Rosa M. Corbo, Renato Scacchi, Teresio Vilardo, Maria Ruggeri
Polymorphisms in the Apolipoprotein E Gene Regulatory Region in Relation to Coronary Heart Disease and Their Effect on Plasma Apolipoprotein E
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.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 39, 02/2001
Pages: 2 - 6
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