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Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry

2017-07Journal article Restricted access
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dc.contributor.authorBourbon, M.
dc.contributor.authorAlves, A.C.
dc.contributor.authorAlonso, R.
dc.contributor.authorMata, N.
dc.contributor.authorAguiar, P.
dc.contributor.authorPadró, T.
dc.contributor.authorMata, P.
dc.date.accessioned2017-11-03T16:24:53Z
dc.date.available2021-07-01T00:30:11Z
dc.date.issued2017-07
dc.description.abstractBackground and aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. Methods: The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families. Statistical analysis was performed using SPSS v23. Results: A total of 194 variants have been detected in this study, 24 of them were never described before. About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have a more severe phenotype than patients with defective variants, presenting with significantly higher levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B). Conclusions: This study shows the molecular characteristics of the FH patients included in the SAFEHEART registry and the relationship with the phenotypic expression. The majority of the genetic variants are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the entry and follow-up data analysis performed with this registry concerning FH patients' prognosis, treatment and survival.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAtherosclerosis. 2017 Jul;262:8-13. doi: 10.1016/j.atherosclerosis.2017.04.002. Epub 2017 Apr 6pt_PT
dc.identifier.doi10.1016/j.atherosclerosis.2017.04.002pt_PT
dc.identifier.issn0021-9150
dc.identifier.urihttp://hdl.handle.net/10400.18/4812
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0021915017301491pt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectMutational Analysispt_PT
dc.subjectNull Variantspt_PT
dc.subjectDefective Variantspt_PT
dc.subjectAtherogenic Lipoprotein Particlespt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleMutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registrypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage13pt_PT
oaire.citation.startPage8pt_PT
oaire.citation.titleAtherosclerosispt_PT
oaire.citation.volumeVolume 262pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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