title: Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.
abstract: In the quest for susceptibility factors of inflammatory neuropathies, many genes implicated in the pathogenesis of autoimmune diseases have been investigated with negative or conflicting results. We studied, with a gene candidate approach, the CD1 system specialized in capturing and presenting glycolipids to antigen-specific T cells, and the SH2D2A gene encoding for a T-cell-specific adapter protein implicated in control of early T-cell activation. In Guillain-Barré syndrome, an initially positive association study with polymorphism of CD1A and CD1E genes was not confirmed. In chronic inflammatory demyelinating polyneuropathy, we did not find an association with CD1 genes, but we found an association with a homozygous genotype for a low repeat number of tandem GA in the SH2D2A gene. This genotype could result in defective control and elimination of autoreactive T cells. All the studies were performed on relatively small size populations. Confirmation in larger sized studies is required both for CD1 and SH2D2A genes. Considering the relative rarity of patients with inflammatory neuropathies, this can only be accomplished by international collaboration.
authors.affiliation: Department of Neuroscience and Imaging, University G. d'Annunzio, Chieti-Pescara, Chieti, Italy. uncini@unich.it
authors.forename: Antonino
authors.initials: A
authors.lastname: Uncini
authors.forename: Francesca
authors.initials: F
authors.lastname: Notturno
authors.forename: Marta
authors.initials: M
authors.lastname: Pace
authors.forename: Christina M
authors.initials: CM
authors.lastname: Caporale
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D018949:Antigens, CD1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D020275:Guillain-Barre Syndrome / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018949:Antigens, CD1; C405691:SH2D2A protein, human