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No major association of A poE genotype with disease characteristics and MRI findings in multiple sclerosis

Department of Neurology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands, jnp.zwemmer{at}vumc.nl

T van Veen

Department of Neurology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands, Department of Clinical Epidemiology and Biostatistics, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

L van Winsen

Department of Neurology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

G J van Kamp

Department of Clinical Chemistry,MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

F Barkhof

Department of Radiology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

C H Polman

Department of Neurology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

B MJ Uitdehaag

Department of Neurology, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands, Department of Clinical Epidemiology and Biostatistics, MS-MRI Center, VU Medical Center, Amsterdam, The Netherlands

Background: Whereas a number of studies suggest that the A poE polymorphism is not associated with disease susceptibility in multiple sclerosis (MS), results with regard to disease severity, however, are conflicting. Some studies suggest an unfavourable role of the 4 allele. This study was performed to assess the association of the A poE polymorphism with both disease susceptibility and disease course in a large group of MS patients using clinical and MRI measures. In addition the data were combined with available data from the literature. Methods: In a group of 408 patients with clinically definite MS, genotype distribution was compared with that of 144 healthy controls. C ombined analysis of published data on the association of A poE polymorphism with MS was performed. Demographic and clinical findings were recorded and related to the A poE genotype. In a subgroup, longitudinal MRI findings were available and related to the A poE genotype. Results: No significant differences were found in the distribution of genotypes between MS patients and controls. C ombined analysis of published data showed a slightly increased susceptibility for MS in 2-carriers. Disease character istics (including age at onset and onset type), disease severity (progression index, time to reach EDSS 6) and MRI findings (lesion volumes and atrophy measures) were not associated with carriership o 2 or 4. Conclusions: In this cohort no association of the A poE genotype with disease susceptibility nor clinical and MRI measures could be identified. However, combined analysis of published data could not definitely exclude the possibility of a minor role for 2-carriership in MS.

Key Words: A poE • disease susceptibility • genetics • MRI • multiple sclerosis • polymorphism • severity

Multiple Sclerosis, Vol. 10, No. 3, 272-277 (2004)
DOI: 10.1191/1352458504ms1010oa


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