CTLA4 Gene Exon1 +49 A/G Polymorphism Lack of A

Authors: Adina Kay Knight Davide Serrano Yaron Tomer Charlotte CunninghamRundles

Publish Date: 2006/12/28

Volume: 27, Issue: 1, Pages: 95-100

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Abstract

The presence of the G allele of exon1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 CTLA4 gene has been described as a risk factor associated with the development of autoimmune diseases Since Common Variable Immune Deficiency CVID is associated with autoimmune manifestations in approximately 25 of patients we sought to examine the association of the CTLA4 single nucleotide polymorphism with autoimmunity and other inflammatory complications Sixteen of 47 CVID 34 patients had a history of autoimmunity and 15 32 had known granulomatous disease with or without lymphoid hyperplasia CTLA4 genotype frequencies were AA 40 19 AG 45 21 and GG 15 7 Allele frequencies were A 63 and G 37 similar to control populations There were no significant associations between CTLA4 exon1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient populationSpecial thanks to Drs Li Zhang Ulrich Salzar Bodo Grimbacher and Timothy Behrens for providing TACI sequencing data This work was supported by grants from the National Institutes of Health AI 101093 AI467320 AI48693 and NIAID Contract 0322 Adina Kay Knight was supported in part by the AAAAI Clinical Fellowship Award

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