Familial combined hyperlipidemia is a polygenic trait.
Journal
Current opinion in lipidology
ISSN: 1473-6535
Titre abrégé: Curr Opin Lipidol
Pays: England
ID NLM: 9010000
Informations de publication
Date de publication:
01 04 2022
01 04 2022
Historique:
pubmed:
26
10
2021
medline:
3
5
2022
entrez:
25
10
2021
Statut:
ppublish
Résumé
: Familial combined hyperlipidemia (FCH), defined by concurrently elevated plasma triglyceride (TG) and low-density lipoprotein (LDL) cholesterol, has long been investigated to characterize its genetic basis. Despite almost half a century of searching, a single gene cause for the phenotype has not yet been identified. : Recent studies using next-generation genetic analytic methods confirm that FCH has a polygenic basis, with a clear large contribution from the accumulation of small-to-moderate effect common single nucleotide polymorphisms (SNPs) throughout the genome that is associated with raising TG, and probably also those raising LDL cholesterol. On the other hand, rare monogenic variants, such as those causing familial hypercholesterolemia, play a negligible role, if any. Genetic profiling suggests that patients with FCH and hypertriglyceridemia share a strong polygenic basis and show a similar profile of multiple TG-raising common SNPs. : Recent progress in genomics has shown that most if not all of the genetic susceptibility to FCH is polygenic in nature. Future research should include larger cohort studies, with wider ancestral diversity, ancestry-specific polygenic scores, and investigation of epigenetic and lifestyle factors to help further elucidate the causative agents at play in cases where the genetic etiology remains to be defined.
Identifiants
pubmed: 34690300
doi: 10.1097/MOL.0000000000000796
pii: 00041433-202204000-00007
doi:
Substances chimiques
Cholesterol, LDL
0
Triglycerides
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
126-132Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
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