaluated using the BioEstat 5.3 software (BioEstat, Belém, PA, Brazil). Results Three genotypes were analyzed, namely 6/6 (wild type), 6/7, and 7/7. In total, 2,146 patients were included in the present study; of these, 55.6% (n=1,193) had 6/6 genotype, 37.3% (n=801) were heterozygous (6/7), and 7.1% (n=152) had the 7/7 genotype. A total of 1,672 (77.9%) patients displayed mild neutropenia, whereas 474 (22.1%) had severe neutropenia. When contrasting the 6/7 and 7/7 genotypes with the 6/6 genotype using statistical tests for meta-analysis, patients with the 7 allele, either Conclusion The analysis of the UGT1A1*28 gene polymorphism can aid the choice of treatment for patients with colorectal cancer in personalized medicine, increasing the chances of therapeutic success.
Resumo Objetivo Avaliar a relação do polimorfismo do gene UGT1A1*28 com a prevalência de neutropenia em pacientes com câncer colorretal submetidos a tratamento com o irinotecano. Método Foram incluídos 13 estudos sobre o tema proposto, selecionados nas bases de dados da Biblioteca Virtual de Saúde, Scientific Electronic Library Online, International Health Sciences Literature e PubMed.Os dados foramcoletados dos artigos científicos selecionados e avaliados com o auxílio do software BioEstat 5.3 (BioEstat, Belém, PA, Brasil). Resultados Osgenótipos analisados foram6/6 (tipo selvagem), 6/7 e 7/7. Foramincluídos 2.146 pacientes. Destes, 55,6% (n=1.193) apresentaram genótipo 6/6, 37,3% (n=801) eramheterozigotos (6/7) e 7,1%(n=152) tinhamo genótipo 7/7.Umtotal de 1.672 (77,9%) pacientes apresentou neutropenia leve e 474 (22,1%) neutropenia severa. Ao contrastar os genótipos 6/7 e 7/7 como 6/6, percebeu-se, coma execução dos testes estatísticos demetaanálise, que os pacientes como alelo 7, emhomozigose ou heterozigose, tinhammaior risco de desenvolver neutropenia severa que pacientes com o genótipo 6/6 (razão de chances =1,559; intervalo de confiança de 95%=1,163-2,090; p=0,003). Conclusão A análise do polimorfismo do gene UGT1A1*28 pode auxiliar na escolha do tratamento do paciente comcâncer colorretal, no contexto da medicina personalizada, ampliando, assim, as chances de sucesso terapêutico.
Subject(s)
Humans , Polymorphism, Genetic , Colorectal Neoplasms/drug therapy , Neutropenia/epidemiology , Prevalence , Irinotecan/adverse effects , Irinotecan/therapeutic useABSTRACT
Abstract Invasive aspergillosis is a common fungal infection in immunocompromised individuals. Some studies have shown that toll-like receptor and dectin-1 genetic polymorphisms may alter signaling pathways, thus increasing an individual's susceptibility to invasive aspergillosis. We investigated the pertinent literature to determine whether polymorphisms in the genes encoding toll-like receptors and dectin-1 increase the susceptibility to invasive aspergillosis. This study systematically reviewed the literature using the databases PubMed/PMC, Scopus, and Web of Science using the keywords invasive aspergillosis, polymorphism, Toll-like, and Dectin-1. From the initial search, 415 studies were found and according to our inclusion and exclusion criteria, eight studies were selected. Several studies described single-nucleotide polymorphisms (SNPs) that are associated with a greater susceptibility to invasive aspergillosis. These SNPs were found in the genes that encode toll-like receptors 1, 3, 4, and 5 and the gene that encodes dectin-1; upon activation, both cellular receptors initiate a signaling cascade that can result in the production of cytokines and chemokines. Thus, our literature review uncovered a significant association between polymorphisms in the genes that encode toll-like receptors and dectin-1 and invasive aspergillosis. More studies should be performed to better understand the relationship between toll-like receptor and dectin-1 genetic polymorphisms and invasive aspergillosis susceptibility.
Subject(s)
Humans , Aspergillosis/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Lectins, C-Type/genetics , Toll-Like Receptors/geneticsABSTRACT
Introdução: O câncer de mama é a segunda neoplasia mais frequente no mundo e a primeira mais comum no sexo feminino. Dados epidemiológicos apontam o efeito de agentes carcinogênicos e fatores ambientais para maior susceptibilidade em desenvolver o câncer de mama. No contexto das avaliações moleculares, o polimorfismo nulo do gene GSTM1 é comumente estudado na tentativa de associá-lo ao desenvolvimento desta neoplasia. Objetivo: Avaliar se os indivíduos que apresentam o polimorfismo nulo para o gene GSTM1 possuem susceptibilidade ao câncer de mama. Métodos: Realizou-se meta-análise com 10 estudos do tipo caso-controle, que apresentavam pacientes com confirmação histológica de câncer de mama e que faziam uso da PCR e/ou sequenciamento de DNA para determinar o polimorfismo nulo do gene GSTM1. A análise foi realizada após a coleta dos dados necessários (autor, ano de publicação, país e resultados). Os cálculos estatísticos e a representação dos dados foram obtidos com o auxílio do software BioEstat® 5.0. Resultados: O total de indivíduos, após o agrupamento dos dados dos estudos, foi de 7.607 (3.759 casos e 3.848 controles). As frequências para o polimorfismo nulo do gene GSTM1 em pacientes com câncer de mama foram, respectivamente, 51,0% no grupo casos e 50,3% no grupo controle. A análise dos dados obtidos revelou OR: 0,967 e IC95% 0,883?1,060. Conclusão: Conforme os dados obtidos na meta-análise, não foi encontrada associação significativa entre o polimorfismo nulo do gene GSTM1 e o desenvolvimento do câncer de mama. Assim, os resultados do presente estudo mostram que o polimorfismo em questão não alterou suscetibilidade ao câncer de mama, portanto, devem-se levar em consideração outros fatores com maior significância, como: tabagismo, outros marcadores genéticos, tais como BRCA1 e BRCA2, paridade, entre outros.
Introduction: Breast cancer is the second most common cancer worldwide and the first more common in females. Epidemiological data show the effect of carcinogens and environmental factors in the increased susceptibility of developing breast cancer. In the context of molecular assessments, the null polymorphism of GSTM1 gene is commonly studied in an attempt to associate with the development of this neoplasm. Objective: To evaluate whether individuals with the GSTM1-null polymorphism possess susceptibility to breast cancer. Methods: It was conducted a meta-analysis of 10 case-control studies, which had patients with histological confirmed breast cancer and used PCR and/or DNA sequencing to determine the null polymorphism of GSTM1 gene. The analysis was performed after gathering the necessary data (author, publication year, country and results). Statistical calculations and the representation of the data were obtained with the help of BioEstat® 5.0 software. Results: The total number of individuals, after grouping the data was 7,607 (3,759 cases and 3,848 controls). The frequencies for the null polymorphism of GSTM1 gene were, respectively, 51.0% in the case group and 50.3% in the control group. The analysis of the obtained data revealed OR: 0.967 and 95%CI 0.883?1.060. Conclusion: According to the data obtained by meta-analysis it was not found significant association between GSTM1-null polymorphism and the development of breast cancer. Thus, the results of this study revealed that the polymorphism in question did not change the susceptibility to breast cancer, so it should be considered other factors with greater significance, such as smoking, other genetic markers like BRCA1 and BRCA2, parity, among others.