CYP2C9 and VKORC1 polymorphisms are differently distributed in the Brazilian population according to self-declared ethnicity or genetic ancestry.

BACKGROUND: Warfarin-dosing pharmacogenetic algorithms have presented different performances across ethnicities, and the impact in admixed populations is not fully known. AIMS: To evaluate the CYP2C9 and VKORC1 polymorphisms and warfarin-predicted metabolic phenotypes according to both self-declared ethnicity and genetic ancestry in a Brazilian general population plus Amerindian groups. METHODS: Two hundred twenty-two Amerindians (Tupinikin and Guarani) were enrolled and 1038 individuals from the Brazilian general population who were self-declared as White, Intermediate (Brown, Pardo in Portuguese), or Black. Samples of 274 Brazilian subjects from Sao Paulo were analyzed for genetic ancestry using an Affymetrix 6.0(®) genotyping platform. The CYP2C9*2 (rs1799853), CYP2C9*3 (rs1057910), and VKORC1 g.-1639G>A (rs9923231) polymorphisms were genotyped in all studied individuals. RESULTS: The allelic frequency for the VKORC1 polymorphism was differently distributed according to self-declared ethnicity: White (50.5%), Intermediate (46.0%), Black (39.3%), Tupinikin (40.1%), and Guarani (37.3%) (p<0.001), respectively. The frequency of intermediate plus poor metabolizers (IM+PM) was higher in White (28.3%) than in Intermediate (22.7%), Black (20.5%), Tupinikin (12.9%), and Guarani (5.3%), (p<0.001). For the samples with determined ancestry, subjects carrying the GG genotype for the VKORC1 had higher African ancestry and lower European ancestry (0.14±0.02 and 0.62±0.02) than in subjects carrying AA (0.05±0.01 and 0.73±0.03) (p=0.009 and 0.03, respectively). Subjects classified as IM+PM had lower African ancestry (0.08±0.01) than extensive metabolizers (0.12±0.01) (p=0.02). CONCLUSIONS: The CYP2C9 and VKORC1 polymorphisms are differently distributed according to self-declared ethnicity or genetic ancestry in the Brazilian general population plus Amerindians. This information is an initial step toward clinical pharmacogenetic implementation, and it could be very useful in strategic planning aiming at an individual therapeutic approach and an adverse drug effect profile prediction in an admixed population.

Nutritional risk in the urban population of Ouro Preto, southeastern region of Brazil: the Ouro Preto heart study.

OBJECTIVE: To estimate the prevalence of combined nutritional risk according to sociodemographic and sedentarism characteristics of the urban population of Ouro Preto, state of Minas Gerais, Brazil. METHODS: This cross-sectional study was conducted with a probability sampling of 768 subjects aged 15 years or older. Nutritional risk (NR) was defined according to the BMI and WC classification criteria adopted by the National Institutes of Health. Isolated NR (INR) was defined as women with WC > 80 cm and men with WC > 94 cm, and the combined nutritional risk (CNR) as the same WC values mentioned above and/or BMI > 25 kg/m(2). Binary logistic regression and the Hosmer & Lemeshow test were used to construct and adjust these models. RESULTS: INR was observed in several BMI categories for both women and men, with the following results: 19.1% and 1.4% among those with normal weight, 91.7% and 56% in overweight patients, and 98.5% and 80% in obese patients, respectively. Age and level of education were independently associated with the CNR. Odds ratios (OR) for CNR in women and men over 60 years of age were 9.94 and 14.35, respectively, when compared to younger patients. For women with < 4 years of schooling, the OR was 1.83 compared to patients with more than 4 years of school attendance, while among men with an average number of years of school attendance, the OR was 2.55 relative to those with more years of schooling. CONCLUSION: These findings show that age and education have an independent effect on the probability of CNR occurrence, and also that a joint analysis of BMI and WC is important in screening groups for nutritional risk.

Circadian pattern of ventricular tachycardia episodes in patients with Chagas heart disease.

