PMID- 24992828 OWN - NLM STAT- MEDLINE DCOM- 20150114 LR - 20140716 IS - 1744-8387 (Electronic) IS - 1478-9450 (Linking) VI - 11 IP - 4 DP - 2014 Aug TI - How proteomic ApoE serotyping could impact Alzheimer's disease risk assessment: genetic testing by proteomics. PG - 405-7 LID - 10.1586/14789450.2014.936390 [doi] AB - Humans have three major apolipoprotein E (ApoE) alleles (APOE; epsilon2, epsilon3 and epsilon4) that produce three ApoE protein isoforms. The epsilon2 allele encodes the ApoE2 isoform (Cys112, Cys158), whereas epsilon3 encodes the wild-type ApoE3 isoform (Cys112, Arg158) and epsilon4 encodes the ApoE4 isoform (Arg112, Arg158). Because the type of ApoE expressed is related to sporadic Alzheimer's disease risk and familial hyperlipidemia, many clinical studies have utilized ApoE typing in recent years. ApoE serotyping is based on the correlation between ApoE genotype and isoform; it is therefore possible to determine the genotype from the blood ApoE isoform combination. Serotyping ApoE using mass spectrometry promises highly accurate results while requiring minimal amounts of blood and reagents, resulting in lower costs, which suggest that proteomic-based ApoE serotyping may eventually become a routine clinical laboratory test. Not limited to ApoE, proteomic analysis of human samples could be used to intentionally determine - and perhaps unintentionally reveal - personal genetic information. FAU - Nishimura, Motoi AU - Nishimura M AD - Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University, Chiba, Japan. FAU - Satoh, Mamoru AU - Satoh M FAU - Matsushita, Kazuyuki AU - Matsushita K FAU - Nomura, Fumio AU - Nomura F LA - eng PT - Editorial PT - Research Support, Non-U.S. Gov't DEP - 20140704 PL - England TA - Expert Rev Proteomics JT - Expert review of proteomics JID - 101223548 RN - 0 (Apolipoproteins E) RN - 0 (Protein Isoforms) SB - IM MH - Alzheimer Disease/*diagnosis MH - Apolipoproteins E/*blood/classification MH - Genetic Testing MH - Humans MH - Hyperlipidemias/diagnosis MH - Molecular Diagnostic Techniques/economics/*methods MH - Protein Isoforms MH - Proteomics/economics/*methods OTO - NOTNLM OT - APOEepsilon2 allele OT - APOEepsilon4 allele OT - ApoE2 isoform OT - ApoE4 isoform OT - apolipoprotein E OT - dementia risk OT - familial hyperlipidemia OT - genetic testing OT - proteomics OT - sporadic Alzheimer disease EDAT- 2014/07/06 06:00 MHDA- 2015/01/15 06:00 CRDT- 2014/07/05 06:00 PHST- 2014/07/05 06:00 [entrez] PHST- 2014/07/06 06:00 [pubmed] PHST- 2015/01/15 06:00 [medline] AID - 10.1586/14789450.2014.936390 [doi] PST - ppublish SO - Expert Rev Proteomics. 2014 Aug;11(4):405-7. doi: 10.1586/14789450.2014.936390. Epub 2014 Jul 4.