APOE genotypes and disease severity in multiple sclerosis
Autor: | L Lilius, Maria Anvret, Dennis Hellgren, Jan Hillert, Hugh Salter, Zhiping Zhang, Lars Lannfelt, Thomas Masterman |
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Rok vydání: | 2002 |
Předmět: |
Adult
Male Risk Apolipoprotein E 030213 general clinical medicine medicine.medical_specialty Pathology Multiple Sclerosis Adolescent Genotype Apolipoprotein E2 Apolipoprotein E4 Apolipoprotein E3 Disease Polymorphism Single Nucleotide Severity of Illness Index Cohort Studies 03 medical and health sciences Apolipoproteins E 0302 clinical medicine Gene Frequency Internal medicine medicine Humans Genetic Predisposition to Disease Age of Onset Child Codon Allele frequency HLA-DR Serological Subtypes Expanded Disability Status Scale business.industry Multiple sclerosis HLA-DR Antigens Middle Aged medicine.disease Phenotype Neurology Cohort Female lipids (amino acids peptides and proteins) Neurology (clinical) Age of onset business 030217 neurology & neurosurgery Cohort study |
Zdroj: | Multiple Sclerosis Journal. 8:98-103 |
ISSN: | 1477-0970 1352-4585 |
Popis: | Apolipoprotein E (opoE) is involved in the transport of lipids necessary for membrane repair and is encoded by a gene on chromosome 19q13, a region positive for linkage in two multiple sclerosis (MS) genome-wide screens. The APOE epsilon4 allele confers susceptibility to both familial and sporadic Alzheimer's disease (AD). Carriage of epsilon4 is associated with defective dendritic remodeling in AD, and with unfavorable clinical outcome in head trauma and cerebrovascular disease. According to the results of previous studies, APOE epsilon4 does not increase the risk of developing MS, but it may influence disease progression and ultimate disability. From a total cohort of over 900 MS patients, we compared APOE epsilon2-4 genotypes in, roughly, the cohort's least disabled and most disabled septiles. 'Benign MS' (n=124) was defined as an Expanded Disability Status Scale (EDSS) score of 3.0 or less, despite at least 10 years of disease duration, and 'severe MS' (n=140) as the attainment of an EDSS score of 6.0 within 8 years of disease onset. We found no significant differences in genotype or phenotype frequencies between the benign-MS and severe-MS septiles; however, the risk conferred by epsilon4 rose progressively upon comparison of carriage rates in more narrowly defined anti-podal quantiles. |
Databáze: | OpenAIRE |
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