Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly.
We estimated the frequencies of phenotype (isoelectric focusing; IEF) vs. genotype (PCR/Hhal) discordance in a sample of an aged population (> 65 years). Both phenotype and genotype techniques have been used in the study of apolipoprotein E (apoE) polymorphism in 125 elderly subjects. The discordance between phenotype and genotype was unresolved in 11 (8.8%) of the 125 unrelated subjects studied. We observed a significant association between the presence of the E4 allele and both Alzheimer's disease (chi2 = 13, p < 0.001) and increased cholesterol concentration (Mann Whitney, p < 0.03). These relationships were not affected by the techniques used. Our results indicate that transcriptional modulation and post-transductional modifications in normal ageing and in aged-related diseases may explain in part discrepancies between gene analysis and protein characterisation.
Dupuy
A M
AM
Department of Biochemistry, Lapeyronie Hospital, Montpellier, France.
Badiou
S
S
Ritchie
K
K
Mas
E
E
Descomps
B
B
Cristol
J P
JP
Touchon
J
J
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004247:DNA / Q000032:analysis; D017931:DNA Primers; D005260:Female; D005838:Genotype; D006801:Humans; D007525:Isoelectric Focusing; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014280:Triglycerides / Q000097:blood
D001057:Apolipoproteins E; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D017931:DNA Primers; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D004247:DNA; D002784:Cholesterol