RESUMO
OBJECTIVES: To evaluate the expression of miR-126-3p and its potential as a biomarker for cholangiocarcinoma (CCA) and to better understand the prognosis, comorbidities, and lifestyle habits associated with the disease. METHODS: Fifty-nine individuals were distributed into either the study group (38 CCA patients) or the control group (21 individuals without liver diseases). Total RNA was extracted, cDNA synthesis was performed, and miR-126-3p expression was assessed using real-time PCR. For statistical analysis, alpha error was set at 5%. RESULTS: MiR-126-3p was found to be underexpressed in the study group relative to the controls (0.42; P=0.001). Additionally, marked underexpression was found in the study group in when associated with smoking (0.28; P=0.0001), alcoholism (0.19; P=0.0001), hypertension (0.29; P=000.1), and diabetes (0.12; P=0.0003) relative to the controls. No association was found between miR-126-3p expression and tumor subtypes (iCCA=0.42; pCCA=0.45; dCCA=0.72; P=0.9155). A total of 67% of dCCA patients were event-free at 16 months of follow up, while both pCCA and iCCA exhibited event-free survival rates of 25%, though there was no significant difference between these subgroups (P=0.273). CONCLUSION: The underexpression of mir-126-3p is associated with cholangiocarcinoma and can be potentiated by alcoholism, hypertension, diabetes, and smoking, the latter of which is an independent risk factor for this cancer. Furthermore, dCCA patients exhibit higher survival rates relative to patients with pCCA and iCCA.
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Assuntos
Neoplasias dos Ductos Biliares/genética , Colangiocarcinoma/genética , MicroRNAs/genética , Adulto , Alcoolismo/complicações , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/mortalidade , Brasil , Estudos de Casos e Controles , Colangiocarcinoma/complicações , Colangiocarcinoma/mortalidade , Complicações do Diabetes/complicações , Feminino , Humanos , Hipertensão/complicações , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Curva ROC , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Taxa de SobrevidaRESUMO
INTRODUCTION: The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). METHOD: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. RESULTS: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. CONCLUSION: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.
Assuntos
Mutação , Doença de Parkinson/genética , Polimorfismo de Fragmento de Restrição/genética , alfa-Sinucleína/genética , Adulto , Idoso , Brasil , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Fatores SexuaisRESUMO
Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.
Introdução A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.)Objetivos Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE).Método Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05.Resultados Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos.Conclusão DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.
