The rs1893217 (T/C) polymorphism in PTPN2 gene is not associated with type 1 diabetes mellitus in subjects from Southern Brazil

Abstract

Objective: To evaluate the association of the PTPN2 rs1893217 polymorphism with T1DM and/or its clinical and laboratory characteristics in a Caucasian population from Southern Brazil. Subjects and methods: Four hundred and eighty six patients with T1DM and 484 non-diabetic subjects were included in the study. Genotyping of the PTPN2 rs1893217 was performed by real-time PCR. Results: Genotype frequencies did not differ between T1DM patients and non-diabetic subjects (P = 0.265). The C allele was observed in 14.5% of the T1DM sample and 12.2% of the non-diabetic group (P = 0.152). Moreover, the frequencies of this variant did not differ statistically between T1DM patients and non-diabetic subjects when assuming recessive, dominant, or additive inheritance models. The clinical and laboratory characteristics of T1DM patients did not differ significantly among the three genotypes of the rs1893217 polymorphism, either. Conclusion: The PTPN2 rs1893217 polymorphism is not significantly associated with T1DM in Caucasian subjects from Southern Brazil.

PTPN2 gene polymorphisms are associated with type 1 diabetes mellitus in Brazilian subjects?

“…(5) reported that the PTPN2 rs1893217 polymorphism seems to predict islet autoimmunity (hazard ratio = 1.42, 95% CI 1.02-1.99) but not T1DM development, after controlling for family history of T1DM and HLA high--risk genotypes. The absence of an association with T1DM is in agreement with our reported data (1). Unfortunately, we did not analyze HLA-high risk genotypes in our population to know if this genetic background would modify the association between the rs1893217 polymorphism and T1DM in different subgroups.…”

“…W e appreciated the correspondence by Liu and cols. that was sent to this journal regarding our manuscript "The rs1893217 (T/C) polymorphism in PTPN2 gene is not associated with type 1 diabetes mellitus in subjects from Southern Brazil" (1).…”

Juxtaposition of Coeliac Disease and Type 1 Diabetes; the Role of Shared Non-Human Leukocyte Antigen Loci

“…31 In 2 additional reports, no significant association was reported between rs1893217 polymorphism of PTPN2 gene with T1D. 24,32 The majority of polymorphic sites within PTPN2 reside with intronic regions. 70 These variants are supposed to give rise to alternative splicing sites resulting in altered stability of mRNA or non-sense frameshifts as well as epigenetic consequences, which all lead to altered bioavailability of the protein.…”

Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus

“…As of 2014, an estimated 387 million people have diabetes worldwide, of which about 10% were diagnosed with T1DM. T1DM is usually caused by cellular-mediated autoimmune destruction of pancreatic β-cells, resulting in lifelong insulin-dependency [ 1 ]. Most T1DM cases were in children and adolescents.…”

“…A strong linkage disequilibrium was detected between rs1893217 and rs2542151 [ 15 , 24 ]. However, a study by Rheinheimer et al [ 1 ] indicated no association of rs1893217 polymorphism with T1DM. The relationship between the PTPN2 gene and T1DM remains controversial.…”