Prevalência do polimorfismo C677T do gene MTHFR em uma população de idosos / Prevalence of MTHFR C677T polymorphism in an elderly population

Objetivo: determinar a prevalência do polimorfismo MTHFR C677T em uma amostra de 200 idosos da cidade de Parnaíba-PI e comparar suas freqüências genotípicas e alélicas com as observadas em outras populações. Método: a presença dopolimorfismo MTHFR C677T foi determinada pela técnica de reação em cadeia da polimerase seguida por tratamentocom a enzima de restrição HinfI (PCR-RFLP), acompanhado de eletroforese em gel de poliacrilamida 8%, corado comnitrato de prata. Resultados: dos 200 indivíduos estudados, 120 (60%) apresentaram genótipo homozigoto normal (CC);63 (31,5%) foram heterozigotos (CT) e 17 (8,5%) mostraram-se homozigotos TT. A frequência do alelo polimórfico T foide 23,4%. As frequências genotípicas mostraram-se sob equilíbrio de Hardy-Weinberg e não houve diferenças estatisticamentesignificantes quanto à distribuição do alelo T por sexo ou faixa etária. Conclusão: os resultados apresentadosneste estudo representam o primeiro relato indicativo da frequência deste polimorfismo em uma população piauiense. Afrequência do alelo T foi consideravelmente elevada (24,3%) comparada com a população geral e, portanto, estudos sãonecessários para investigar a contribuição desse polimorfismo na etiologia e/ou gravidade a determinadas doenças, nessapopulação.

Objective: to determine the prevalence of MTHFR C677T polymorphism in a sample of 200 elderly individuals fromParnaíba, Piauí, Brazil and to compare its genotypic and allelic frequencies with those observed in other populations.Method: the presence of MTHFR C677T polymorphism was evaluated by polymerase chain reaction followed by restrictionenzyme analysis with HinfI endonuclease (PCR-RFLP). After cleavage, the genotypes were evaluated by 8% silverstained polyacrylamide gel. Results: of the 200 individuals studied, 120 (60%) were homozygous normal (CC), 63 (31.5%) were heterozygous (CT) and 17 (8.5%) were homozygous TT. The frequency of the polymorphic allele T was23.4%. The genotypic frequencies were found to be in Hardy-Weinberg equilibrium and there was no statistically significantdifferences regarding the distribution of T-allele by sex or age. Conclusion: the results presented in this studyrepresent the first report of the MTHFR C677T polymorphism frequency in a population of Piauí. The T-allele frequencywas significantly higher (24.3%) compared to the general population and therefore studies are needed to investigate thecontribution of this polymorphism in the etiology and/or severity of certain diseases in this population

Epidemiologia do envelhecimento: dinamização, problemas e consequências / Epidemiology of aging: dynamization, problems and consequences

O presente trabalho objetiva descrever o perfil multidimensional dos idosos da cidade de Parnaíba, Piauí, frente aos hábitos de vida, condições de moradia, saneamento e outros indicadores de saúde. Foram recrutados 454 indivíduos com idade igual ou superior a 65 anos, de ambos os sexos. Obtiveram-se resultados preocupantes quanto ao grau de insalubridade e precários hábitos de higiene. Conclui-se que as condições de vida dos idosos predispõem o surgimento de vários agravos à saúde...

To describe a multidimensional profile of elderly Parnaíba, Piauí, compared to lifestyle, living conditions and sanitation, among other health indicators. We recruited 454 individuals aged over 65 years, of both sexes. The analyzed data showed worrying results regarding the degree of unhealthiness and poor hygiene habits. We conclude that the living conditions of the elderly predispose the emergence of several health problems...

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95 percent of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96 percent of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36 percent), Q318X (12 percent), V281L (12 percent), 1760_1761insT (9 percent), Cluster E6 (7 percent), and P30L (7 percent). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9 percent) and TAFI T1053C (74 percent) and low frequencies of FVL (1.6 percent), FII G20210A (0.8 percent) and TAFI A152G (0.8 percent). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of European descent living in the city of Ribeirão Preto in the Brazilian state of São Paulo. The frequency of the two TAFI mutations in the Belém individuals was not significantly different from that described for individuals from Ribeirão Preto. We suggest that the risks for VTE in the population of Belém are of the same magnitude as that observed in European populations and in populations with an expressive European contribution.