The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish

Arterioscler Thromb Vasc Biol. 2013 Feb;33(2):413-9. doi: 10.1161/ATVBAHA.112.245480. Epub 2012 Dec 13.

Abstract

Objective: To determine whether long-term exposure to moderate elevations in plasma plant sterol levels increases risk for atherosclerosis.

Methods and results: In Old Order Amish participants aged 18 to 85 years, with (n=110) and without (n=181) 1 copy of the ABCG8 G574R variant, we compared mean plasma levels of plant sterols and cholesterol precursors and carotid intima-media wall thickness. Carriers of a single 574R allele had increased plant sterol levels (eg, 35%-37% higher plasma levels of sitosterol, campesterol, and stigmasterol) and increased plant sterol/cholesterol ratios (P<0.001 for all). 574R carriers had significantly decreased levels of lathosterol and lanosterol, precursors in a pathway for endogenous cholesterol synthesis, suggesting that plant sterols may alter regulation of genes involved in cholesterol synthesis. The G574R variant was not associated with high-density lipoprotein cholesterol or low-density lipoprotein cholesterol levels. Compared with noncarriers, 574R carriers had decreased carotid intima-media wall thickness (0.62 versus 0.66 mm; age- and sex-adjusted P=0.03). Adjustment for body weight, blood pressure, and standard lipid measures (high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides) did not alter this association.

Conclusions: Although the G574R variant is associated with moderately elevated plant sterol levels, carriers of the 574R allele had modestly lower levels of carotid wall thickness compared with noncarriers.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amish / genetics*
  • Biomarkers / blood
  • Carotid Artery Diseases / blood
  • Carotid Artery Diseases / diagnosis
  • Carotid Artery Diseases / ethnology*
  • Carotid Artery Diseases / genetics*
  • Carotid Intima-Media Thickness
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Hypercholesterolemia / blood
  • Hypercholesterolemia / diagnosis
  • Hypercholesterolemia / ethnology*
  • Hypercholesterolemia / genetics*
  • Intestinal Diseases / blood
  • Intestinal Diseases / diagnosis
  • Intestinal Diseases / ethnology*
  • Intestinal Diseases / genetics*
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / ethnology*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Male
  • Middle Aged
  • Pennsylvania / epidemiology
  • Phenotype
  • Phytosterols / adverse effects
  • Phytosterols / blood*
  • Phytosterols / genetics
  • Risk Assessment
  • Risk Factors
  • Up-Regulation
  • Young Adult

Substances

  • ABCG8 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters
  • Biomarkers
  • Phytosterols

Supplementary concepts

  • Sitosterolemia