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The applicability of the low-density lipoprotein cholesterol gene score in the Portuguese population
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Orientador(es)
Resumo(s)
Aim: The correct identification of the dyslipidaemia is of great importance in order to
implement specific interventions, especially for cardiovascular disease (CVD)
prevention.
The Global Lipids Genetics Consortium (GLGC) reported 158 loci associated
with lipid traits, by genome-wide association studies (GWAS), although
practical value of GWAS approach is still a subject of debate, half of these loci
are previously known to influence serum lipid concentrations.
Previous studies (Talmud et al., 2013; Futema et al., 2015) have demonstrated
that the co-inheritance of low-density lipoprotein (LDL-C)-raising alleles from 6
of these SNPs is associated with the Familial Hypercholesterolaemia (FH)
phenotype. Here we investigated the applicability of the LDL-C genetic risk
score in the Portuguese FH population.
Descrição
Palavras-chave
Dyslipidaemia Cardiovascular Disease Familial Hypercholesterolaemia e_COR (Prevalência de fatores de risco na população portuguesa) Doenças Cardio e Cérebro-vasculares Portugal
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP