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Polymorphisms in the Apolipoprotein E Gene Regulatory Region in Relation to Coronary Heart Disease and Their Effect on Plasma Apolipoprotein E

  • Rosa M. Corbo , Renato Scacchi , Teresio Vilardo and Maria Ruggeri
Published/Copyright: June 1, 2005
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Volume 39 Issue 1

Abstract

In a previous study which examined the distribution of apolipoprotein E genotypes and plasma levels in a sample of male coronary heart disease (CHD) patients and controls, we found a significant excess of the genotypes carrying APOE*4 allele in CHD men (18.2%) vs. controls (9.6%) and an association between the APOE*4 allele and the lowest concentrations of apoE. In the present investigation, we re-examined in the same samples two recently identified polymorphisms in the promoter region of APOE, −491A/T and −427T/C, which may alter the level of apoE expression. No differences in the distributions of the −491A/T genotypes and alleles were observed between cases and controls (−491*A = 0.760 and 0.757 respectively). Polymorphism −427T/C showed in CHD patients an excess of −427*C allele (patients vs. controls = 0.123 vs. 0.074) and corresponding genotypes that was marginally significant. Stratification of the samples according to the presence/absence of APOE*4 showed that the excess of the −427*C allele concerned only CHD patients not carrying APOE*4 allele (patients vs. controls = 0.133 vs. 0.061; p=0.017). This result suggests that the presence of −427*C allele could represent a risk for developing CHD in subjects with E2/E2, E3/E2, and E3/E3 genotypes. Studies carried out on patients with Alzheimer's disease demonstrated that −491A/T and −427T/C polymorphisms affect the level of plasma apoE. In the present study, carried out on CHD patients and controls, the genetic variation at −427 and −491 sites of the APOE regulatory region had no apparent effect on apoE plasma concentration.

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Published Online: 2005-06-01
Published in Print: 2001-02-21

Copyright © 2001 by Walter de Gruyter GmbH & Co. KG

Articles in the same Issue

  1. Editorial
  2. Polymorphisms in the Apolipoprotein E Gene Regulatory Region in Relation to Coronary Heart Disease and Their Effect on Plasma Apolipoprotein E
  3. Further Characterization of Serum Amyloid A4 as a Minor Acute Phase Reactant and a Possible Nutritional Marker
  4. Determination of Human Angiotensin Converting Enzyme (ACE) Gene Polymorphisms in Erectile Dysfunction: Frequency Differences of ACE Gene Polymorphisms according to the Method of Analysis
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  6. Determination of Glycerol in Plasma by an Automated Enzymatic Spectrophotometric Procedure
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  18. Report from the 50th Anniversary Congress of the Hungarian Society of Clinical Pathology and from the Executive Board Meeting of FESCC in Debrecen (Hungary)
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