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No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis
S V Ramagopalan1, G C Deluca, K M Morrison
1Department of Clinical Neurology, University of Oxford, UK.
Abstract:
Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for its variability in disease outcome. Apolipoprotein E (APOE) is involved in neuronal remodelling and several studies have attempted to examine the effect of APOE on MS disease severity, but its function in modifying the course of MS is controversial. It has been suggested recently that PVRL2, not APOE, is the locus on chromosome 19 which influences clinical outcome of MS. A cohort of sporadic MS cases, taken from opposite extremes of the putative distribution of long-term outcome using the most stringent clinical criteria to date, was used to determine the role of APOE and PVRL2 on MS disease severity. The MS cases selected represent the prognostic best 5% (benign MS) and worst 5% (malignant MS) of cases in terms of clinical outcome assessed by the EDSS. Genotyping the two sets of MS patients (112 benign and 51 malignant) and a replication cohort from Sardinia provided no evidence to suggest that APOE or PVRL2 have any outcome modifying activity. We conclude that APOE and PVRL2 have little or no effect on the clinical outcome of MS.
Insights
This study investigated the role of Apolipoprotein E (APOE) and PVRL2 in multiple sclerosis (MS) severity. Researchers found no evidence that APOE or PVRL2 influence the clinical outcome or disease progression in MS patients.
Area of Science:
- Neuroimmunology
- Genetics of Neurological Disorders
Background:
- Multiple sclerosis (MS) is a central nervous system inflammatory disease with highly variable outcomes.
- Apolipoprotein E (APOE) is implicated in neuronal repair, but its role in MS severity is debated.
- Recent research suggested PVRL2, not APOE, as a potential modifier of MS clinical course.
Purpose of the Study:
- To investigate the influence of Apolipoprotein E (APOE) and PVRL2 genes on the disease severity and clinical outcome of multiple sclerosis (MS).
- To examine the genetic association of APOE and PVRL2 in extreme cohorts of benign and malignant MS cases.
Main Methods:
- Genotyping was performed on cohorts of patients with benign MS (best 5% outcome) and malignant MS (worst 5% outcome), defined by Expanded Disability Status Scale (EDSS).
- A replication cohort from Sardinia was included to validate findings.
- Statistical analysis was used to assess the association between APOE/PVRL2 genotypes and MS disease severity.
Main Results:
- Genotyping of extreme MS cohorts (112 benign, 51 malignant) and a replication cohort showed no statistically significant evidence for the involvement of APOE or PVRL2 in modifying MS disease outcome.
- The study found no association between the investigated genetic loci and the clinical course of multiple sclerosis.
Conclusions:
- Apolipoprotein E (APOE) and PVRL2 genes appear to have minimal to no impact on the clinical outcome or disease severity in multiple sclerosis.
- These findings do not support the hypothesis that APOE or PVRL2 are significant genetic determinants of MS prognosis.
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