Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry
Autor(a) principal: | |
---|---|
Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/4812 |
Resumo: | Background 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. |
id |
RCAP_89d1a26fa6ded90840d90ad02a1f34a0 |
---|---|
oai_identifier_str |
oai:repositorio.insa.pt:10400.18/4812 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registryFamilial HypercholesterolemiaMutational AnalysisNull VariantsDefective VariantsAtherogenic Lipoprotein ParticlesDoenças Cardio e Cérebro-vascularesBackground 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.ElsevierRepositório Científico do Instituto Nacional de SaúdeBourbon, M.Alves, A.C.Alonso, R.Mata, N.Aguiar, P.Padró, T.Mata, P.2021-07-01T00:30:11Z2017-072017-07-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4812engAtherosclerosis. 2017 Jul;262:8-13. doi: 10.1016/j.atherosclerosis.2017.04.002. Epub 2017 Apr 60021-915010.1016/j.atherosclerosis.2017.04.002info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:28Zoai:repositorio.insa.pt:10400.18/4812Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:29.080060Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
title |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
spellingShingle |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry Bourbon, M. Familial Hypercholesterolemia Mutational Analysis Null Variants Defective Variants Atherogenic Lipoprotein Particles Doenças Cardio e Cérebro-vasculares |
title_short |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
title_full |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
title_fullStr |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
title_full_unstemmed |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
title_sort |
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry |
author |
Bourbon, M. |
author_facet |
Bourbon, M. Alves, A.C. Alonso, R. Mata, N. Aguiar, P. Padró, T. Mata, P. |
author_role |
author |
author2 |
Alves, A.C. Alonso, R. Mata, N. Aguiar, P. Padró, T. Mata, P. |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Bourbon, M. Alves, A.C. Alonso, R. Mata, N. Aguiar, P. Padró, T. Mata, P. |
dc.subject.por.fl_str_mv |
Familial Hypercholesterolemia Mutational Analysis Null Variants Defective Variants Atherogenic Lipoprotein Particles Doenças Cardio e Cérebro-vasculares |
topic |
Familial Hypercholesterolemia Mutational Analysis Null Variants Defective Variants Atherogenic Lipoprotein Particles Doenças Cardio e Cérebro-vasculares |
description |
Background 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. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-07 2017-07-01T00:00:00Z 2021-07-01T00:30:11Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/4812 |
url |
http://hdl.handle.net/10400.18/4812 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Atherosclerosis. 2017 Jul;262:8-13. doi: 10.1016/j.atherosclerosis.2017.04.002. Epub 2017 Apr 6 0021-9150 10.1016/j.atherosclerosis.2017.04.002 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799132134400589824 |