Abstract: Objective To investigate the association of paired box4 (Pax4) gene Arg121Trg single nucleotide polymorphism with impaired glucose tolerance in Kunming, Yunnan province. Methods 430 patients with type 2 diabetes mellitus(T2DM) , 200 people with impaired glucose tolerance (IGT) and 446 normal volunteers(NGT) were recruited in the study．Pax4 gene Arg121Trg single nucleotide polymorphism was identified by high resolution melting and DNA direct sequencing. The distribution of genotype and allele in three groups were investigated. We also observed the association of clinic phenotype with two subsets in type 2 diabetes mellitus group. Results 1) This study indicated that GG genotype and A allele frequencies of Pax4 gene Arg121Trg variant were 0.909, 0.047 in T2DM group, 0.935 and 0.035 in IGT group , 0.939 and 0.03 in NGT group respectively. 2) Among 430 people with type 2 diabetes mellitus, rate of insulin users was higher in GA/AA genotype compared with the patients with GG genotype (P=0.001). No significant difference of other clinical data was observed in T2DM patients with different genotype. Conclusions A allele of Pax4 gene Arg121Trg polymorphism might be a molecular marker for β cell function progressively deterioration in Kunming T2DM patient, Yunnan province.

Key words: Key words: Pax4 gene, polymorphism, type 2 diabetes mellitus, high resolution melting