Genetic Polymorphisms And Coeliac Disease In A Portuguese Population

Coeliac disease (CD) is dependent on genetic susceptibility. Various candidate genes have been suggested, as is shown by genome wide linkage and case control studies. Cytoquine coding genes may be relevant due to the inflammatory pattern of the disease. There is no homogeneity in different populations concerning the TNFA polymorphisms and no studies have evaluated the importance of IL-1 related genes in genetic susceptibility. In this study, TNF 308*A, IL-1B-511*T and ILRN VNTR alleles were screened in 39 patients with celiac disease, from the Northern Portugal. PCR-SSCP analysis was made and sequencing was performed. The allele TNF 308*A was found in 51.3% of patients (OR=3.3, IC1.7-6.6), having a strong association with the disease. The allele IL-1B-511*T was found in 64.8% (OR=1.5, IC0.7-3.0) and in 16.7 % for the genotype ILRN VNTR 2*/2* (OR=1.9, CI 0.7-5.0). Our results suggest that genes other than FILA may modulate genetic susceptibility to CD.