Association of Apolipoprotein E Polymorphism with Susceptibility to Multiple Sclerosis

Document Type: Research Paper

Authors

1 Department of Human Genetics and Anthropology, School of Public Health and Institute of Public Health Research, Tehran University of Medical Sciences, Tehran.

2 National Research Center for Genetic Engineering and Biotechnology, P.O. Box: 14155-6343, Tehran, Iran.

3 Department of Human Genetics and Anthropology, School of Public Health and Institute of Public Health Research, Tehran University of Medical Sciences, Tehran, Iran.

4 National Research Center for Genetic Engineering and Biotechnology, P.O. Box: 14155-6343, Tehran.

5 Department of Neurology, Shahed Medical University, Tehran, Iran.

6 Department of Environmental Health Engineering, School of Public Health and Institute of Public Health Research, Tehran University of Medical Sciences, Tehran.

7 Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, I.R. Iran.

Abstract

Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system, with a complex
etiology that includes a strong genetic component. The contribution of the major histocompatibility complex
(MHC) has been established in numerous genetic linkage and association studies. In addition to the
MHC, the chromosome 19q13 region surrounding the apolipoprotein E (APOE) gene has shown consistent
evidence of involvement in MS. In a cross-sectional study, to show differences in APOE allele frequencies
in multiple sclerosis compared with controls, we genotyped polymorphisms in four alleles namely; ε2, ε3 and
e4 alleles. This study was carried out on 81 patients with clinically definite MS and 93 asymptomatic,
randomly selected elderly volunteers. A significant difference was observed in the distribution of e4 allele
between patients with MS and controls (9.3% vs. 0.5%; χ2=15.2; df=2; p<0.001). This provides strong support for the association of MS with APOE ε4 allele.

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