Pro-inflammatory genetic polymorphims and risk of developing Celiac disease : Título em

Abstract

Resumo da tese: Introduction: Environmental and genetic factors play an important role in Celiac disease (CD). The relationship between HLA-genes and this disease is now well established, but it is also clear that other factors have a role in susceptibility. The aim of this study was to determine the association between polymorphisms in the TNFA, lFNGR1, lL1B, MlF and lL1RN genes and risk of development of CD in a Portuguese population. Materials and Methods: In a case-control study including 60 CD patients and 930 controls (313 adults and 617 children), the TNFA (-308G/A and -857C/T), lFNGR1 (-56C/T), lL1B (-511C/T), lL8 (-251C/T), lL1RN (intron 2 VNTR), and MIF (-797 VNTR) gene polymorphisms were genotyped. REsults: A significant association between CD and both the heterozygous GA genotype and the homozygous AA genotype of the TNFA-308 polymorphism was observed, with an odds-ratio (OR) of 3.1 (95% confidence interval [Cl] =1.79-5.37) and 10.6 (95% CI= 3.47-32.1), respectively. No relevant associations were found with the TNFA-857, lFNGR1-56, lL8-251, lL1B-511, lL1RN VNTR and the MlF-797 VNTR polymorphisms. Conclusions: These findings suggest that TNFA-308 polymorphism may be associated and contribute to the risk of developing CD.