Associations between SNPs in Intestinal Cholesterol Absorption and Endogenous Cholesterol Synthesis Genes with Cholesterol Metabolism

M.M. Schroor*, F.B.A. Mokhtar*, J. Plat, R.P. Mensink

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Single nucleotide polymorphisms (SNPs) have been associated with cholesterol metabolism and may partly explain large inter-individual variability in intestinal cholesterol absorption and endogenous cholesterol synthesis rates. This cross-sectional study therefore examined whether SNPs in genes encoding for proteins involved in intestinal cholesterol absorption (ABCG5, ABCG8, and NPC1L1) and endogenous cholesterol synthesis (CYP51A1, DHCR7, DHCR24, HMGCR, HSD17B7, LBR, and MSMO1) were associated with intestinal cholesterol absorption markers (total cholesterol (TC) standardized campesterol and sitosterol levels), an endogenous cholesterol synthesis marker (TC-standardized lathosterol levels), and serum low-density lipoprotein cholesterol (LDL-C) concentrations in a European cohort. ABCG5 (rs4245786) and the tag SNP ABCG8 (rs4245791) were significantly associated with serum campesterol and/or sitosterol levels. In contrast, NPC1L1 (rs217429 and rs217416) were significantly associated with serum lathosterol levels. The tag SNP in HMGCR (rs12916) and a SNP in LBR (rs12141732) were significantly associated with serum LDL-C concentrations. SNPs in the cholesterol absorption genes were not associated with serum LDL-C concentrations. SNPs in CYP51A1, DHCR24, HSD17B7, and MSMO1 were not associated with the serum non-cholesterol sterols and LDL-C concentrations. Given the variable efficiency of cholesterol-lowering interventions, the identification of SNPs associated with cholesterol metabolism could be a step forward towards personalized approaches.
Original languageEnglish
Article number1475
Number of pages14
JournalBiomedicines
Volume9
Issue number10
DOIs
Publication statusPublished - 1 Oct 2021

Keywords

  • genetic variants
  • genetics
  • cholesterol metabolism
  • cholesterol absorption
  • cholesterol biosynthesis
  • sterols
  • campesterol
  • sitosterol
  • lathosterol
  • DENSITY-LIPOPROTEIN CHOLESTEROL
  • GLAND TUMOR STEROLS
  • C1-LIKE 1 NPC1L1
  • SERUM-LIPIDS
  • PLANT STEROLS
  • ABCG5
  • MARKERS
  • HMGCR
  • POLYMORPHISMS
  • LATHOSTEROL

Fingerprint

Dive into the research topics of 'Associations between SNPs in Intestinal Cholesterol Absorption and Endogenous Cholesterol Synthesis Genes with Cholesterol Metabolism'. Together they form a unique fingerprint.

Cite this