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 (Articolo in rivista)

Type
Label
  • 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 (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1365-2249.2007.03394.x (literal)
Alternative label
  • 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 (2007)
    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
    in Clinical and experimental immunology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#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 (literal)
Pagina inizio
  • 40 (literal)
Pagina fine
  • 47 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 149 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Pubblicazione (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Oncology, Biology and Genetics, Department of Internal Medicine (DIMI), Department of Biology and CEBR, University of Genoa, Genoa, Italy; Laboratory of Genetics and Gene Transfer, Core Research Laboratory, Istituto Toscano Tumori (ITT-CRL), Florence, Italy; Laboratory of Human Genetics, Medical Oncology C and Laboratory of Translational Research A, National Cancer Research Institute, Genoa, Italy; Transfusion Service, Galliera Hospital, Genoa, Italy; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' (IGB-CNR), Naples, Italy (literal)
Titolo
  • 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 (literal)
Abstract
  • 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. (literal)
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