MTHFR基因C677T多态性与冠心病患者血浆同型半胱氨酸和叶酸水平相关

基础医学与临床 ›› 2011, Vol. 31 ›› Issue (7): 773-776.

MTHFR基因C677T多态性与冠心病患者血浆同型半胱氨酸和叶酸水平相关

胡小平¹,刘春莲¹,武玲²,戴晓婧³,彭亮¹,焦海燕¹,陈银涛⁴

1. 宁夏医科大学
2. 宁夏医科大学第一附属医院
3. 日本东京大学
4. 日本东京大学，日本东京 113-0033

收稿日期:2010-08-23 修回日期:2010-09-25 出版日期:2011-07-05 发布日期:2011-07-05
通讯作者: 焦海燕 E-mail:hyjiao1602@hotmail.com
基金资助:
宁夏自然科学基金（NZ0876）;省自然科学基金

Association of methylenterahydrofolate reductase gene C677T polymorphism and plasma homocysteine and folate concentration with coronary heart disease

Xiao-ping HU¹,Chun-lian LIU²,Ling WU²,Xiao-jing DAI²,Liang PENG²,Hai-yan JIAO¹,Yin-tao CHEN²

1. Key Laboratory of Fertility Preservation and Maintenance (Ningxia Medical University), Ministry of Education;
2. Dept. of Medical Cenetics and Cell Biology;
3. the First Affiliated Hospital，Ningxia Medical University，Yinchuan 750004, China;
4. University of Tokyo, Tokyo 113-0033, Japan

Received:2010-08-23 Revised:2010-09-25 Online:2011-07-05 Published:2011-07-05
Contact: Hai-yan JIAO E-mail:hyjiao1602@hotmail.com

摘要/Abstract

摘要： 目的研究宁夏地区汉族人群5,10- 亚甲基四氢叶酸还原酶基因( MTHFR ) C677T多态性、同型半胱氨酸水平(Hcy)及叶酸水平与冠心病（CHD）的相关性。方法　用病例-对照研究方法，限制性片段长度多态性扩增技术(PCR-RFLP )分析宁夏地区汉族202例冠心病患者及199例正常人群MTHFR C677T基因型频率及基因频率的分布特点。荧光偏振免疫分析法测定血浆Hcy水平，化学发光免疫分析法测定血清叶酸、VitB12浓度。结果（1）病例组与对照组MTHFR C677T基因型频率分别为 CC型 23.3% vs 20.7% 、CT型 52.3% vs 54.5% 和 TT型 24.4% vs 24.8%，两组间基因型及基因分布无差异。（2）冠心病患者组中MTHFR基因C677T CC基因型患者血浆Hcy浓度(10.84 μmol/L) 较T基因型携带者(12.24 μmol/L ) 低（P<0.01）。CC基因型患者血浆叶酸浓度(5.38 μg/L) 较T基因型携带者(3.72 μg/L)高 (P<0.05)。结论 MTHFR C677T的3种基因型在宁夏汉族冠心病患者和正常人群中的分布无统计学意义。MTHFR基因C677T多态性与冠心病的危险因素Hcy水平，叶酸水平相关。

Abstract: Objective To investigate the correlation between methylenterahydrofolate reductase (MTHFR) gene C677T polymorphism, homocysteine (Hcy), folate and coronary heart disease (CHD) in the Han population of Ningxia, China. Methods In this case-control study, we selected 202 patients with CHD and 199 normal controls in Han population from Ningxia. The gene polymorphism of MTHFR C677T was detected by PCR-RFLP assay. Plasma Hcy concentrations were measured by fluorescence polarization immunoassay (FPIA) and serum folate and vitamin B12 concentrations by chemiluminescent immuno assay (CLIA). Results (1) In CHD and control groups, the frequencies of MTHFR C677T genotype were CC (homozygous wild) 23.3% vs 20.7% , CT (heterozygous) 52.3% vs 54.5% and TT (homozygous mutant) 24.4% vs 24.8% respectively. There was no difference in the genotype and allele frequency distribution of MTHFR C677T polymorphism between two groups. (2) In CHD group, the plasma Hcy concentration of individuals with CC genotype was lower than that of T allele carriers (10.84 μmol/L vs 12.24 μmol/L, P< 0.01). The plasma folate concentration of individuals with CC genotype was higher than that of T allele carriers (5.38 μg/L vs 3.72 μg/L, P=0.01). Conclusion There was no significant difference between CHD patients and normal people in genetic polymorphism of MTHFR C677T in Han population of Ningxia. The polymorphism of MTHFR C677T was related to the level of plasma Hcy and folate, which possibly were the risk factor of CHD.

中图分类号:

胡小平刘春莲武玲戴晓婧彭亮焦海燕陈银涛. MTHFR基因C677T多态性与冠心病患者血浆同型半胱氨酸和叶酸水平相关 [J]. 基础医学与临床, 2011, 31(7): 773-776.

Xiao-ping HU Chun-lian LIU Ling WU Xiao-jing DAI Liang PENG Hai-yan JIAO Yin-tao CHEN. Association of methylenterahydrofolate reductase gene C677T polymorphism and plasma homocysteine and folate concentration with coronary heart disease[J]. Basic & Clinical Medicine, 2011, 31(7): 773-776.