Update of the Portuguese Familial Hypercholesterolaemia Study
Autor(a) principal: | |
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Data de Publicação: | 2010 |
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/10400.18/234 |
Resumo: | The main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH). A total of 1340 blood samples were collected from 482 index patients and 858 relatives with the collaboration of clinicians from several hospitals all over the country. The genetic diagnosis of FH in this study is based on the analyses of three genes: LDLR, APOB and PCSK9. In the last 10 years, the Portuguese FH Study identified a genetic defect in a total of 171 index patients, corresponding to an overall of 48% of the total received cases with clinical diagnosis of FH. Although the Simon Broome FH register criteria have been adapted to our study, 59 patients that did not fulfil all criteria were included in the study and a mutation causing disease was identified in 8 of these patients. In the LDLR gene were found 80 different mutations in 165 unrelated index patients: 159 heterozygous, 3 compounds heterozygous and 3 true homozygous. The APOB p.Arg3527Gln and the PCSK9 p.Asp374His mutation were not found in any of our patients since our last report, but a novel mutation in the APOB gene, predicted to cause a single amino acid substitution p.Tyr3560Cys, was found in one patient. The cascade screening in relatives of these 171 index patients allowed the identification and genetic characterization of a total of 404 FH patients in Portugal. |
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Update of the Portuguese Familial Hypercholesterolaemia StudyFamilial HypercholesterolaemiaLow density lipoprotein receptorCholesterolCoronary heart diseaseMutationCascade screeningDoenças Cardio e Cérebro-vascularesThe main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH). A total of 1340 blood samples were collected from 482 index patients and 858 relatives with the collaboration of clinicians from several hospitals all over the country. The genetic diagnosis of FH in this study is based on the analyses of three genes: LDLR, APOB and PCSK9. In the last 10 years, the Portuguese FH Study identified a genetic defect in a total of 171 index patients, corresponding to an overall of 48% of the total received cases with clinical diagnosis of FH. Although the Simon Broome FH register criteria have been adapted to our study, 59 patients that did not fulfil all criteria were included in the study and a mutation causing disease was identified in 8 of these patients. In the LDLR gene were found 80 different mutations in 165 unrelated index patients: 159 heterozygous, 3 compounds heterozygous and 3 true homozygous. The APOB p.Arg3527Gln and the PCSK9 p.Asp374His mutation were not found in any of our patients since our last report, but a novel mutation in the APOB gene, predicted to cause a single amino acid substitution p.Tyr3560Cys, was found in one patient. The cascade screening in relatives of these 171 index patients allowed the identification and genetic characterization of a total of 404 FH patients in Portugal.ElsevierRepositório Científico do Instituto Nacional de SaúdeMedeiros, A.M.Alves, A.C.Francisco, V.Bourbon, M.Investigators of the Portuguese FH Study2011-09-26T12:11:28Z2010-102010-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/234engAtherosclerosis. 2010 Oct;212(2):553-8. Epub 2010 Aug 8.0021-9150doi:10.1016/j.atherosclerosis.2010.07.012info: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:RCAAP2023-07-20T15:38:05Zoai:repositorio.insa.pt:10400.18/234Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:28.537682Repositório 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 |
Update of the Portuguese Familial Hypercholesterolaemia Study |
title |
Update of the Portuguese Familial Hypercholesterolaemia Study |
spellingShingle |
Update of the Portuguese Familial Hypercholesterolaemia Study Medeiros, A.M. Familial Hypercholesterolaemia Low density lipoprotein receptor Cholesterol Coronary heart disease Mutation Cascade screening Doenças Cardio e Cérebro-vasculares |
title_short |
Update of the Portuguese Familial Hypercholesterolaemia Study |
title_full |
Update of the Portuguese Familial Hypercholesterolaemia Study |
title_fullStr |
Update of the Portuguese Familial Hypercholesterolaemia Study |
title_full_unstemmed |
Update of the Portuguese Familial Hypercholesterolaemia Study |
title_sort |
Update of the Portuguese Familial Hypercholesterolaemia Study |
author |
Medeiros, A.M. |
author_facet |
Medeiros, A.M. Alves, A.C. Francisco, V. Bourbon, M. Investigators of the Portuguese FH Study |
author_role |
author |
author2 |
Alves, A.C. Francisco, V. Bourbon, M. Investigators of the Portuguese FH Study |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Medeiros, A.M. Alves, A.C. Francisco, V. Bourbon, M. Investigators of the Portuguese FH Study |
dc.subject.por.fl_str_mv |
Familial Hypercholesterolaemia Low density lipoprotein receptor Cholesterol Coronary heart disease Mutation Cascade screening Doenças Cardio e Cérebro-vasculares |
topic |
Familial Hypercholesterolaemia Low density lipoprotein receptor Cholesterol Coronary heart disease Mutation Cascade screening Doenças Cardio e Cérebro-vasculares |
description |
The main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH). A total of 1340 blood samples were collected from 482 index patients and 858 relatives with the collaboration of clinicians from several hospitals all over the country. The genetic diagnosis of FH in this study is based on the analyses of three genes: LDLR, APOB and PCSK9. In the last 10 years, the Portuguese FH Study identified a genetic defect in a total of 171 index patients, corresponding to an overall of 48% of the total received cases with clinical diagnosis of FH. Although the Simon Broome FH register criteria have been adapted to our study, 59 patients that did not fulfil all criteria were included in the study and a mutation causing disease was identified in 8 of these patients. In the LDLR gene were found 80 different mutations in 165 unrelated index patients: 159 heterozygous, 3 compounds heterozygous and 3 true homozygous. The APOB p.Arg3527Gln and the PCSK9 p.Asp374His mutation were not found in any of our patients since our last report, but a novel mutation in the APOB gene, predicted to cause a single amino acid substitution p.Tyr3560Cys, was found in one patient. The cascade screening in relatives of these 171 index patients allowed the identification and genetic characterization of a total of 404 FH patients in Portugal. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-10 2010-10-01T00:00:00Z 2011-09-26T12:11:28Z |
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/10400.18/234 |
url |
http://hdl.handle.net/10400.18/234 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Atherosclerosis. 2010 Oct;212(2):553-8. Epub 2010 Aug 8. 0021-9150 doi:10.1016/j.atherosclerosis.2010.07.012 |
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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132081413947392 |