ABSTRACT
OBJECTIVE: The aim of the study was to determine the prevalence of the C677T mutation in a cohort of type 2 diabetic patients with and without elevated total plasma homocysteine (tHcy). METHODS: 80 type 2 diabetic patients with hyperhomocysteinaemia (group 1, tHcy: 21.3 +/- 6.7 micromol/L) and 50 subjects with normal levels (group 2, tHcy 11.2 +/- 2.3 micromol/L) were studied. C677T mutation was assessed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: Homozygosity was present in 23% of patients in group 1 and 8% in group 2 (P<0.02). No significant difference in heterozygosity frequency was observed between patients with and without hyperhomocysteinaemia. T allele frequency was 0.43 in group 1 and 0.35 in group 2. CONCLUSION: C677T mutation is frequent in diabetic patients with hyperhomocysteinaemia and could contribute, besides non genetic factors, to increased levels of tHcy.
