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

Fozza, Claudio and Zoledzieska, Magdalena and Pitzalis, Maristella and Simula, Maria Pina and Galleu, Antonio and Contini, Salvatore and Bonfigli, Silvana and Cucca, Francesco and Longinotti, Maurizio Roberto (2012) TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population. Immunogenetics, Vol. 64 (2), p. 153-154. eISSN 1432-1211. Article.

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DOI: 10.1007/s00251-011-0575-z

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.

Item Type:Article
ID Code:7044
Status:Published
Refereed:Yes
Uncontrolled Keywords:TCRBV20S1 polymorphism, type 1 diabetes, Multiple sclerosis, Sardinian population
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:001 Università di Sassari > 03 Istituti > Ematologia
001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Publisher:Springer
eISSN:1432-1211
Deposited On:31 Jan 2012 13:38

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