Cytotoxic T Lymphocyte Antigen-4 +49A/G polymorphism does not affect susceptibility to autoimmune hepatitis.

BACKGROUND & AIMS: Single nucleotide polymorphisms (SNP) in the lymphocyte antigen-4 gene (CTLA-4) have been associated with several diseases including autoimmune Hepatitis (AIH). In this chronic inflammatory liver disease, conflicting results have been reported on association with a SNP at position +49 in the CTLA-4 gene in small cohorts. Here, we established the role of this SNP in a sufficiently of AIH patients. METHODS: The study population consisted of 672 AIH derived from academic and regional hospitals in the Netherlands and was with 500 controls selected from the 'Genome of the Netherlands' project Genotype frequencies were assessed by PCR for patients and by whole sequencing for controls. RESULTS: No significant differences in allele frequencies were found between patients and controls (G Allele: 40% vs 0.7). Similarly, no significant differences in genotype frequencies patients and controls were found. Finally, there was no relation between activity and the G allele or AG and GG genotypes. CONCLUSION: The Lymphocyte Antigen-4 +49 A/G polymorphism does not represent a major susceptibility risk allele for AIH in Caucasians and is not associated disease severity at presentation.