A common mutation of cholesteryl ester transfer protein gene in dialysis patients

Kidney Int Suppl. 1999 Jul:71:S186-9. doi: 10.1046/j.1523-1755.1999.07148.x.

Abstract

Background: In patients on maintenance hemodialysis, a decreased concentration of high-density lipoprotein cholesterol (HDL-C) is an apparent independent risk factor for vascular disease (VD). A common missense mutation of cholesteryl ester transfer protein (CETP) gene, D442G (Asp442 to Gly), increases HDL-C levels, but the mutation may also diminish the activity of reverse cholesterol transport.

Methods: We compared the genotype distribution of the D442G polymorphism and postprandial serum lipid levels between patients with and without VD in 414 hemodialysis patients.

Results: Serum levels of total cholesterol and HDL-C did not differ in patients with the mutation [group M (+)] and without the mutation [group M (-)] and in patients with and without VD. However, patients with below median HDL-C levels (< 45 mg/dl) had a significantly higher prevalence of VD than those with above median HDL levels (26.0 vs. 15.2%, P < 0.01). Moreover, in this low-HDL-C subgroup, group M (+) patients had a significantly higher prevalence of VD than group M (-) patients (54.5 vs. 24.4%, P < 0.05). In the subgroup, group M (+) patients with VD had higher levels of total cholesterol and a higher atherogenic index than those without VD, whereas group M (-) patients with VD had lower levels of total cholesterol and a lower atherogenic index than those without VD.

Conclusions: The D442G mutation may be a risk factor for atherosclerotic complications in dialysis patients with HDL-C levels below 45 mg/dl. Atherogenic lipid profiles may promote atherosclerosis in the patients with the mutation, but not in those with no mutation.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution
  • Carrier Proteins / genetics*
  • Cholesterol Ester Transfer Proteins
  • Cholesterol, HDL / blood
  • Female
  • Genotype
  • Glycoproteins*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Polymorphism, Genetic
  • Renal Dialysis*
  • Risk Factors
  • Vascular Diseases / blood
  • Vascular Diseases / genetics

Substances

  • CETP protein, human
  • Carrier Proteins
  • Cholesterol Ester Transfer Proteins
  • Cholesterol, HDL
  • Glycoproteins