Association of -318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis

Autor: Rosario Notaro, Maria Pia Pistillo, Giuseppe Balbi, P. Carrara, Simona Pedemonte, Patrizia Piccioli, M. Sessarego, L. Cardamone, M. De Angioletti, Marta Rizzi, Giulio Lelio Palmisano, Massimo Ghio, Francesca Ferrera, F. Indiveri, Anna Morabito
Jazyk: angličtina
Rok vydání: 2007
Předmět:
Adult
Aged
Antigens
CD
genetics
Antigens
Differentiation
genetics
Autoimmune Diseases
genetics/immunology
CTLA-4 Antigen
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Middle Aged
Polymorphism
Single Nucleotide
Promoter Regions
Genetic
Scleroderma
Systemic
genetics/immunology
Adult
Genotype
Translational Studies
Immunology
Single-nucleotide polymorphism
Biology
Polymorphism
Single Nucleotide
Scleroderma
Autoimmune Diseases
Promoter Regions
Genetic
Gene Frequency
Antigen
Antigens
CD
Humans
Immunology and Allergy
Cytotoxic T cell
genetics
CTLA-4 Antigen
Genetic Predisposition to Disease
Antigens
Polymorphism
Promoter Regions
Genetic
Allele frequency
Aged
Scleroderma
Systemic
Haplotype
Autoantibody
Single Nucleotide
Middle Aged
Antigens
Differentiation
Haplotypes
CTLA-4
Chromosomal region
Female
Zdroj: Clinical and experimental immunology
149 (2007): 40–47. doi:10.1111/j.1365-2249.2007.03394.x
info:cnr-pdr/source/autori:Balbi G; Ferrera F; Rizzi M; Piccioli P; Morabito A; Cardamone L; Ghio M; Palmisano GL; Carrara P; Pedemonte S; Sessarego M; De Angioletti M; Notaro R; Indiveri F; Pistillo MP/titolo:Association of-318 C%2FT and +49 A%2FG cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis/doi:10.1111%2Fj.1365-2249.2007.03394.x/rivista:Clinical and experimental immunology (Print)/anno:2007/pagina_da:40/pagina_a:47/intervallo_pagine:40–47/volume:149
DOI: 10.1111/j.1365-2249.2007.03394.x
Popis: Summary Systemic sclerosis (SSc) is a complex and heterogeneous autoimmune disorder with a multi-factorial pathogenesis. Like other autoimmune disorders, the possible role of specific cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms in predisposing to SSc has been hypothesized, but it remains controversial. CTLA-4 promoter (−318C/T) and exon 1 (+49 A/G) polymorphisms have been analysed in 43 Italian females with SSc and in 93 unrelated matched healthy controls by a newly designed tetra-primer amplification refractory mutation system–polymerase chain reaction (T-ARMS–PCR) method. No significant association has been found with either polymorphisms. Nevertheless, SSc patients without concomitant Hashimoto's thyroiditis (HT) were carrying both the −318T allele (P = 0·031) and the +49 G allele (P = 0·076) more frequently than SSc patients with HT [defined by positivity for anti-thyroperoxidase (TPO) and anti-thyroglobulin (TGA) autoantibodies] than controls. Haplotype analysis confirms this association (P = 0·028), and suggests the predominant role of the −318T, whereas that of the +49 G, if any, seems weak. Thus, in Italian SSc patients the CTLA-4 −318C/T promoter polymorphism appears to be associated with the susceptibility to develop SSc without thyroid involvement. Larger studies are needed to confirm these findings and to clarify whether the −318C/T polymorphism is the functional responsible or whether it reflects the presence of another linked genetic element in the same chromosomal region.
Databáze: OpenAIRE
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