Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
Autor(a) principal: | |
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Data de Publicação: | 2023 |
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/10400.18/8727 |
Resumo: | This article belongs to the Special Issue New Possibilities for the Treatment of Dyslipidemias |
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7160 |
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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) |
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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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1799133652189184000 |