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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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IMPACT FACTOR 2014: 2.707
Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2014: 0.741
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Impact per Publication (IPP) 2014: 2.310



Discrepancies between Apolipoprotein E Phenotyping and Genotyping in the Elderly

Anne Marie Dupuy / Stéphanie Badiou / Karen Ritchie / Emilie Mas / Bernard Descomps / Jean Paul Cristol / Jacques Touchon

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 39, Issue 5, Pages 405–413, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2001.065, June 2005

Publication History

Published Online:


We estimated the frequencies of phenotype (isoelectric focusing; IEF) vs. genotype (PCR/HhaI) 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 (χ2=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.

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