Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism in Korean Chronic Renal Failure Patients: Impacts on Hyperhomocysteinemia and Peripheral Atherosclerosis / 대한신장학회지

ABSTRACT

PURPOSE: Recently, many studies have investigated that Methylenetetrahydrofolate Reductase (MTHFR) polymorphism may be not a only cause for hyperhomocysteinemia, but also an independent risk factor for cardiovascular disease or atherosclerosis in renal failure patients. In this study, we analyzed MTHFR polymorphisms in chronic renal failure (CRF) patients, and investigated relationship between MTHFR polymorphism and peripheral atherosclerosis. METHODS: One hundred twenty eight CRF patients with GFR < 30 mL/min were enrolled. We analyzed their MTHFR polymorphism by standard PCR/restriction fragment length polymorphism and measured their ankle brachial index (ABI) using blood pressure cuff and Doppler stethoscope. Plasma homocysteine, vitamin B12, and folic acid levels were measured. 170 healthy peoples were enrolled for control group. RESULTS: The distribution of MTHFR 677 polymorphism of CRF patients was as follows: CC genotype, 33.6%; CT, 47.7% and TT 18.7%. Plasma homocysteine concentration was higher in TT group than in CC group (p < 0.05). The distribution of MTHFR 1298 polymorphism of CRF patients was as follows: AA type, 63.78%; AC, 33.07% and CC 18.7%. The distributions of MTHFR polymorphisms in control group were not different from patients group, respectively. There was no definite correlation between ABI and plasma homocysteine concentration. A trend of lower ABI in TT type compared with CC type within CRP patients group, but no statistical significance was shown. CONCLUSIONs: No difference of the distribution of MTHFR polymorphism was noted between CRF patients and healthy population. In CRF patients, MTHFR C677T mutation was closely associated with hyperhomocysteinemia, but both did not significantly influence to peripheral arterial disease.