Browsing by Author "Gaio, Vania"
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- Effectiveness of the autumn 2023 COVID-19 vaccine dose in hospital-based healthcare workers: results of the VEBIS healthcare worker vaccine effectiveness cohort study, seven European countries, season 2023/24Publication . Savulescu, Camelia; Prats-Uribe, Albert; Brolin, Kim; Uusküla, Anneli; Bergin, Colm; Fleming, Catherine; Murri, Rita; Zvirbulis, Viesturs; Zavadska, Dace; Gaio, Vania; Popescu, Corneliu P.; Hrisca, Raluca; Cisneros, Maria; Latorre-Millán, Miriam; Lohur, Liis; McGrath, Jonathan; Ferguson, Lauren; De Gaetano Donati, Katleen; Abolina, Ilze; Gravele, Dagne; Machado, Ausenda; Florescu, Simin-Aysel; Lazar, Mihaela; Subirats, Pilar; Clusa Cuesta, Laura; Sui, Jacklyn; Kenny, Claire; Santangelo, Rosaria; Krievins, Dainis; Barzdina, Elza Anna; Valadas Henriques, Camila; Kosa, Alma Gabriela; Pohrib, Saftica-Mariana; Muñoz-Almagro, Carmen; Milagro, Ana; Bacci, Sabrina; Nardone, Anthony; VEBIS HCW VE study group; Collaborators in VEBIS HCW study groupCOVID-19 vaccination recommendations prioritise healthcare workers (HCWs), considering their exposure to severe acute respiratory coronavirus 2 (SARS-CoV-2) and their key role in the functioning of healthcare systems. In the European Union/European Economic Area (EU/EEA), HCWs were considered a priority for COVID-19 revaccination during the autumn 2023 campaign [1], and the World Health Organization (WHO) recommended revaccination of HCWs 12 months after their last dose [2]. Because the Omicron sub-lineage XBB.1.5 predominated in spring 2023, the COVID-19 vaccines were adapted to target this emerging strain, and the first XBB.1.5 vaccine was authorised for use in the EU/EEA in August 2023. Omicron BA.2.86/JN.1 emerged in the EU/EEA at the end of 2023, according to data available on the European Respiratory Virus Surveillance Summary (ERVISS) [3]. Evidence for COVID-19 vaccine recommendation in the HCW population remains scarce. Within the Vaccine Effectiveness, Burden and Impact (VEBIS) project, we aimed to measure the COVID-19 vaccine effectiveness (CVE) in HCWs, in the winter season 2023/24.
- Genetic variation at the CY2C19 gene associated with Metabolic Syndrome susceptibility in a South Portuguese populationPublication . Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias; Barreto da Silva, MartaMetabolic 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%), constituting a public health problem. Although for clinical settings, a binary definition of MetS enabling a yes or no diagnosis is useful, it is clear that dichotomizing a continuous outcome variable reduces the statistical power of the MetS association studies. Therefore, the aim of the present study is to identify genetic risk factors involved in MetS etiology, using a continuous MetS score. To achieve our goal, a principal component analysis was performed to compute a score using the six normalized risk factors for MetS (waist circumference, diastolic and systolic blood pressure, glucose, triglycerides and HDL blood levels), with a higher MetS score indicating a less favorable MetS profile. After calculating this score, an association study was performed using 37 SNPs in candidate genes involved in MetS related diseases. A total of 206 subjects, including 119 women and 87 men (mean age: 56,31± 16,37 years, range: 26-91 years) were included in this analysis. We found 4 SNPs significantly associated with higher MetS scores (rs4244285 (CYP2C19), rs279871 (GABRA2), rs1647 (NPY) and rs1142345(TPMT)). P-values are 4,36x10-4, 1,3x10-2, 1,7x10-2 and 9,76x10-3 respectively. After correcting for multiple testing only rs4244285 (CYP2C19) remains significant (p=0,016). In addition, we have performed a multiple regression analysis considering the CYP2C19 genotype as the independent variable, adjusted for age. The resulting model explains 17% of the MetS score variance. After adding the remaining SNP genotypes that do not survive the multiple testing correction, the same model is able to explain 23,1% of the score. Our findings support the evidence of an association between CYP2C19 rs4244285 gene polymorphism and the MetS score, emphasizing the importance of lipid metabolism, thought cytochrome P450 enzymes, in the MetS etiology. However, further studies will be necessary to replicate these findings in different populations as well as functional studies to clarify the role of this variant in the etiology of MetS.
- Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in PortugalPublication . Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Matias Dias, Carlos; Barreto da Silva, MartaBACKGROUND: 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 these common genetic components, we have performed a genetic association study by integrating MetS traits in a continuous MetS score. METHODS: A cross-sectional study developed in the context of the Portuguese Component of the European Health Examination Survey (EHES) was used. Data was collected through a detailed questionnaire and physical examination. Blood samples were collected and biochemical analyses were performed. Waist circumference, blood pressure, glucose, triglycerides and high density lipoprotein cholesterol (HDL) levels were used to compute a continuous MetS score, obtained by Principal Component Analysis. A total of 37 single nucleotide polymorphisms (SNPs) were genotyped and individually tested for association with the score, adjusting for confounding variables. RESULTS: A total of 206 individuals were studied. Calculated MetS score increased progressively with increasing number of risk factors (P < 0.001). We found a significant association between CYP2C19 rs4244285 and the MetS score not detected using the MetS dichotomic approach. Individuals with the A allelic variant seem to be protected against MetS, displaying a lower MetS score (Mean difference: 0.847; 95%CI: 0.163-1.531; P = 0.015), after adjustment for age, gender, smoking status, excessive alcohol consumption and physical inactivity. An additive genetic effect of GABRA2 rs279871, NPY rs16147 and TPMT rs1142345 in the MetS score variation was also found. CONCLUSIONS: This is the first report of a genetic association study using a continuous MetS score. The significant association found between the CYP2C19 polymorphism and the MetS score but not with the individual associated traits, emphasizes the importance of lipid metabolism in a MetS common etiological pathway and consequently on the clustering of different cardiovascular risk factors. Despite the sample size limitation of our study, this strategy can be useful to find genetic factors involved in the etiology of other disorders that are defined in a dichotomized way.
- Prevalence of anemia in the Portuguese adult population: results from the first National Health Examination Survey (INSEF 2015)Publication . Samões, Catarina; Kislaya, Irina; Sousa-Uva, Mafalda; Gaio, Vania; Faustino, Paula; Nunes, Baltazar; Matias-Dias, Carlos; Barreto, MartaAims: Anemia is a global public health problemwith relevant adverse health, social and economic consequences. The objective of this study was to analyze the distribution of the prevalence of anemia in the Portuguese population. Methods: This is a cross-sectional population-based study, based on the first Portuguese National Health Examination Survey (INSEF), which included 4812 participants aged 25 to 74 years, with data on hemoglobin levels and self-reported diagnosis of anemia. The socioeconomic status of participants was assessed by education level, employment status and material deprivation. The association between socioeconomic factors and anemia was estimated by adjusted prevalence ratios. Results: The prevalence of anemia overall was 5.8%, 3.1% in men and 8.4% in women. The overall prevalence of moderate–severe anemia was 1.1%. Previously undiagnosed cases represented 92.5%. In men, anemia was associated with age, education, occupation and material deprivation, and in women, with age group and urban typology. Conclusion: Anemia represents a relevant public health issue in Portugal. In women, it is more prevalent among those of childbearing age and older, and in men among older individuals of low socioeconomic status. This information is relevant for developing targeted strategies aimed at the prevention, diagnosis and treatment of anemia.
- Prevalence of diabetes-associated gene variants and its association with blood glucose levels in the Algarve population, PortugalPublication . Gaio, Vania; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Barreto da Silva, Marta; Dias, Carlos MatiasThe global rise in incidence of type 2 (T2D) has been called a pandemic, constituting a major public health concern. Although environmental factors play a substantial role in the etiology of T2D, genetic susceptibility has been established as a key component in T2D risk. Given the absence of studies regarding the prevalence of T2D associated variants in the Portuguese population, our aim was to determine the prevalence of disease-associated variants and determine its relative contribution to this phenotype. For this purpose, we have recruited 221 individuals (93 males and 128 females), between 26-91 years old (mean age 57.1), who were enrolled in the Health Centre of S. Brás de Alportel (Algarve). For each participant, we have measured total glucose levels and collected DNA. In addition, each participant has answered an exhaustive questionnaire including socio-demographic information, health history and lifestyle. We have selected and analysed three of the most significant loci previously reported to be associated with T2D in Caucasian populations (TCF7L2 rs7903146, PARPG rs1801282 and FTO rs9939609) and performed an association analysis between glucose levels in this population and the selected gene variants. The mean total population glucose level was 103.85±35.3 g/dl. We found a significant difference in the mean glucose levels between males (mean = 111.5±51.3 g/dl) and females (mean = 98.4±17.6 g/dl) (Mann-Whitney test P < 0.001). The relative allele frequencies of the genotyped variants have been established. Genotype distribution for all investigated SNPs was in Hardy-Weinberg equilibrium. We found a marginal association between glucose levels and genotypes at the TCF7L2 locus (Mann-Whitney test P = 0.045) in females but not in males, with carriers of the T allele displaying higher levels of blood glucose than homozygous for the A allele. This difference is also observed in males, although not reaching significance. No association was found between glucose levels and the other genotyped variants. These results suggest that the pathophysiology of the disease may be different between males and females, or that environmental factors are influencing this trait in males. We are currently investigating the later hypothesis by increasing our sample size and by analysing lifestyle information provided by the participants in order to evaluate gene-environment interactions influencing glucose levels in the Portuguese population.
