This study investigated the association between small ubiquitin-like modifier 4 (SUMO4) gene polymorphisms and type 2 diabetes mellitus (T2DM) in Chinese Han of Beijing area. Using the case-control method, we included 404 T2DM patients in T2DM group and 500 age- and gender- matched healthy subjects in control group. We detected the distribution of alleles and genotypes of the three single nucleotide polymorphisms (SNPs, rs237025, rs237024 and rs600739) with the polymerase chain reaction-high resolution melting curve (PCR-HRM) combined with gene sequencing, analysed the differences of glycosylated hemoglobin A1c (HbA1c) among different genotypes carriers in T2DM group, and conducted a haplotype analysis. In this study, the results showed that the frequency of the G allele of rs237025 was significantly higher in T2DM group than that of control group (0.334 vs. 0.282, P = 0.017). Compared with control group, the GA genotype carriers of T2DM patients had 1.563 times more susceptibility to T2DM [P =0.001; odds ratio (OR), 1.563; 95% confidence interval (CI), 1.189-2.053]. Meanwhile, the G allele carriers (GG+GA) of T2DM patients had 1.525 times more susceptibility to T2DM in the dominant model (GG+GA vs. AA, P = 0.002; OR,1.525; 95% CI,1.169-1.989). However, as for rs237024 and rs600739, no significant differences were found in the distribution of the genotypes and alleles between two groups (P >0.05).Although our study didn't observe any statistically significant results, we found that T2DM patients with GG and GA genotypes of rs237025, TT genotype of rs237024 and GG genotype of rs600739 had a higher level of HbA1c than counterparts in control group. In addition, the AAC, AGC and GGT haplotypes might contribute to susceptibility to T2DM (OR>1) , while the AAT and GAC haplotypes might be considered as protective factors against T2DM (OR<1). The results suggested that rs237025 polymorphisms was associated with susceptibility to T2DM, but rs237024 and rs600739 were not.
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