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

2023-08-07Journal article Open access
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dc.contributor.authorLatkovskis, Gustavs
dc.contributor.authorRescenko-Krums, Raimonds
dc.contributor.authorNesterovics, Georgijs
dc.contributor.authorBriviba, Monta
dc.contributor.authorSaripo, Vita
dc.contributor.authorGilis, Dainus
dc.contributor.authorTerauda, Elizabete
dc.contributor.authorMeiere, Ruta
dc.contributor.authorSkudrina, Gunda
dc.contributor.authorErglis, Andrejs
dc.contributor.authorChora, Joana Rita
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorKlovins, Janis
dc.date.accessioned2023-10-17T10:45:21Z
dc.date.available2023-10-17T10:45:21Z
dc.date.issued2023-08-07
dc.descriptionThis article belongs to the Special Issue New Possibilities for the Treatment of Dyslipidemiaspt_PT
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipThis 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Med. 2023 Aug 7;12(15):5160. doi: 10.3390/jcm12155160pt_PT
dc.identifier.doi10.3390/jcm12155160pt_PT
dc.identifier.issn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.18/8727
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2077-0383/12/15/5160pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFamilial Hhypercholesterolemiapt_PT
dc.subjectLow-density Lipoprotein Cholesterol;pt_PT
dc.subjectGenetic Studypt_PT
dc.subjectMonogenicpt_PT
dc.subjectWhole-genome Sequencingpt_PT
dc.subjectRegistrypt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleGenetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencingpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue15pt_PT
oaire.citation.startPage5160pt_PT
oaire.citation.titleJournal of Clinical Medicinept_PT
oaire.citation.volume12pt_PT
rcaap.embargofctAcesso de acordo com a política editorial da revistapt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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