Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

Eur J Hum Genet. 2018 Apr;26(4):570-578. doi: 10.1038/s41431-017-0078-y. Epub 2018 Jan 26.

Abstract

Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. Polygenic forms of hypercholesterolemia may be present among patients clinically diagnosed with FH but with no identified mutation (FH mutation-negative (FH/M-)). To address whether polygenic forms may explain phenocopies in FH families, we calculated a 6-single-nucleotide polymorphism (SNP) genetic risk score (GRS) in all members from five French FH families where a mutation was identified (FH/M+) as well as some phenocopies (FH/M-). In two families, three FH/M- patients present a high GRS suggesting a polygenic hypercholesterolemia for these phenocopies. However, a high GRS is also observed in nine FH/M+ patients and in four unaffected relatives from three families. These observations indicate that the GRS does not seem to be a good diagnostic tool at the individual level. Nevertheless, the GRS seems to be a contributor of the severity of hypercholesterolemia since patients who cumulate a mutation and a high GRS exhibit higher low-density lipoprotein cholesterol levels when compared to patients with only FH (p = 0.054) or only polygenic hypercholesterolemia (p = 0.0039). In conclusion, the GRS can be used as a marker of the severity of hypercholesterolemia but does not seem to be a reliable tool to distinguish phenocopies within FH families.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apolipoprotein B-100 / genetics
  • Apolipoproteins E / genetics
  • Genetic Predisposition to Disease*
  • Genetic Testing / standards*
  • Humans
  • Hypercholesterolemia / genetics*
  • Multifactorial Inheritance
  • Phenotype*
  • Polymorphism, Single Nucleotide
  • Proprotein Convertase 9 / genetics

Substances

  • APOB protein, human
  • ApoE protein, human
  • Apolipoprotein B-100
  • Apolipoproteins E
  • PCSK9 protein, human
  • Proprotein Convertase 9