Polygenic contribution for familial hypercholesterolemia (FH)

Detalhes bibliográficos
Autor(a) principal: Medeiros, Ana Margarida
Data de Publicação: 2021
Outros Autores: Bourbon, Mafalda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8074
Resumo: Abstract: Purpose of review: The present review summarizes different polygenic risk scores associated with hypercholesterolemia applied to cohorts with a genetic diagnosis of familial hypercholesterolemia (FH).
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spelling Polygenic contribution for familial hypercholesterolemia (FH)Familial HypercholesterolaemiaGenetic risk scoreLPA variantsPolygenic hypercholesterolaemiaAbstract: Purpose of review: The present review summarizes different polygenic risk scores associated with hypercholesterolemia applied to cohorts with a genetic diagnosis of familial hypercholesterolemia (FH).Recent findings: Several single-nucleotide polymorphisms associated with increased levels of LDL-C or Lp(a) have been genotyped in population cohorts with FH phenotype, to identify the cause of hypercholesterolemia in mutation negative individuals. In different studies, a large proportion of individuals without a monogenic causative variant (in low density lipoprotein receptor gene (LDLR), apolipoprotein B gene (APOB) or proprotein convertase subtilisin/kexin type 9 gene (PCSK9 genes) was considered to have a hypercholesterolemia with a polygenic basis. The heterogeneity in the phenotype of monogenic FH may also be explained by polygenic contributions to LDL-C. The elevated LDL-C genetic risk score (GRS) has been associated with increased risk of atherosclerotic cardiovascular disease in individuals with monogenic FH. Moreover, a poorer response to lipid lowering therapy has been associated with monogenic FH when compared to a polygenic basis. The reason why Lp(a) concentrations are raised in individuals with clinical FH is unclear, but it could be caused by a genetic variation in Lipoprotein(A) gene as a polygenic contribution.Summary: Polygenic risk scores have revealed to be important tools to define the cause of hypercholesterolemia in FH mutation-negative individuals and should be included in FH diagnosis strategies, although there is still space for more specific LDL-C GRS to be developed. The use of GRS may be used to refine cardiovascular risk prediction in FH patients and could lead to a personalized approach to therapy. The identification of the genetic status of an individual with FH phenotype (monogenic or polygenic) may have implications on their risk stratification, cascade screening of relatives, disease management and therapeutic measures.A.M.M. was supported by a PhD fellowship (2016-2019) from Science and Technology Foundation (Ref. SFRH/BD/113017/2015).Wolters Kluwer HealthRepositório Científico do Instituto Nacional de SaúdeMedeiros, Ana MargaridaBourbon, Mafalda2022-07-06T16:00:28Z2021-12-012021-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8074engCurr Opin Lipidol. 2021 Dec 1;32(6):392-395. doi: 10.1097/MOL.0000000000000787. Review0957-967210.1097/MOL.0000000000000787info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:27Zoai:repositorio.insa.pt:10400.18/8074Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:42:52.421954Repositório 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 Polygenic contribution for familial hypercholesterolemia (FH)
title Polygenic contribution for familial hypercholesterolemia (FH)
spellingShingle Polygenic contribution for familial hypercholesterolemia (FH)
Medeiros, Ana Margarida
Familial Hypercholesterolaemia
Genetic risk score
LPA variants
Polygenic hypercholesterolaemia
title_short Polygenic contribution for familial hypercholesterolemia (FH)
title_full Polygenic contribution for familial hypercholesterolemia (FH)
title_fullStr Polygenic contribution for familial hypercholesterolemia (FH)
title_full_unstemmed Polygenic contribution for familial hypercholesterolemia (FH)
title_sort Polygenic contribution for familial hypercholesterolemia (FH)
author Medeiros, Ana Margarida
author_facet Medeiros, Ana Margarida
Bourbon, Mafalda
author_role author
author2 Bourbon, Mafalda
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Medeiros, Ana Margarida
Bourbon, Mafalda
dc.subject.por.fl_str_mv Familial Hypercholesterolaemia
Genetic risk score
LPA variants
Polygenic hypercholesterolaemia
topic Familial Hypercholesterolaemia
Genetic risk score
LPA variants
Polygenic hypercholesterolaemia
description Abstract: Purpose of review: The present review summarizes different polygenic risk scores associated with hypercholesterolemia applied to cohorts with a genetic diagnosis of familial hypercholesterolemia (FH).
publishDate 2021
dc.date.none.fl_str_mv 2021-12-01
2021-12-01T00:00:00Z
2022-07-06T16:00:28Z
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/10400.18/8074
url http://hdl.handle.net/10400.18/8074
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Curr Opin Lipidol. 2021 Dec 1;32(6):392-395. doi: 10.1097/MOL.0000000000000787. Review
0957-9672
10.1097/MOL.0000000000000787
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
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dc.publisher.none.fl_str_mv Wolters Kluwer Health
publisher.none.fl_str_mv Wolters Kluwer Health
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
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