Polymorphisms rs2233575 and rs712701 in the paired box 4 gene are not associated with type 1 diabetes in children

Type 1 diabetes mellitus (T1D) is a severe disease affecting many children and adolescents. Paired box 4 (PAX4) is considered an essential transcription factor associated with the differentiation and functioning of beta cells. Mutations and polymorphisms that weaken the PAX4 transcription activity reduce the proliferation of beta cells and unabated apoptosis. We investigated the association of polymorphisms rs2233575 and rs712701 (His321Pro; H321P) in PAX4 in a case-control study. Euro-Brazilian children with T1D (n = 148) and healthy children (control, n = 168) were matched by gender and age. Genotyping of the polymorphisms was performed using restriction fragment length polymorphism-polymerase chain reaction (for rs2233575) and TaqMan® fluorescent probe assay (for rs712701). rs712701 was in Hardy-Weinberg equilibrium. The minor allele frequency (T-allele) for healthy and T1D subjects was 26.5% [95% CI, 22–31] and 25.3% [95% CI, 20–30], respectively (P = 0.742). For rs2233575, the genotype GG was detected in both groups. The minor allele (T-allele) frequency for rs712701 was similar to that in other Caucasian populations. In conclusion, the polymorphisms rs2233575 and rs712701 were not associated with T1D in the.