Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing

Detalhes bibliográficos
Autor(a) principal: Latkovskis, Gustavs
Data de Publicação: 2023
Outros Autores: Rescenko-Krums, Raimonds, Nesterovics, Georgijs, Briviba, Monta, Saripo, Vita, Gilis, Dainus, Terauda, Elizabete, Meiere, Ruta, Skudrina, Gunda, Erglis, Andrejs, Chora, Joana Rita, Bourbon, Mafalda, Klovins, Janis
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8727
Resumo: This article belongs to the Special Issue New Possibilities for the Treatment of Dyslipidemias
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spelling Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide SequencingFamilial HhypercholesterolemiaLow-density Lipoprotein Cholesterol;Genetic StudyMonogenicWhole-genome SequencingRegistryDoenças Cardio e Cérebro-vascularesThis article belongs to the Special Issue New Possibilities for the Treatment of DyslipidemiasBackground: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH). Methods: Whole genome sequencing with 30 coverage was performed in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR, APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed. Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results: Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 1.60 mmol/L, and 79.1% of patients had LDL-cholesterol 6.50 mmol/L. A total of 15 P/LP variants were found in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally, 24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing.This research is funded by the Latvian Council of Science, project “Low-coverage whole-genome sequencing analysis of polygenic mechanisms of high cholesterol levels in patients with clinically diagnosed or possible familial hypercholesterolemia”, project No. lzp-2020/1-0151.MDPIRepositório Científico do Instituto Nacional de SaúdeLatkovskis, GustavsRescenko-Krums, RaimondsNesterovics, GeorgijsBriviba, MontaSaripo, VitaGilis, DainusTerauda, ElizabeteMeiere, RutaSkudrina, GundaErglis, AndrejsChora, Joana RitaBourbon, MafaldaKlovins, Janis2023-10-17T10:45:21Z2023-08-072023-08-07T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8727engJ Clin Med. 2023 Aug 7;12(15):5160. doi: 10.3390/jcm121551602077-038310.3390/jcm12155160info: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:RCAAP2023-10-21T01:30:23Zoai:repositorio.insa.pt:10400.18/8727Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:39:08.306779Repositório 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 Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
title Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
spellingShingle Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
Latkovskis, Gustavs
Familial Hhypercholesterolemia
Low-density Lipoprotein Cholesterol;
Genetic Study
Monogenic
Whole-genome Sequencing
Registry
Doenças Cardio e Cérebro-vasculares
title_short Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
title_full Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
title_fullStr Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
title_full_unstemmed Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
title_sort Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
author Latkovskis, Gustavs
author_facet Latkovskis, Gustavs
Rescenko-Krums, Raimonds
Nesterovics, Georgijs
Briviba, Monta
Saripo, Vita
Gilis, Dainus
Terauda, Elizabete
Meiere, Ruta
Skudrina, Gunda
Erglis, Andrejs
Chora, Joana Rita
Bourbon, Mafalda
Klovins, Janis
author_role author
author2 Rescenko-Krums, Raimonds
Nesterovics, Georgijs
Briviba, Monta
Saripo, Vita
Gilis, Dainus
Terauda, Elizabete
Meiere, Ruta
Skudrina, Gunda
Erglis, Andrejs
Chora, Joana Rita
Bourbon, Mafalda
Klovins, Janis
author2_role author
author
author
author
author
author
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 Latkovskis, Gustavs
Rescenko-Krums, Raimonds
Nesterovics, Georgijs
Briviba, Monta
Saripo, Vita
Gilis, Dainus
Terauda, Elizabete
Meiere, Ruta
Skudrina, Gunda
Erglis, Andrejs
Chora, Joana Rita
Bourbon, Mafalda
Klovins, Janis
dc.subject.por.fl_str_mv Familial Hhypercholesterolemia
Low-density Lipoprotein Cholesterol;
Genetic Study
Monogenic
Whole-genome Sequencing
Registry
Doenças Cardio e Cérebro-vasculares
topic Familial Hhypercholesterolemia
Low-density Lipoprotein Cholesterol;
Genetic Study
Monogenic
Whole-genome Sequencing
Registry
Doenças Cardio e Cérebro-vasculares
description This article belongs to the Special Issue New Possibilities for the Treatment of Dyslipidemias
publishDate 2023
dc.date.none.fl_str_mv 2023-10-17T10:45:21Z
2023-08-07
2023-08-07T00:00:00Z
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/10400.18/8727
url http://hdl.handle.net/10400.18/8727
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Clin Med. 2023 Aug 7;12(15):5160. doi: 10.3390/jcm12155160
2077-0383
10.3390/jcm12155160
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 MDPI
publisher.none.fl_str_mv MDPI
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
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