ESPE Abstracts (2018) 89 P-P1-052

Genetic Susceptibility to Type 1 Diabetes in Children: Analysis of Polymorphisms rs1990760 - IFIH1, rs20541 - IL13, rs231775 - CTLA 4

Aleksandra Goralczyka, Artur Bossowskia, Joanna Goscikb, Natalia Wawrusiewicz-Kurylonekb, Anna Bossowskab & Adam Kretowskib


aDepartment of Pediatric Endocrinology, Diabetology with Cardiology Division, Medical University in Białystok, Bialystok, Poland; bDepartment of Endocrinology and Diabetes with Internal Medicine, Bialystok, Poland


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.

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