ABSTRACT
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.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Mutation , Parkinson Disease/genetics , Polymorphism, Restriction Fragment Length/genetics , alpha-Synuclein/genetics , Brazil , Case-Control Studies , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Polymerase Chain Reaction , Sex FactorsABSTRACT
Introdução: A síndrome metabólica (SM) é associada com risco aumentado para eventos cardiovasculares. Esse estudo teve como objetivo avaliar a prevalência de SM em indivíduos brasileiros com acompanhamento cardiológico, considerando antecedentes pessoais e uso de medicamentos. Métodos: Foram estudados 163 adultos (85 pacientes e 78 controles). SM foi caracterizada de acordo com os critérios da International Diabetes Federation. Analisou-se história prévia de diabetes mellitus (DM), dislipidemia, doença arterial coronária (DAC), acidente vascular encefálico (AVE), tabagismo, etilismo, sedentarismo, além de medicamentos utilizados. Admitiu-se nível de significância P<0,05. Resultados: Maior frequência de SM (59%) e de pressão arterial elevada (71%) foi observada entre os pacientes se comparado aos controles (3% e 13%, respectivamente, P<0,0001 para ambos). No grupo dos pacientes detectou-se maior prevalência de níveis reduzidos de fração de colesterol de lipoproteína de alta densidade (HDLc: 41%) e de níveis aumentados de triglicérides (TG: 39%) quando comparados aos controles (17%, P=0,0010 e 19%, P=0,0095; respectivamente). A incidência de obesidade visceral foi semelhante em pacientes (77%) e controles (64%, P=0,0890). O uso contínuo de drogas anti-hipertensivas (67%), hipoglicemiantes (18%) e hipolipemiantes (42%) foi mais prevalente em pacientes comparado aos controles (P<0,0001). Uma maior proporção de pacientes com DM,DAC e dislipidemia foi observada (P<0,0010) e história pessoal de AVE foi detectada apenas nesses indivíduos(6%, P=0,0598). Entretanto, maior frequência de tabagismo (P=0,0015), alcoolismo (P=0,0070) e sedentarismo(P=0,0236) foi observada nos controles. Conclusão: Neste estudo SM, assim como particularmente pressão arterial elevada, nível baixo de HDLc e elevado de TG destacam-se em casuística brasileira com acompanhamento cardiológico, confirmando a necessidade de combate agressivo aos fatores de risco já consagrados...
Background: The metabolic syndrome (MS) is associated with an increased risk of major cardiovascular events. This study aimed to evaluate the prevalence of MS in Brazilian individuals with cardiologic medical assistance, considering their personal history and use of drugs. Methods: One hundred sixty-three adults (85patients and 78 controls) were studied. MS was characterized using International Diabetes Federation definitions. History of diabetes mellitus (DM), dyslipidemia, coronary artery disease (CAD), stroke, smoking,alcohol consumption, sedentary lifestyle, and habitual therapy were analyzed. Significance level was definedas P<0.05. Results: Higher frequency of MS (59%) and elevated blood pressure levels (71%) were observed among patients compared to controls (3% and 13%, respectively, P<0.0001 for both). In the group of patients were detected higher prevalence of reduced levels of high-density lipoprotein cholesterol fractions (HDLc)(41%) and increased levels of triglycerides (TG: 39%) when compared to controls (17%, P=0.0010 and 19%,P=0.0095; respectively). The incidence of visceral obesity was similar in patients (77%) and controls (64%,P=0.0890). The habitual therapy with anti-hypertensive (67%), anti-hyperglycemic (18%) and lipid-lowering drugs (42%) was more prevalent in patients when compared to controls (P<0.0001). A higher rate of DM,CAD and dyslipidemia was observed in patients (P<0.0010) and personal history of stroke was detected only among these individuals (6%, p=0.0598). However, higher frequencies of smoking (P=0.0015), alcohol consumption (P=0.0070), and sedentary life style (P=0.0236) was observed among controls. Conclusions: In this study MS, particularly high blood pressure, low HDLc and high TG levels stand out in Brazilian subjects with cardiologic medical assistance, supporting the importance in order to combat the classic clustering of cardiovascular disease risk factors. In addition, the expressive rate of visceral obesity...
