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Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis


Husain, S and Yildirim-Toruner, C and Rubio, JP and Field, J and Kilpatrick, TJ and Foote, SJ and Butzkueven, H and Taylor, BVM and Tubridy, N and Marriott, M and Chapman, C and Bahlo, M and Speed, T and Stankovich, J and Shwalb, M and Cook, S and Devoto, M and Vitale, E, Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis, PLoS One, 3, (7) pp. e2653. ISSN 1932-6203 (2008) [Refereed Article]

DOI: doi:10.1371/journal.pone.0002653


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. © 2008 Husain et al.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Foote, SJ (Professor Simon Foote)
UTAS Author:Taylor, BVM (Professor Bruce Taylor)
UTAS Author:Stankovich, J (Dr Jim Stankovich)
ID Code:55190
Year Published:2008
Web of Science® Times Cited:9
Deposited By:Menzies Institute for Medical Research
Deposited On:2009-03-06
Last Modified:2009-05-28

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