Both authors contributed equally to this manuscript.
Cytotoxic T Lymphocyte Antigen–4 +49A/G polymorphism does not affect susceptibility to autoimmune hepatitis
Article first published online: 31 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 33, Issue 7, pages 1039–1043, August 2013
How to Cite
Liver Int. 2013: 33: 1039–1043
- Issue published online: 7 JUL 2013
- Article first published online: 31 MAR 2013
- Accepted manuscript online: 7 MAR 2013 10:51PM EST
- Manuscript Accepted: 4 MAR 2013
- Manuscript Received: 15 NOV 2012
- the Netherlands Organization for Scientific Research . Grant Number: 184021007
- the Innovation-Oriented Research Program on Genomics. Grant Numbers: IGE01014, IGE05007
- the Center for Medical SystCenterems Biology
- National Institute for Healthy Ageing. Grant Numbers: IGE01014, IGE05007
- autoimmune hepatitis;
- cytotoxic T lymphocyte antigen-4;
- single nucleotide polymorphism;
Background & Aims
Single nucleotide polymorphisms (SNP) in the Cytotoxic T lymphocyte antigen-4 gene (CTLA-4) 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 CTLA-4 gene in small patient cohorts. Here, we established the role of this SNP in a sufficiently large cohort of AIH patients.
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.
No significant differences in allele frequencies were found between patients and controls (G Allele: 40% vs 39%, P = 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.
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.