Cytotoxic T Lymphocyte Antigen–4 +49A/G polymorphism does not affect susceptibility to autoimmune hepatitis. (31st March 2013)

• Record Type: Journal Article
• Authors: van, Nicole M. F.; de, Ynto S.; Zwiers, Antonie; van, Bart; van, Karel J.; Beuers, Ulrich; van, Henk R.; Drenth, Joost P. H.; den Ouden, Jannie W.; Verdonk, Robert C.; Koek, Ger H.; Brouwer, Johannes T.; Guichelaar, Maureen M. J.; Vrolijk, Jan M.; Kraal, G.; Mulder, Chris J. J.; van, Carin. M. J.; Bouma, Gerd
• Is Part Of: Liver international. Volume 33:Number 7(2013:Aug.)
• Page Start: 1039
• Page End: 1043
• Publication Date: 2013-03-31
• Subjects: Liver -- Periodicals; Liver -- Diseases -- Periodicals; 616.362
• DOI: 10.1111/liv.12157
• Languages: English
• ISSNs: 1478-3223

Abstract

<abstract abstract-type="main" id="liv12157-abs-0001"> <title>Abstract</title> <sec id="liv12157-sec-0001" sec-type="section"> <title>Background & Aims</title> <p>Single nucleotide polymorphisms (SNP) in the Cytotoxic T lymphocyte antigen‐4 gene (<italic>CTLA‐4</italic>) have been associated with several autoimmune diseases including autoimmune Hepatitis (AIH). In this chronic idiopathic inflammatory liver disease, conflicting results have been reported on the association with a SNP at position +49 in the <italic>CTLA‐4</italic> gene in small patient cohorts. Here, we established the role of this SNP in a sufficiently large cohort of AIH patients.</p> </sec> <sec id="liv12157-sec-0002" sec-type="section"> <title>Methods</title> <p>The study population consisted of 672 AIH patients derived from academic and regional hospitals in the Netherlands and was compared with 500 controls selected from the 'Genome of the Netherlands' project cohort. Genotype frequencies were assessed by PCR for patients and by whole genome sequencing for controls.</p> </sec> <sec id="liv12157-sec-0003" sec-type="section"> <title>Results</title> <p>No significant differences in allele frequencies were found between patients and controls (G Allele: 40% vs 39%, <italic>P </italic>=<italic> </italic>0.7). Similarly, no significant differences in genotype frequencies between patients and controls were found. Finally, there was no relation between disease activity and the G allele or AG and GG genotypes.</p> </sec> <sec id="liv12157-sec-0004" sec-type="section"> <title>Conclusion</title> <p>The Cytotoxic T Lymphocyte Antigen‐4 +49 A/G polymorphism does not represent a major susceptibility risk allele for AIH in Caucasians and is not associated with disease severity at presentation.</p> </sec> </abstract>