Borg, Joseph: The Genetics of Coeliac Disease in Malta

Two polymorphisms found within the CTLA4 gene were studied amongst a sample of coeliac patients and cord blood DNA samples that acted as the control group. Polymorphisms within the CTLA4 gene have been associated with other autoimmune conditions and the gene plays a very important role in immuno-regulatory function. The coeliac individuals and cord blood samples were genotyped for the -318 C/T and +49 A/G single nucleotide polymorphisms. No association of the single polymorphisms or the combined haplotypes with the coeliac condition was apparent amongst the coeliac patients under study. The -318 C allele and the +49 A allele were in linkage disequilibrium amongst the cord blood samples.