The relationship of methylenetetrahydrofolate reductase gene polymorphism and plasma homocysteine levels in type 2 diabetes mellitus patients with diabetic retinopathy.
- Author:
Jiazhong SUN
1
;
Yancheng XU
;
Yilian ZHU
;
Hongyun LU
;
Haohua DENG
;
Youjun FAN
;
Suxin SUN
;
Ying ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Alleles; DNA; genetics; metabolism; Deoxyribonucleases, Type II Site-Specific; metabolism; Diabetes Mellitus, Type 2; blood; complications; genetics; Diabetic Retinopathy; blood; etiology; genetics; Female; Gene Frequency; Genotype; Homocysteine; blood; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Oxidoreductases Acting on CH-NH Group Donors; genetics; Point Mutation; Polymorphism, Genetic
- From: Chinese Journal of Medical Genetics 2003;20(2):131-134
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and plasma homocysteine levels in Chinese patients with type 2 diabetes mellitus and diabetic retinopathy (DR).
METHODSMTHFR genetic C677T polymorphisms were determined by PCR-restriction fragment length polymorphism. Total plasma homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection.
RESULTSThe frequencies of MTHFR T homogenetic type and CT heterogenetic type and allele T (28.18%, 41.82%, 49.09%) in type 2 diabetic patients with diabetic retinopathy were significantly higher than those in diabetic patients without retinopathy (18.37%,29.59%,33.16%) or the normal controls (17.54%, 28.07%, 31.58%). Howerver, there were no significant differences in the frequency of MTHFR genotype and allele between the type 2 diabetic patients without retinopathy and the normal controls. The presence of T allele appeared to have a strong association with the development of diabetic retinopathy. The odds ratio was 1.94 and the 95% confidence interval was 1.31-2.88. Moreover, the plasma homocysteine levels in patients with TT or CT genotype were markedly higher than those in patients with CC genotype.
CONCLUSIONMTHFR gene C677T mutation associated with a predisposition to increase of plasma homocysteine may represent a genetic risk factor for diabetic retinopathy in Chinese type 2 diabetes mellitus.
