Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.
Objective and hypotheses: To estimate the association of polymorphisms of IFIH1, IL13, CTLA 4 genes with the predisposition to T1DM in children.
Method: The study was performed in 194 patients with T1DM and 190 healthy volunteers. The three single nucleotide polymorphisms (SNPs): rs1990760 - IFIH1, rs20541- IL13, rs231775- CTLA 4 were genotyped by TaqMan SNP genotyping assay using the real-time PCR.
Results: Rs1990760 T alleles were more frequent in patients with T1DM in comparison to healthy subjects (P=0.001 with OR=5). Rs20541 A alleles were more frequent in T1DM patients in comparison to healthy subjects (P=0.04 with OR=2). Rs231775 G alleles were more frequent in T1DM patients in comparison to healthy subjects (P=0.01, OR=2).
Conclusion: Rs1990760 T/C - IFIH1, rs20541 A/G - IL13, rs231775 G/A CTLA 4 polymorphisms could contribute to development of T1DM in children. The main risk factor for rs1990760 is T allele, for rs20541 A allele and for rs231775 G allele.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology