| Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. | |
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MedLine Citation:
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PMID: 15138458 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Several lines of evidence implicate the Cytotoxic T Lymphocyte Antigen 4 (CTLA4) gene in susceptibility to autoimmune disease. We have examined the association of systemic lupus erythematosus (SLE) with polymorhisms within the CTLA4 gene that were previously proposed to regulate CTLA-4 function: a single nucleotide polymorphism (SNP) in position +49 of exon 1 and a dinucleotide repeat in the 3' untranslated region (3'UTR). The 3'UTR repeat showed a significant association with SLE, with one allele conferring susceptibility and another conferring protection to the disease. The associated alleles do not support previous suggestions of an allele size-dependent effect of the 3' UTR polymorphism in autoimmunity development and instead suggest that it is in linkage disequilibrium with a true causative locus. No association of the exon 1 SNP with SLE was found in our population. Given the conflicting results obtained in different studies on the association of SLE with this polymorphism, we performed a meta-analysis including seven previously published studies and the present one. Significantly increased and decreased risks for SLE were found for carriers of the G allele and the A allele, respectively. The functional characterization of disease-associated CTLA4 gene variants is now required to elucidate their role in the pathogenesis of SLE and other autoimmune diseases. |
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Authors:
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Marta Barreto; Eugénia Santos; Ricardo Ferreira; Constantin Fesel; Maria Francisca Fontes; Clara Pereira; Berta Martins; Rita Andreia; João Faro Viana; Francisco Crespo; Carlos Vasconcelos; Carlos Ferreira; Astrid Moura Vicente |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 12 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2004 Aug |
Date Detail:
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Created Date: 2004-07-22 Completed Date: 2004-10-28 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 620-6 Citation Subset: IM |
Affiliation:
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Instituto Gulbenkian de Ciência, Oeiras, Portugal. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Antigens, CD Antigens, Differentiation / genetics* DNA Primers Dinucleotide Repeats / genetics Female Genetic Predisposition to Disease / genetics* Genotype Humans Linkage Disequilibrium Lupus Erythematosus, Systemic / genetics* Male Polymorphism, Single Nucleotide / genetics Portugal Restriction Mapping |
| Chemical | |
Reg. No./Substance:
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0/Antigens, CD; 0/Antigens, Differentiation; 0/DNA Primers; 0/cytotoxic T-lymphocyte antigen 4 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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