1. Ctla4 and multiple sclerosis in the Italian population
- Author
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Giulia Malferrari, Eugenia Monferini, A. Stella, Ida Biunno, L. Rossi-Bernardi, Maria Carla Proverbio, Giuliana Saltini, and Luigi M.E. Grimaldi
- Subjects
Multiple Sclerosis ,Recombinant Fusion Proteins ,Clinical Biochemistry ,Population ,chemical and pharmacologic phenomena ,Biology ,DNA sequencing ,Pathology and Forensic Medicine ,Antigen ,Antigens, CD ,Genotype ,Genetic variation ,medicine ,Humans ,CTLA-4 Antigen ,Genetic Predisposition to Disease ,Allele ,education ,Molecular Biology ,Autoimmune disease ,education.field_of_study ,Polymorphism, Genetic ,Multiple sclerosis ,medicine.disease ,Antigens, Differentiation ,Immunoglobulin Fc Fragments ,Italy ,Immunology - 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.
- Published
- 2005
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