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Variants of ST8SIA1 are associated with risk of developing multiple sclerosis


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Husain, S, Yildirim-Toruner, C, Rubio, JP, Field, J, Kilpatrick, TJ, Foote, SJ, Butzkueven, H, Taylor, BV, Tubridy, N, Marriott, M, Chapman, C, Bahlo, M, Speed, T and Stankovich, J 2008 , 'Variants of ST8SIA1 are associated with risk of developing multiple sclerosis' , PLOS One, vol. 3, no. 7 , e2653 , doi: 10.1371/journal.pone.0002653.

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Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system of unknown etiology with
both genetic and environmental factors playing a role in susceptibility. To date, the HLA DR15/DQ6 haplotype within the
major histocompatibility complex on chromosome 6p, is the strongest genetic risk factor associated with MS susceptibility.
Additional alleles of IL7 and IL2 have been identified as risk factors for MS with small effect. Here we present two
independent studies supporting an allelic association of MS with polymorphisms in the ST8SIA1 gene, located on
chromosome 12p12 and encoding ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1. The initial association was
made in a single three-generation family where a single-nucleotide polymorphism (SNP) rs4762896, was segregating
together with HLA DR15/DQ6 in MS patients. A study of 274 family trios ( affected child and both unaffected parents) from
Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal
alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01
respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS.

Item Type: Article
Authors/Creators:Husain, S and Yildirim-Toruner, C and Rubio, JP and Field, J and Kilpatrick, TJ and Foote, SJ and Butzkueven, H and Taylor, BV and Tubridy, N and Marriott, M and Chapman, C and Bahlo, M and Speed, T and Stankovich, J
Journal or Publication Title: PLOS One
ISSN: 1932-6203
DOI / ID Number: 10.1371/journal.pone.0002653
Additional Information:

Copyright: © 2008 Husain et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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