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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-6-12
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17459075-10556814,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17459075-10903737,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0009-9104
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pubmed:author |
pubmed-author:BalbiGG,
pubmed-author:CardamoneLL,
pubmed-author:CarraraPP,
pubmed-author:De AngiolettiMM,
pubmed-author:FerrereJJ,
pubmed-author:GhioMM,
pubmed-author:IndiveriFF,
pubmed-author:MorabitoAA,
pubmed-author:NotaroRR,
pubmed-author:PalmisanoG LGL,
pubmed-author:PedemonteSS,
pubmed-author:PiccioliPP,
pubmed-author:PistilloM PMP,
pubmed-author:RizzoGG,
pubmed-author:SessaregoMM
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pubmed:issnType |
Print
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pubmed:volume |
149
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
40-7
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17459075-Adult,
pubmed-meshheading:17459075-Aged,
pubmed-meshheading:17459075-Antigens, CD,
pubmed-meshheading:17459075-Antigens, Differentiation,
pubmed-meshheading:17459075-Autoimmune Diseases,
pubmed-meshheading:17459075-CTLA-4 Antigen,
pubmed-meshheading:17459075-Female,
pubmed-meshheading:17459075-Gene Frequency,
pubmed-meshheading:17459075-Genetic Predisposition to Disease,
pubmed-meshheading:17459075-Genotype,
pubmed-meshheading:17459075-Haplotypes,
pubmed-meshheading:17459075-Humans,
pubmed-meshheading:17459075-Middle Aged,
pubmed-meshheading:17459075-Polymorphism, Single Nucleotide,
pubmed-meshheading:17459075-Promoter Regions, Genetic,
pubmed-meshheading:17459075-Scleroderma, Systemic
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pubmed:year |
2007
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pubmed:articleTitle |
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.
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pubmed:affiliation |
Department of Oncology, Biology and Genetics, University of Genoa, Genoa, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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