MTR-G is a high-risk allele for lower-extremity arteriosclerotic occlusion.

Objective: This study investigated the relationship between the MTRA2576G polymorphism of the key enzyme in homocysteine metabolism and deep vein thrombosis (DVT), chronic venous insufficiency (CVI) and arteriosclerotic occlusion (ASO) of the lower extremities.

Methods: Genomic DNA was extracted from the peripheral blood of patients with lower-extremity vascular diseases, including 125 cases of DVT, 125 cases of CVI and 125 cases of ASO. DNA samples extracted from 197 healthy individuals were used as control samples. PCR-RFLP was used to investigate the polymorphisms of in these subjects.

Results: The frequency of the G allele in was 6.8%, 6.1% and 12.8% for the DVT group, CVI group and ASO group, respectively ( = 0.003). The frequency of the GG allele was 13.6%, 12.2% and 22.4% for the DVT group, CVI group and ASO group, respectively ( = 0.014). Only the allele frequency of GG in the ASO group was higher than that in the control group, and the disease risk was also 1.3 times higher than that in the control group (OR = 1.299, 95% CI = 1.025 ∼ 2.575).

Conclusion: Patients with the G allele in have a high risk for ASO, and the GG allele is a risk gene for ASO.