title: TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population.
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.
authors.affiliation: Istituto di Ematologia, Universà di Sassari, Viale San Pietro 12, 07100 Sassari, Italy. cfozza@uniss.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Fozza
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zoledzieska
authors.forename: Maristella
authors.initials: M
authors.lastname: Pitzalis
authors.forename: Maria Pina
authors.initials: MP
authors.lastname: Simula
authors.forename: Antonio
authors.initials: A
authors.lastname: Galleu
authors.forename: Salvatore
authors.initials: S
authors.lastname: Contini
authors.forename: Silvana
authors.initials: S
authors.lastname: Bonfigli
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca
authors.forename: Maurizio
authors.initials: M
authors.lastname: Longinotti
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D018703:Founder Effect; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*
chemical_list: D011948:Receptors, Antigen, T-Cell