TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population (Articolo in rivista)

Type

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

Label

• TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Alternative label

• Fozza C, Zoledzieska M, Pitzalis M, Simula MP, Galleu A, Contini S, Bonfigli S, Cucca F, Longinotti M. (2012)
  TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population
  in Immunogenetics (Sheff.)
  (literal)

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

• Fozza C, Zoledzieska M, Pitzalis M, Simula MP, Galleu A, Contini S, Bonfigli S, Cucca F, Longinotti M. (literal)

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

• 64 (literal)

Rivista

• Immunogenetics (Rivista)

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

• 2 (literal)

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

• Istituto di Ematologia, Universà di Sassari, Istituto di Genetica Medica, Dipartimento di Scienze Biomediche, Università di Sassari, (literal)

Titolo

• TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population (literal)

Abstract

• Among the different T-cell receptor (TCR) BV20S1 polymorphisms, nucleotide substitution at position 524 results in the introduction of a stop codon, whose potential functional relevance is still unknown. We have recently showed in Sardinian subjects the most elevated allele frequency ever reported worldwide for this \"null allele\" (0.44). As this variant generates a gap in the TCR repertoire, this preliminary finding prompted us to further analyze the role of this polymorphism in the susceptibility to type 1 diabetes (T1D) and multiple sclerosis (MS), which are extremely common in this population. With this aim, we evaluated the influence of the TCRBV20S1 polymorphism by assessing it with the transmission disequilibirum test (TDT) in 652 T1D and 616 MS families, without detecting any significant difference. We conclude that the high frequency of this null allele in Sardinia is not directly related to the high incidence of these autoimmune diseases observed in this founder population. (literal)

Prodotto di

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• BASI GENETICO-MOLECOLARI DI MALATTIE AUTOIMMUNI COMUNI NELLA POPOLAZIONE SARDA. (ME.P05.017.005) (Modulo)

Autore CNR

• MARISTELLA PITZALIS (Persona)
• MAGDALENA ZOLEDZIEWSKA (Unità di personale interno)
• FRANCESCO CUCCA (Unità di personale interno)

Incoming links:

Autore CNR di

• FRANCESCO CUCCA (Unità di personale interno)
• MAGDALENA ZOLEDZIEWSKA (Unità di personale interno)
• MARISTELLA PITZALIS (Persona)

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• BASI GENETICO-MOLECOLARI DI MALATTIE AUTOIMMUNI COMUNI NELLA POPOLAZIONE SARDA. (ME.P05.017.005) (Modulo)

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

• Immunogenetics (Rivista)