MTHFR gene polymorphism as a risk factor for diabetic nephropathy and macrovascular disease in NIDDM patient.
- Author:
Jong Sung SHIN
1
;
Kwang Sik OH
;
Soon Kil KWON
;
Jeong Hoon JI
;
Tae Won LEE
;
Young Sun PARK
;
Mi Sung KIM
;
Seong Su KOONG
;
Tae Geun OH
Author Information
1. Department of Internal Medicine, Chungbuk National University College of Medicine, Cheongju, Korea.
- Publication Type:Original Article
- Keywords:
MTHFR;
NIDDM;
Diabetic Nephropathies;
Macrovascular disease
- MeSH:
Cytosine;
Diabetes Mellitus;
Diabetes Mellitus, Type 2*;
Diabetic Nephropathies*;
Diabetic Retinopathy;
Digestion;
Electrophoresis;
Ethidium;
Fibrinogen;
Gene Frequency;
Genotype;
Humans;
Hypertension;
Metaphor;
Methylenetetrahydrofolate Reductase (NADPH2);
Polymerase Chain Reaction;
Prevalence;
Risk Factors*;
Sepharose;
Thymidine;
Vascular Diseases
- From:Korean Journal of Medicine
2001;61(4):391-398
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND: Diabetic nephropathy develops in 20-30% of patients with non-insulin dependent diabetes mellitus (NIDDM). Poor glycemic control, hypertension and duration of diabetes are known as risk factors for the development of diabetic nephropathy and there is high prevalence of diabetic nephropathy in the patients who have familial history of diabetic nephropathy, so it has been assumed that genetic factor is associated with the background of its occurences. Recently it has been observed that a cytosine to thymidine substitution of the methylenetetrahydrofolate reductase (MTHFR) gene at nucleotide 677 (C677T) was related to diabetic nephropathy in patients with NIDDM and MTHFR gene polymorphism was also known to predispose to vascular disease. This study was performed to investigate whether MTHFR gene polymorphism is associated with the development of diabetic nephropathy and macrovascular disease in NIDDM patients. METHODS: The study population consisted of 243 NIDDM patients (duration> OR = 10 years). Nephropathy was defined by 24 hour urinary protein excretion of more than 500 mg. The MTHFR gene fragment was extracted using the polymerase chain reaction. The presence of the mutation was identified by HinfI digestion, which cuts at the mutation site, followed by 2.5% metaphore agarose electrophoresis and ethidium bromide staining. Statistical differences in genotype distribution and allele frequencies among the groups were assessed by the chi-square test. RESULTS: There was no difference in clinical characteristics except the prevalence of hypertension and diabetic retinopathy between nephropathy group and non-nephropathy group. The data do not show any difference of genotype distribution or allele frequencies between patients with or without diabetic nephropathy and macrovascular disease CONCLUSION: With the above results, it is assumed that there are no significant relationships among MTHFR gene polymorphism, diabetic nephropathy, and macrovascular disease.