Chronic Chagas' cardiomyopathy (CCM) causes ventricular arrhythmias and sudden death, and constitutes the most frequent cause of death in many endemic areas. The circadian variation in the incidence of ventricular arrhythmias and sudden death differs according to the substrate (e.g., morning and evening peaks in ischemic heart disease and non-Chagasic dilated cardiomyopathy). Third generation implantable cardioverter defibrillators (ICDs) have the ability to store the time and date of each ventricular tachycardia (VT) episode, enabling the patterns of ventricular tachyarrhythmia occurrence to be analyzed. The aim of our study was to evaluate the circadian variation of spontaneous VT in recipients of an ICD with CCM.

Risco nutricional na população urbana de Ouro Preto, sudeste do Brasil: estudo de corações de Ouro Preto / Nutricional risk in the urban population of Ouro Preto, southeastern region of Brazil: the Ouro Preto heart study

OBJETIVO: Estimar a prevalência do risco nutricional combinado [índice de massa corporal (IMC) e circunferência da cintura (CC)] segundo as características sócio-demográficas e sedentarismo, da população urbana residente em Ouro Preto (MG), Brasil. MÉTODOS: Estudo transversal foi realizado em uma amostra probabilística de 768 indivíduos com 15 ou mais anos de idade. Risco nutricional (RN) foi definido de acordo com os critérios de classificação do IMC e CC do National Institutes of Health, classificando-se em RN isolado (RNI) as mulheres com CC > 80 cm e homens CC > 94 cm e combinado (RNC) (CC acima e/ou IMC > 25 kg/m²). Regressão logística binária e teste de Hosmer & Lemeshow foram utilizados para construir e ajustar os modelos. RESULTADOS: O RNI esteve presente nas diferentes categorias de IMC tanto para mulheres quanto para homens, sendo de 19,1 por cento e 1,4 por cento entre aqueles com peso normal; 91,7 por cento e 56 por cento com sobrepeso e 98,5 por cento e 80 por cento com obesidade, respectivamente. Idade e escolaridade associaram-se de forma independente ao RNC. Mulheres e homens acima de 60 anos apresentavam, respectivamente, Odds Ratio (OR) de RNC de 9,94 e 14,35, quando comparados aos mais jovens. Para mulheres com escolaridade < 4 anos, a OR foi de 1,83 quando comparadas àquelas com mais de 4 anos e, em homens de média escolaridade, de 2,55 em relação aos de alta. CONCLUSÃO: Estes achados mostram o efeito independente da idade e escolaridade na probabilidade de ocorrência do RNC e a importância da análise conjunta do IMC e CC para a seleção de grupos em risco nutricional.

OBJECTIVE: To estimate the prevalence of combined nutritional risk according to sociodemographic and sedentarism characteristics of the urban population of Ouro Preto, state of Minas Gerais, Brazil. METHODS: This cross-sectional study was conducted with a probability sampling of 768 subjects aged 15 years or older. Nutritional risk (NR) was defined according to the BMI and WC classification criteria adopted by the National Institutes of Health. Isolated NR (INR) was defined as women with WC > 80 cm and men with WC > 94 cm, and the combined nutritional risk (CNR) as the same WC values mentioned above and/or BMI > 25 kg/m². Binary logistic regression and the Hosmer & Lemeshow test were used to construct and adjust these models. RESULTS: INR was observed in several BMI categories for both women and men, with the following results: 19.1 percent and 1.4 percent among those with normal weight, 91.7 percent and 56 percent in overweight patients, and 98.5 percent and 80 percent in obese patients, respectively. Age and level of education were independently associated with the CNR. Odds ratios (OR) for CNR in women and men over 60 years of age were 9.94 and 14.35, respectively, when compared to younger patients. For women with < 4 years of schooling, the OR was 1.83 compared to patients with more than 4 years of school attendance, while among men with an average number of years of school attendance, the OR was 2.55 relative to those with more years of schooling. CONCLUSION: These findings show that age and education have an independent effect on the probability of CNR occurrence, and also that a joint analysis of BMI and WC is important in screening groups for nutritional risk.