title: Indoleamine 2,3 dioxygenase gene polymorphisms correlate with CD8+ Treg impairment in systemic sclerosis.
abstract: Systemic sclerosis (SSc) is characterized by tissue fibrosis, vasculopathy and autoimmunity. Indoleamine 2,3 dioxygenase (IDO) plays a pivotal role in immunological tolerance modulating regulatory T cell (Treg) generation and function. Single nucleotide polymorphisms (SNPs) of IDO gene could impact on Treg function and predispose to autoimmunity. Here, the existence of an association between specific IDO SNPs and SSc was analyzed. Five specific SNPs in IDO gene were searched in 31 SSc patients and 37 healthy controls by gene sequencing or restriction fragment length polymorphism. The function of both CD4+CD25+ and CD8+ Treg from SSc patients was analyzed by proliferation suppression assay. SNP rs7820268 was statistically more frequent in SSc patients than in controls. Notably, SSc patients bearing the T allelic variant of the rs7820268 SNP showed impaired CD8+ Treg function. Our unprecedented data show that a specific IDO gene SNP is associated with an autoimmune disease such as SSc.
authors.affiliation: Centre of Excellence for Biomedical Research, University of Genoa, Genoa 16132, Italy. s_tardito@hotmail.it
authors.forename: Samuele
authors.initials: S
authors.lastname: Tardito
authors.forename: Simone
authors.initials: S
authors.lastname: Negrini
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Conteduca
authors.forename: Francesca
authors.initials: F
authors.lastname: Ferrera
authors.forename: Alessia
authors.initials: A
authors.lastname: Parodi
authors.forename: Florinda
authors.initials: F
authors.lastname: Battaglia
authors.forename: Francesca
authors.initials: F
authors.lastname: Kalli
authors.forename: Daniela
authors.initials: D
authors.lastname: Fenoglio
authors.forename: Maurizio
authors.initials: M
authors.lastname: Cutolo
authors.forename: Gilberto
authors.initials: G
authors.lastname: Filaci
mesh_terms: D000368:Aged; D000483:Alleles; D016827:CD8 Antigens / Q000378:metabolism*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D006801:Humans; D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000276:immunology*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology* / Q000378:metabolism
chemical_list: D016827:CD8 Antigens; D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase