Korean Journal of Nephrology 2007;26(2):182-194.
Original Article : Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism in Korean Chronic Renal Failure Patients : Impacts on Hyperhomocysteinemia and Peripheral Atherosclerosis
Jung-Hwa Ryu, M.D.1, Bo-Young Kang, M.D.2, Min-A Yu, M.D.1, Dong-Ryeol Ryu, M.D.1,Seung-Jung Kim, M.D.1, Duk-Hee Kang, M.D.1, Kyu-Bok Choi, M.D.1 and Kyun-Il Yoon, M.D.1
Division of Nephrology1
Department of Internal Medicine, Ewha Womans University College of Medicine, Seoul; Medical Research Institute2
Ewha Womans University College of Medicine, Seoul
임상연구 : 만성 신부전 환자에서 Methylenetetrahydrofolate reductase (MTHFR)유전자 다형성이 고호모시스테인혈증과 말초혈관 동맥경화에 미치는 영향 : 만성 신부전 환자에서 MTHFR 유전자 다형성의 의미 MTHFR 유전자 다형성과 말초혈관 동맥경화의 연관성
류정화1
이화여자대학교 의과대학 신장내과1, 이화여자대학교 의과대학 의과학연구소2
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. Key Words : Methylenetetrahydrofolate reductase, Hyperhomocysteinemia, Peripheral vascular disease
Key Words: Methylenetetrahydrofolate reductase, Hyperhomocysteinemia, Peripheral vascular disease
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