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

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.