CTLA-4 gene polymorphism is associated with predisposition to coeliac disease

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Abstract
Background—Susceptibility to coeliac disease is strongly associated with particular HLA class II alleles. However, non-HLA genetic factors are likely to be required for the development of the disease. Among candidate genes is the CTLA-4 (cytotoxic T lymphocyte associated) gene located on chromosome 2q33 in humans, which encodes a cell surface molecule providing a negative signal for T cell activation. Aims—To investigate CTLA-4 exon 1 polymorphism (position 49 A/G) in patients with coeliac disease. Patients—101 patients with coeliac disease and 130 healthy controls. Methods—Allele specific hybridisation and restriction enzyme digestion of polymerase chain reaction amplified genomic DNA. Results—The A allele of the CTLA-4 position 49 polymorphism was found on 82.2% of chromosomes in patients with coeliac disease compared with 65.8% in controls (pConclusion—The CTLA-4 gene polymorphism is a non-HLA determinant that predisposes to coeliac disease. Whether it directly contributes to disease susceptibility or represents a marker for a locus in linkage disequilibrium with CTLA-4 needs further investigation.