Variants of ST8SIA1 are associated with risk of developing multiple sclerosis (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Variants of ST8SIA1 are associated with risk of developing multiple sclerosis (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1371/journal.pone.0002653 (literal)

Alternative label

• Husain S; Yildirim-Toruner C; Rubio C J; Field J; The Southern MS Genetics Consortium, Cook S; Devoto M; Vitale E (2008)
  Variants of ST8SIA1 are associated with risk of developing multiple sclerosis
  in PloS one; Public Library of Science, San Francisco (Stati Uniti d'America)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Husain S; Yildirim-Toruner C; Rubio C J; Field J; The Southern MS Genetics Consortium, Cook S; Devoto M; Vitale E (literal)

Pagina inizio

• e2653 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0002653 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 3 (literal)

Rivista

• PloS one (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 7 (literal)

Note

• Scopu (literal)
• ISI Web of Science (WOS) (literal)
• Google Scholar (literal)
• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Institute of Genomic Medicine and Department of Pediatrics, UMDNJ-New Jersey Medical School, Newark, NJ, USA; The Howard Florey Institute, University of Melbourne, Victoria, Australia; Department of Neuroscience UMDNJ-New Jersey Medical School, Newark NJ, USA; The Children's Hospital of Philadelphia, and CCEB, University of Pennsylvania School of Medicine, Philadelphia, PA, USA;Department of Experimental Medicine, University La Sapienza, Rome, Italy; Istituto di Cibernetica \"E. Caianiello\", CNR (literal)

Titolo

• Variants of ST8SIA1 are associated with risk of developing multiple sclerosis (literal)

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 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. (literal)

Editore

• Public Library of Science (Editore)

Prodotto di

• Istituto di cibernetica \"Edoardo Caianiello\" (ISASI) (Istituto)
• Meccanismi di trasmissione e trasduzione di segnali cellulari (MD.P01.006.001) (Modulo)

Autore CNR

• EMILIA VITALE (Persona)

Incoming links:

Prodotto

• Istituto di cibernetica \"Edoardo Caianiello\" (ISASI) (Istituto)
• Meccanismi di trasmissione e trasduzione di segnali cellulari (MD.P01.006.001) (Modulo)

Autore CNR di

• EMILIA VITALE (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• PloS one (Rivista)

Editore di

• Public Library of Science (Editore)