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Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy
journal contribution
posted on 2023-05-17, 01:07 authored by van der Walt, A, Jim Stankovich, Bahlo, M, Bruce TaylorBruce Taylor, Ingrid van der MeiIngrid van der Mei, Simon James FooteSimon James Foote, Kilpatrick, TJ, Rubio, JP, Butzkueven, HBackground: The influence of APOE allelic heterogeneity on multiple sclerosis (MS) disease severity has been reported in multiple datasets with conflicting results. Several studies have reported an unfavorable association of APOE!4 with more severe clinical disease course while, in contrast, APOE !2 has been associated with a more benign disease course. In this study, we examine the influence of heterogeneity of the APOE gene on disease severity in a large, Australian, populationbased MS cohort. Methods: Associations between APOE allele status, 2 promoter region single nucleotide polymorphisms(!219 G/T and "113 C/G), and 4 measures of disease severity were tested in 1,006 patients with relapsing-remitting MS and secondary progressive MS: 1) Multiple Sclerosis Severity Score; 2) Progression Index (Expanded Disability Status Scale/disease duration); 3) age at first symptom; and 4) interval between the first and second attack. The Symbol Digit Modalities Test was used as a single cognitive marker in 889 patients. Brain atrophy was measured in 792 patients using the intercaudate ratio. APOE!4 and !3 carriers were stratified by!219 G/T or"113 C/G to investigate haplotypic heterogeneity in the APOE gene region. Results: In this MS study, neither APOE allele status nor promoter region heterogeneity at positions !219 G/T or "113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. Conclusions: Allelic and haplotypic heterogeneity of the APOE gene region does not influence multiple sclerosis disease course in this well-defined Australian multiple sclerosis cohort.
History
Publication title
NeurologyVolume
73Issue
13Pagination
1018-1025ISSN
0028-3878Department/School
Menzies Institute for Medical ResearchPublisher
Lippincott Williams & WilkinsPlace of publication
530 Walnut St, Philadelphia, USA, Pa, 19106-3621Repository Status
- Restricted