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged, 80 and over , Cardiovascular Diseases , Metabolic Syndrome/epidemiologyABSTRACT
Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95 percent = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total cholesterol (O.R. = 0.16, CI95 percent = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95 percent = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68 percent) with elevated serum triglyceride levels, compared to patients (48 percent, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors.
ABSTRACT
O objetivo do presente estudo foi analisar freqüências alélicas e genotípicas para o gene codificador da cadeia beta do fibrinogênio em pacientes com doença arterial periférica (DAP). Foram estudados 44 pacientes caucasóides do sexo masculino com sintomas clínicos e comprovação angiográfica de DAP, com idade entre 38 e 79 anos (62±8,6 anos). Entre eles, 22 apresentaram obstrução aterosclerótica nas artérias ilíacas, femorais e/ou carótidas e 22 tinham aneurisma de aorta torácica, abdominal ou tóraco-abdominal. O grupo controle foi constituído por 56 indivíduos, sem história clínica de DAP ou alterações ao exame clínico, com idades variando de 43 a 80 anos (59±9,2 anos). Foram excluídos os indivíduos com doença renal, doença hepática ou diabetes mellitus. A análise do polimorfismo genético da cadeia do fibrinogênio foi realizada por PCR (polimerase chain reaction) e RFLP (restriction fragment lenght polimorphism) com a endonuclease Bcl I, identificando-se três genótipos: B1/B1, B1/B2 e B2/B2. A análise estatística incluiu teste exato de Fisher, calculo do odds ratio, teste de Kruskal Wallis e análise de variância (ANOVA). Admitiu-se erro a igual a 5 por cento, com nível de significância para P<0,05. O alelo B1 foi o mais prevalente em pacientes e controles (0,819 e 0,857, respectivamente; P=0,5605), com prevalência do genótipo B1/B1 nos pacientes (65,9 por cento) e controles (71,4 por cento; P=0,6639), seguido de B1/B2 (31,8; 28,6 por cento, respectivamente; P=0,8268). Em conclusão, DAP, independente do tipo de lesão obstrutiva ou aneurismática, apresenta-se indiferente ao polimorfismo Bcl I do fibrinogênio, portanto, sem influência dos alelos B1 e B2 para fibrinogênio e seus respectivos genótipos na doença.
The objective of this study was to analyze the frequencies of thealleles and genotypes of the gene encoder of the fibrinogen bchainin patients suffering from peripheral artery disease. A totalof 62 male Caucasoid patients with ages varying from 38 to 79years old were studied. All the patients had clinical symptoms ofperipheral artery disease, which was later confirmed byangiography. Forty of the patients had atheroscleroticobstructions of the iliac, femoral or carotid arteries and 22 sufferedfrom aneurysms of the thoracic, abdominal or thoracoabdominalaortas. All the patients were submitted to surgery. A controlgroup was formed of 62 individuals, with ages ranging from 43to 80 years old, without clinical histories or alterations in theirclinical examinations of peripheral artery disease. Individualswith renal disease, liver disease or diabetes mellitus wereexcluded. Analysis of the fibrinogen b-chain was performed usingpolymerase chain reaction and restriction fragment lengthpolymorphism with Bcl I endonuclease. Three genotypes, B1/B1,B1/B2 and B2/B2 were identified. Statistical analysis was madeusing the Fisher Exact test, odds ratio, Kruskal-Wallis test andvariance analysis (ANOVA). A p-value = 0.05 was consideredsignificant. The B1 allele was the most prevalent in both patientsand the control group (0.819 and 0.857, respectively), withprevalence of the B1/B1 genotype in patients and controls (65.9%vs. 71.4% respectively), followed by B1/B2 (31.8% vs. 28.6%respectively). No significant difference was observed in relationto the Bcl I polymorphisms of the fibrinogen b-chain andobstructive and aneurysmal peripheral artery disease. Inconclusion, the B1 and B2 polymorphisms of the fibrinogen bchain and teir respective genotypes do not have any influence in peripheral artery disease.