原创力文档variants of st8sia1 are associated with risk of developing multiple sclerosis变异的st8sia1与患多发性硬化的风险相关联.pdfVIP
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variants of st8sia1 are associated with risk of developing multiple sclerosis变异的st8sia1与患多发性硬化的风险相关联
Variants of ST8SIA1 Are Associated with Risk of
Developing Multiple Sclerosis
1 1 2 2
Seema Husain , Cagri Yildirim-Toruner , Justin P. Rubio , Judith Field , The Southern MS Genetics
2 1 3 4,5 1,6
Consortium , Marvin Schwalb , Stuart Cook , Marcella Devoto , Emilia Vitale *
1 Institute of Genomic Medicine and Department of Pediatrics, UMDNJ-New Jersey Medical School, Newark, New Jersey, United States of America, 2 The Howard Florey
Institute, University of Melbourne, Parkville, Victoria, Australia, 3 Department of Neuroscience UMDNJ-New Jersey Medical School, Newark, New Jersey, United States of
America, 4 The Children’s Hospital of Philadelphia, and CCEB, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America,
5 Department of Experimental Medicine, University La Sapienza, Rome, Italy, 6 CNR Institute of Cybernetics, Naples, Italy
Abstract
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
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