Polygenic contribution for familial hypercholesterolemia (FH)


Journal article


A. Medeiros, M. Bourbon
Current opinion in lipidology, vol. 32(6), 2021, pp. 392-395


Semantic Scholar DOI PubMed
Cite

Cite

APA   Click to copy
Medeiros, A., & Bourbon, M. (2021). Polygenic contribution for familial hypercholesterolemia (FH). Current Opinion in Lipidology, 32(6), 392–395. https://doi.org/10.1097/MOL.0000000000000787


Chicago/Turabian   Click to copy
Medeiros, A., and M. Bourbon. “Polygenic Contribution for Familial Hypercholesterolemia (FH).” Current opinion in lipidology 32, no. 6 (2021): 392–395.


MLA   Click to copy
Medeiros, A., and M. Bourbon. “Polygenic Contribution for Familial Hypercholesterolemia (FH).” Current Opinion in Lipidology, vol. 32, no. 6, 2021, pp. 392–95, doi:10.1097/MOL.0000000000000787.


BibTeX   Click to copy

@article{a2021a,
  title = {Polygenic contribution for familial hypercholesterolemia (FH)},
  year = {2021},
  issue = {6},
  journal = {Current opinion in lipidology},
  pages = {392-395},
  volume = {32},
  doi = {10.1097/MOL.0000000000000787},
  author = {Medeiros, A. and Bourbon, M.}
}

Abstract

Purpose of review The present review summarizes different polygenic risk scores associated with hypercholesterolemia applied to cohorts with a genetic diagnosis of familial hypercholesterolemia (FH). Recent findings Several single-nucleotide polymorphisms associated with increased levels of LDL-C or Lp(a) have been genotyped in population cohorts with FH phenotype, to identify the cause of hypercholesterolemia in mutation negative individuals. In different studies, a large proportion of individuals without a monogenic causative variant (in low density lipoprotein receptor gene (LDLR), apolipoprotein B gene (APOB) or proprotein convertase subtilisin/kexin type 9 gene (PCSK9 genes) was considered to have a hypercholesterolemia with a polygenic basis. The heterogeneity in the phenotype of monogenic FH may also be explained by polygenic contributions to LDL-C. The elevated LDL-C genetic risk score (GRS) has been associated with increased risk of atherosclerotic cardiovascular disease in individuals with monogenic FH. Moreover, a poorer response to lipid lowering therapy has been associated with monogenic FH when compared to a polygenic basis. The reason why Lp(a) concentrations are raised in individuals with clinical FH is unclear, but it could be caused by a genetic variation in Lipoprotein(A) gene as a polygenic contribution. Summary Polygenic risk scores have revealed to be important tools to define the cause of hypercholesterolemia in FH mutation-negative individuals and should be included in FH diagnosis strategies, although there is still space for more specific LDL-C GRS to be developed. The use of GRS may be used to refine cardiovascular risk prediction in FH patients and could lead to a personalized approach to therapy. The identification of the genetic status of an individual with FH phenotype (monogenic or polygenic) may have implications on their risk stratification, cascade screening of relatives, disease management and therapeutic measures.


Share



Follow this website


You need to create an Owlstown account to follow this website.


Sign up

Already an Owlstown member?

Log in