Artur Bossowski
University of Bialystok, Poland
Title: Analysis of chosen polymorphisms rs2476601 A/G - PTPN22, rs20541 A/G – IL13 rs29941 A/G – KCTD15 in pathogenesis of type 1 diabetes in children
Biography
Biography: Artur Bossowski
Abstract
Background: Type 1 Diabetes is multifactorial disease with a genetic susceptibility and environmental factors. The Tyrosine phosphatase non-receptor type 22 (PTPN22) gene polymorphism is known to be associated with T1DM, but it has not been established in a Caucasian children population yet. The interleukin 13 (IL13) and the potassium chanel tetramerization domain
containing 15 (KCTD15) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.
Objective & Hypothesis: To estimate the association of polymorphisms of PTPN22, IL13 genes and KCTD15 polymorphisms with the predisposition to T1DM in children.
Method: The study was performed in 94 patients with T1DM. The three single nucleotide polymorphisms (SNPs): rs2476601 - PTPN22, rs20541- IL13 , rs29941 -KCTD15 were genotyped by TaqMan SNP genotyping assay using the real-time PCR.
Results: Rs2476601 A alleles were more frequent in patients with T1DM in comparison to healthy subjects (p=0.004 with OR=2). Rs20541 A alleles were more frequent in T1DM patients in comparison to healthy subjects (p=0.002 with OR=2). Rs29941 A alleles were more frequent in T1DM patients in comparison to healthy subjects (p=0.001, OR=7).
Conclusion: Rs2476601 A/G - PTPN22, rs20541 A/G - IL13 , rs29941 A/G - KCTD15 polymorphisms could contribute to development of T1DM in children. The main risk factor for rs2476601, rs20541 and rs29941 is allele A.