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Genetic variation at the CYP2C19 gene associated with metabolic syndrome suscep...
Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, MafaldaBACKGROUND: Metabolic syndrome (MetS) is a cluster of conditions that occur together, increasing the risk of heart disease, stroke and diabetes. Since pathways implicated in different diseases reveal surprising insights into shared genetic bases underlying apparently unrelated traits, we hypothesize that there are common genetic components involved in the clustering of MetS traits. With the aim of identifying t...
Perfil farmacogenético da população do Algarve: resultados do estudo piloto do...
Gaio, Vânia; Picanço, Isabel; Baltazar, Nunes; Aida, Fernandes; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana PaulaPrémio de melhor comunicação oral do IV Congresso Nacional de Saúde Pública ; Introdução: As falhas terapêuticas e reações adversas a medicamentos (RAM) representam um problema de saúde pública, sendo parcialmente determinadas pela variabilidade genética individual. Torna-se assim fundamental conhecer o perfil farmacogenético da população para adequar a terapêutica a cada paciente e minimizar as RAM. O objetiv...
Genetic variation at the CY2C19 gene associated with Metabolic Syndrome suscept...
Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, MafaldaMetabolic syndrome (MetS) is a cluster of conditions — increased blood pressure, high blood glucose level, excess body fat around the waist and abnormal cholesterol levels — that occur together, increasing the risk of heart disease, stroke and diabetes. In Portugal, the MetS prevalence is estimated to be 27,5% with regional variations, being highest in the Alentejo (30,99%) and lowest in the Algarve (24,42%), c...
Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gen...
Barreto da Silva, Marta; Gaio, Vânia; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, MafaldaAlpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide. They are often under-diagnosed conditions and diagnosis is only made when the patient is already in the advanced stages of damage. AAT deficiency results from mutations in one highly pleiomorphic gene located on chromosome 14, SERPINA 1, bei...
Biochemical and genetic evaluation of dyslipidemia in a population sample from ...
Francisco, Vânia; Barreto da Silva, Marta; Alves, Catarina; Rasteiro, Paula; Sousa, Eduardo; Vicente, Astrid; Gil, Ana PaulaDyslipidemia is an important cardiovascular risk factor and represent a serious public health problem in our society. The causes of dyslipidemia can be environmental, genetic or as a consequence of other conditions. The prevalence of this risk factor has not been determined in our population and a national epidemiologic study of prevalence of cardiovascular risk factors, is being conducted. In the scope of this...
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