Journal article

Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis

Seema Husain, Cagri Yildirim-Toruner, Justin P Rubio, Judith Field, Marvin Schwalb, Stuart Cook, Marcella Devoto, Emilia Vitale



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 assoc..

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Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

This work was supported by the MS National Multiple Sclerosis Society, the Wadsworth Foundation for Multiple Sclerosis Research Grant and the Foundation of UMDNJ(E.V.) and by Segal Family, L'Hommedieu and Kushner Family Grants (S.C.). JPR is an R. D. Wright Fellow of The National Health and Medical Research Council of Australia.