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Polygenic contribution for familial hypercholesterolemia (FH)

2021-12-01Journal article Restricted access
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dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2022-07-06T16:00:28Z
dc.date.available2022-07-06T16:00:28Z
dc.date.issued2021-12-01
dc.description.abstractAbstract: 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).pt_PT
dc.description.abstractRecent 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.pt_PT
dc.description.abstractSummary: 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.pt_PT
dc.description.sponsorshipA.M.M. was supported by a PhD fellowship (2016-2019) from Science and Technology Foundation (Ref. SFRH/BD/113017/2015).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCurr Opin Lipidol. 2021 Dec 1;32(6):392-395. doi: 10.1097/MOL.0000000000000787. Reviewpt_PT
dc.identifier.doi10.1097/MOL.0000000000000787pt_PT
dc.identifier.issn0957-9672
dc.identifier.urihttp://hdl.handle.net/10400.18/8074
dc.language.isoengpt_PT
dc.publisherWolters Kluwer Healthpt_PT
dc.relatione_FH. The role of epigenetics in Familial Hypercholesterolaemia phenotypes - towards a more precise medicine
dc.relation.publisherversionhttps://journals.lww.com/co-lipidology/Abstract/2021/12000/Polygenic_contribution_for_familial.11.aspxpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectGenetic risk scorept_PT
dc.subjectLPA variantspt_PT
dc.subjectPolygenic hypercholesterolaemiapt_PT
dc.titlePolygenic contribution for familial hypercholesterolemia (FH)pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitlee_FH. The role of epigenetics in Familial Hypercholesterolaemia phenotypes - towards a more precise medicine
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F113017%2F2015/PT
oaire.citation.endPage395pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage392pt_PT
oaire.citation.titleCurrent Opinion in Lipidologypt_PT
oaire.citation.volume32pt_PT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication86ef85c5-4329-4309-9bd5-6acd1938ea2c
relation.isProjectOfPublication.latestForDiscovery86ef85c5-4329-4309-9bd5-6acd1938ea2c

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