title: Ctla4 and multiple sclerosis in the Italian population.
abstract: CTLA4 protein is a receptor molecule that plays a critical role as a negative regulator of the immune response. Therefore, genetic variations in CTLA4 may confer susceptibility to autoimmune diseases such as multiple sclerosis (MS). In order to investigate the association of two CTLA4 polymorphisms (+49 A/G and -318 C/T) with multiple sclerosis, sporadic MS patients and healthy controls from Italy were genotyped through direct DNA sequencing. Considering single-loci variations, no differences in the allelic and genotypic frequencies between patients and controls were found. However, considering a putative interaction at the two loci, the T/G combination was more frequently observed in patients than in controls. This result suggests that this allelic combination of the CTLA4 polymorphisms may be involved in the susceptibility to MS in the Italian population.
authors.affiliation: Centre for Bio-Molecular Interdisciplinary Studies and Industrial Applications, University of Milan, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Malferrari
authors.forename: A
authors.initials: A
authors.lastname: Stella
authors.forename: E
authors.initials: E
authors.lastname: Monferini
authors.forename: G
authors.initials: G
authors.lastname: Saltini
authors.forename: M C
authors.initials: MC
authors.lastname: Proverbio
authors.forename: L M
authors.initials: LM
authors.lastname: Grimaldi
authors.forename: L
authors.initials: L
authors.lastname: Rossi-Bernardi
authors.forename: I
authors.initials: I
authors.lastname: Biunno
mesh_terms: D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D020022:Genetic Predisposition to Disease; D006801:Humans; D007141:Immunoglobulin Fc Fragments / Q000235:genetics*; D007558:Italy; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D011993:Recombinant Fusion Proteins / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D007141:Immunoglobulin Fc Fragments; D011993:Recombinant Fusion Proteins