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- Interplay between glycemia and the genetics of eNOS and ACE for the susceptibility to the onset and development of hypertension on the Portuguese populationPublication . Aguiar, Laura; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel; Inácio, ÂngelaHypertension is a multifactorial condition of genetic and environmental nature. In Portugal the mean prevalence of hypertension in the population is 45.5%. The aim of this study is to evaluate the contribution of anthropometric, physiological and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. A case-control study was conducted in a sample of 377 individuals, 243 hypertensives and 134 normotensives. The polymorphic analyses of intron 4 VNTR in the eNOS gene and the insertion/deletion (I/D) in ACE gene were performed by polymerase chain reaction (PCR). Higher body mass index (BMI) values, higher glycemia and HOMA -IR levels and the 4a allele of the eNOS gene were associated with hypertension. Among the hypertensive group, the allele 4a (eNOS) was associated with higher levels of HbA1c, and the D allele (ACE) with higher glycemia and HOMA-IR levels. Our results highlight the contribution of eNOS and ACE genes as importante players for development of hypertension in the Portuguese population. We believe that a combinatory clinical approach including the traditional anthropomorphic and physiological parameters together with target specific genetic analysis, can be more elucidative in establishing a susceptibility profile on multifactorial conditions as hypertension.
- earlyMYCO – a mother & child cohort in PortugalPublication . Assunção, Ricardo; Martins, Carla; Costa, A.; Serrano, D.; De Boevre, Marthe; Vidal, A.; De Saeger, Sarah; Alvito, Paula; Vidigal, C.; Almeida, E.; Nunes, C.Background: Early-life exposure occurs during gestation through transfer of toxic substances present in the maternal diet to the fetus and later on, during lactation, through the breast milk. Food chemical contaminants as mycotoxins are well known carcinogenic, nephrotoxic, hepatotoxic and immunosuppressive compounds. Recent human biomonitoring data revealed that Portuguese population is exposed to mycotoxins. These results emphasized the need for assessing the prenatal and lactation exposure to mycotoxins in a critical and vulnerable period of life. This study aims for the first time in Portugal to assess the early-life exposure to mycotoxins through a mother & child cohort, thus contributing to the knowledge of the exposome of Portuguese population. Methods: Participants are recruited in primary health care units in Lisbon (Portugal) during pregnancy (1st trimester). Four moments of observation are expected within this study: 2nd trimester of pregnancy (mother), and 1st week of life, 1st month of life, 6th month (mother & child). Each moment includes the collection of biological samples (blood, urine, breast milk) and the application of sociodemographic and food consumption questionnaires. Biological samples will be analyzed by liquid chromatography with detection by mass spectrometry for the detection and quantification of 45 mycotoxins’ biomarkers. Results: Data presented include results of mycotoxins’ biomarkers from 12 participants for blood and urine samples. Results obtained will be used to estimate the probable daily intake of each mycotoxin, to perform risk characterization and estimate the burden associated with this exposure. Conclusions: It is expected that results obtained within earlyMYCO will contribute to have a deeper knowledge on exposure of vulnerable population groups (pregnant women and infants) and to understand the impact of early-life exposure to mycotoxins. The biobank will be available for further research and future studies will be developed in order to have a broader knowledge on the exposome of Portuguese population.
