AimTo investigate the relationship of alpha 2-Heremans-Schmid glycoprotein (AHSG) gene polymorphism including four single nucleotide polymorphisms (SNPs) (rs4917, rs4918, rs1071592 and rs2248690) with type 2 diabetes mellitus (T2DM) and combined lower extremity atherosclerosis (LEA) in T2DM.MethodsA case-control study for 333 Kunming Han subjects including 88 normal control and 245 T2DM (84 without LEA and 161 T2DM with LEA) was performed.Four SNPs of AHSG gene polymorphism analysis were performed with polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) and allelic specific primer-polymerase chain reaction (ASP-PCR) in three groups.ResultsThe SNPs including rs4917 (C/T), rs4918 (C/G) and rs2248690 (A/T) frequency of geno-type and allele of AHSG gene had no significant differences in three groups (p>0.05).In the groups of T2DM without LEA and with LEA there were significant difference on the AC and AA frequency of genotype and A allele distributions in rs1071592 compared with control subjects (p<0.01 or p<0.05).The Logistic regression showed that A allele s of rs1071592 was an important risk factor in T2DM (OR=8.501, 95% CI 1.210-60.153).ConclusionsThe study suggested that A allele of rs1071592 was probably a predisposing gene for T2DM, but it was not found AHSG gene was related with T2DM combined LEA.