Aims: In present study, we aimed to evaluate whether the paired box gene 4 (PAX4) may play a role in the pathogenesis of type 1 diabetes (T1D) in Chinese Han population.
Methods: One hundred and thirty-four cases with T1D and 324 non-diabetic control subjects were selected randomly from Han Chinese. Three tag single nucleotide polymorphisms (SNPs, rs712701, rs2233580, rs2233575) according to HapMap data were selected to analyze. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype.
Results: No difference was found in genotype or allele frequencies between patients and non-diabetic controls in all three SNPs. No difference was found in common haplotypes constructed by these three SNPs, either. For the SNP rs2233575, in non-diabetic controls, the carriers with AA and GA genotypes had lower plasma insulin level than the subjects with GG genotype (P=0.048).
Conclusions: The present study identified that the PAX4 gene was not associated with the risk of T1D in a Han Chinese sample, suggesting that it is unlikely to have a major effect on the susceptibility to T1D in this population. This is the first study on the PAX4 gene in a Chinese population.