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Apoliprotein E and multiple sclerosis: impact of the epsilon-4 allele on susceptibility, clinical type and
P Høgh1, A Oturai, K Schreiber
1Department of Neurology, The Neuroscience Center, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
Abstract:
The purpose of this study was to investigate the relation between APOE genotype and Multiple Sclerosis (MS) in a genetically homogeneous population. We examined 240 patients consulting the MS-clinic during a period of 3 years (1996 - 1999). The mean age of the patients was 41.7 years (range 19 - 80 Y, SD 10.0 Y). As a measure of the progression rate (PR) the last registered Expanded Disability Status Scale (EDSS) score was divided by the time span (years) from disease onset until the latest assessment. The APOE genotype was determined from saliva and/or blood samples using PCR-techniques. The prevalence of different APOE genotypes was compared with the allele-distribution in a population of 361 persons from a Danish cross-sectional population study. The frequency of APOE-epsilon 4/epsilon 4 homozygotes was significantly higher in the MS-group as compared to controls (P<0.05, odds ratio: 2.3), whereas the frequency distribution of other genotypes did not differ significantly. The rate of progression was significantly faster in the APOE-epsilon 4/epsilon 4 homozygotes compared to other genotypes in the MS group (P<0.05). This study suggests that the APOE-epsilon 4/epsilon 4 homozygotes have an increased risk of developing MS. MS patients with the APOE-epsilon 4/epsilon 4 allele may also have an increased rate of disease progression. Multiple Sclerosis (2000) 6 226 - 230
Insights
The APOE-epsilon 4/epsilon 4 genotype is linked to a higher risk of developing Multiple Sclerosis (MS). MS patients with this genotype also show a faster disease progression rate.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- The apolipoprotein E (APOE) gene is implicated in various neurological conditions.
- Understanding the role of APOE genotype in Multiple Sclerosis (MS) susceptibility and progression is crucial.
Purpose of the Study:
- To investigate the association between APOE genotype and Multiple Sclerosis (MS) risk.
- To examine the relationship between APOE genotype and the rate of disease progression in MS patients.
Main Methods:
- A cohort of 240 MS patients was studied over three years.
- APOE genotyping was performed using PCR techniques on saliva and/or blood samples.
- Progression rate was measured using the Expanded Disability Status Scale (EDSS) divided by disease duration.
Main Results:
- APOE-epsilon 4/epsilon 4 homozygotes were found at a significantly higher frequency in the MS group compared to controls (odds ratio: 2.3, P<0.05).
- No significant differences in genotype distribution were observed for other APOE genotypes.
- MS patients with APOE-epsilon 4/epsilon 4 genotype exhibited a significantly faster rate of disease progression (P<0.05).
Conclusions:
- The APOE-epsilon 4/epsilon 4 genotype may confer an increased risk of developing Multiple Sclerosis.
- Individuals with the APOE-epsilon 4/epsilon 4 allele might experience a more rapid disease progression in MS.
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