Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly

Citation
Am. Dupuy et al., Discrepancies between apolipoprotein E phenotyping and genotyping in the elderly, CLIN CH L M, 39(5), 2001, pp. 405-413
Citations number
74
Categorie Soggetti
Medical Research Diagnosis & Treatment
Journal title
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
ISSN journal
14346621 → ACNP
Volume
39
Issue
5
Year of publication
2001
Pages
405 - 413
Database
ISI
SICI code
1434-6621(200105)39:5<405:DBAEPA>2.0.ZU;2-N
Abstract
We estimated the frequencies of phenotype (isoelectric focusing; IEF) vs, g enotype (PCR/Hhal) discordance in a sample of an aged population (> 65 year s). Both phenotype and genotype techniques have been used in the study of a polipoprotein 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 associatio n between the presence of the E4 allele and both Alzheimer's disease (chi ( 2) = 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-transductiona l modifications in normal ageing and in aged-related diseases may explain i n part discrepancies between gene analysis and protein characterisation.