biostudies-literatureMinta KVetenskapsrådetSkåne University Hospital FoundationKnut och Alice Wallenbergs StiftelseStrategic Research Area Multipark (Multidisciplinary Research in Parkinson's disease)Swedish Alzheimer FoundationParkinsonfondenMarianne and Marcus Wallenberg FoundationParkinson Research FoundationEuropean Research CouncilThe Swedish federal goverment under the ALF agreementStiftelsen för Gamla TjänarinnorMedical Research CouncilHjärnfondenStrategic Research Area MultiparkSwedish State Support for Clinical Research19https://www.ebi.ac.uk/biostudies/studies/S-EPMC7020540biostudies-literatureUnknown12(1)<h4>Background</h4>The human APOE gene, which codes for apolipoprotein E (apoE), has three major polymorphic alleles: ε2, ε3, and ε4 that give rise to amino acid substitutions. APOE-ε4 is a strong risk factor of sporadic Alzheimer's disease (AD) but the reason why is still unknown despite intense research for more than 20 years. The aim of the study was to investigate if the concentrations of total apoE and the specific apoE isoforms in cerebrospinal fluid (CSF) differ between various neurodegenerative diseases and control individuals, as well as among the APOE genotypes.<h4>Methods</h4>Quantification of total apoE and specific apoE isoforms (E2, E3, and E4) in CSF was performed using high-resolution parallel reaction monitoring mass spectrometry. In total, 1820 individuals were involved iAlzheimer's research & therapyQuantification of total apolipoprotein E and its isoforms in cerebrospinal fluid from patients with neurodegenerative diseases.PMC70205402018-02532FO2017-0243ALFGBG-7209312017-00915UKDRI-1003-AF-742881Janelidze SBrinkmalm GPortelius ESjodin SHansson OAndreasson UMinta KZetterberg HStomrud EBlennow KfalseQuantification of total apolipoprotein E and its isoforms in cerebrospinal fluid from patients with neurodegenerative diseases.<h4>Background</h4>The human APOE gene, which codes for apolipoprotein E (apoE), has three major polymorphic alleles: ε2, ε3, and ε4 that give rise to amino acid substitutions. APOE-ε4 is a strong risk factor of sporadic Alzheimer's disease (AD) but the reason why is still unknown despite intense research for more than 20 years. The aim of the study was to investigate if the concentrations of total apoE and the specific apoE isoforms in cerebrospinal fluid (CSF) differ between various neurodegenerative diseases and control individuals, as well as among the APOE genotypes.<h4>Methods</h4>Quantification of total apoE and specific apoE isoforms (E2, E3, and E4) in CSF was performed using high-resolution parallel reaction monitoring mass spectrometry. In total, 1820 individuals were involved i2020-01-01T00:00:00Z2020 Feb2025-04-18T15:51:53.121Z2020-05-22T10:43:45ZS-EPMC70205403205453210.1186/s13195-020-00585-7