Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2118
Título: 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 Portugal
Autor: 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, Marta
Palavras-chave: Metabolic Syndrome
CYP2C19 gene
Genetic Association Study
Continuous MetS Score
Determinantes da Saúde e da Doença
Doenças Cardio e Cérebro-vasculares
Data: Fev-2014
Editora: BioMed Central/ Brazilian Diabetes Society (SBD)
Citação: Diabetol Metab Syndr. 2014 Feb 18;6(1):23. doi: 10.1186/1758-5996-6-23
Resumo: BACKGROUND: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2118
ISSN: 1758-5996
Versão do Editor: http://www.dmsjournal.com/content/pdf/1758-5996-6-23.pdf
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais
DEP - Artigos em revistas internacionais

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