Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis
AuthorHusain, S; Yildirim-Toruner, C; Rubio, JP; Field, J; Schwalb, M; Cook, S; Devoto, M; Vitale, E
Source TitlePLOS ONE
PublisherPUBLIC LIBRARY SCIENCE
University of Melbourne Author/sTUBRIDY, NIALL; MARRIOTT, MARK; CHAPMAN, CARON; Kilpatrick, Trevor; FOOTE, SIMON; Butzkueven, Helmut; Bahlo, Melanie; Speed, Terence; STANKOVICH, JAMES; Field, Judith; ...
AffiliationMedicine, Dentistry & Health Sciences
Florey Department of Neuroscience and Mental Health
Melbourne Medical School
Education Unit, MDHS
School of Biomedical Sciences
Anatomy and Neuroscience
Centre for Neuroscience
Mathematics and Statistics
Document TypeJournal Article
CitationsHusain, S., Yildirim-Toruner, C., Rubio, J. P., Field, J., Schwalb, M., Cook, S., Devoto, M. & Vitale, E. (2008). Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis. PLOS ONE, 3 (7), https://doi.org/10.1371/journal.pone.0002653.
Access StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2440423
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.
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