Genetic characteristics of innate and adaptive immunity in coeliac disease

• Published in: Zeitschrift für Gastroenterologie
• Main Authors: Dezsőfi, A, Szebeni, B, Krikovszky, D, Veres, G, Körner, A, Kapitány, A, Korponay-Szabó, I, Arató, A
• Format: Conference Proceeding
• Language: English
• Published: 21.06.2006
• ISSN: 0044-2771; 1439-7803
• DOI: 10.1055/s-2006-943387

Background/Aim: Beside the central role of the adaptive immune system disturbances of innate immunity is also responsible for the pathogenesis of celiac disease (CD), in which the activation of CD14 and TLR4 receptors may be key factors. As CD and type 1 diabetes mellitus (T1DM) can coexist frequently our aim was to study the frequency of CD14 (C-260T) and TLR4 (A+896G) single nucleotide polymorphisms (SNPs) in children with CD, T1DM and with the coexistence of CD and T1DM. The distribution of HLA-DQ alleles in the same groups was also studied. Methods : In 100 children with CD, in 87 with T1DM and in 62 with the coexistence of CD and T1DM TLR4 and CD14 SNPs were tested with PCR followed by restriction fragment length polymorphism (RFLP) analysis, while the determination of HLA-DQ alleles was done with SP-PCR method. The frequencies were compared to those of 146 healthy controls. Results: We found significantly higher CD14 (C-260T) allele prevalence in the CD group vs. T1DM, and lower CD 14 in the T1DM group vs. controls. No difference was found in TLR4 SNPs between the investigated patients. In T1DM the incidence of HLA-DQ8, while in CD the occurrence of HLA-DQ2 is the typical. In case of coexistence of the two disorders HLA-DQ2 is significantly higher than in T1DM. When CD+T1DM present together, the HLA-DQ8 is significantly lower vs. T1DM pts. The co-presentation of HLA-DQ2 and DQ8 alleles is higher in CD+T1DM and in T1DM versus CD group, but there is no significant difference between the two diabetic groups. Summary/Conclusion : Our results suggest that the CD14 C-260T allele increases the disposition to the development of CD but it may defend against T1DM. The determination of HLA-DQ alleles in children with T1DM may help in the estimation of probability for the development of CD.