Document Detail

Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.
MedLine Citation:
PMID:  15138458     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  12     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-07-22     Completed Date:  2004-10-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  620-6     Citation Subset:  IM    
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
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MeSH Terms
Antigens, CD
Antigens, Differentiation / genetics*
DNA Primers
Dinucleotide Repeats / genetics
Genetic Predisposition to Disease / genetics*
Linkage Disequilibrium
Lupus Erythematosus, Systemic / genetics*
Polymorphism, Single Nucleotide / genetics
Restriction Mapping
Reg. No./Substance:
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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