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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
- Source :
-
Journal of personalized medicine [J Pers Med] 2021 Nov 19; Vol. 11 (11). Date of Electronic Publication: 2021 Nov 19. - Publication Year :
- 2021
-
Abstract
- The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjects with a familial-hypercholesterolemia phenotype). For patients without functionally significant substitutions in the above genes, multiplex ligation-dependent probe amplification was conducted to determine bigger mutations (deletions and/or duplications) in the LDLR promoter and exons. A clinically significant variant in some gene associated with familial hypercholesterolemia was identified in 47.5% of the subjects. Clinically significant variants in the LDLR gene were identified in 19 probands (73.1% of all variants identified in probands); in three probands (11.5%), pathogenic variants were found in the APOB gene; and in four probands (15.4%), rare, clinically significant variants were identified in genes LPL , SREBF1 , APOC3 , and ABCG5 . In 12 (85.7%) of 14 children of the probands, clinically significant variants were detectable in genes associated with familial hypercholesterolemia. The use of clinical criteria, targeted sequencing, and multiplex ligation-dependent probe amplification makes it possible to identify carriers of rare clinically significant variants in a wide range of lipid metabolism genes and to investigate their influence on phenotypic manifestations of familial hypercholesterolemia.
Details
- Language :
- English
- ISSN :
- 2075-4426
- Volume :
- 11
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Journal of personalized medicine
- Publication Type :
- Academic Journal
- Accession number :
- 34834584
- Full Text :
- https://doi.org/10.3390/jpm11111232