动脉粥样硬化性脑梗死患者血浆同型半胱氨酸水平及亚甲基四氢叶酸还原酶基因多态性

目的 探讨血浆同型半胱氨酸水平、亚甲基四氢叶酸还原酶基因多态性与动脉粥样硬化性脑梗死之间的关系.方法 选择性别、年龄匹配的动脉粥样硬化性脑梗死患者(脑梗死组)68例及对照组50例,采用荧光偏振免疫法测定血浆同型半胱氨酸水平,聚合酶链反应-限制性片长多态性技术检测亚甲基四氢叶酸还原酶基因多态性.结果 脑梗死组TT基因型(36.8%比16.0%)及T等位基因频率(59.6%比38.0%)均显著高于对照组(P<0.05).脑梗死组血浆同型半胱氨酸水平显著高于对照组(P<0.05).脑梗死组和对照组亚甲基四氢叶酸还原酶 677TT纯合子血浆同型半胱氨酸水平均显著高于CT型和CC型者(P<0.05).结论 血浆同型半胱氨酸水平升高是动脉粥样硬化性脑梗死的危险因素.亚甲基四氢叶酸还原酶 C677T基因多态性与血浆同型半胱氨酸水平密切相关,与动脉粥样硬化性脑梗死显著相关.     

亚甲基四氢叶酸还原酶基因多态性与原发性高血压患者合并冠心病的相关性研究

目的探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点突变与河南豫北地区原发性高血压及其合并冠心病发病的关系。方法选择原发性高血压患者405例为高血压组,高血压合并冠心病患者400例为冠心病组,健康体检者400例为对照组。对3组MTHFR基因C677T多态性进行基因分型。结果冠心病组T等位基因频率和TT基因型频率明显高于高血压组和对照组(P<0.05)。冠心病组TT基因型患者TC和血浆同型半胱氨酸水平明显高于CC+CT基因型(P<0.05)。结论 MTHFR基因C677T多态性与原发性高血压患者冠心病的发生相关。     

MTHFR基因多态性与法洛四联症的相关性研究

目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与法洛四联症(TOF)的关系。方法选择136例TOF患儿(观察组)和277例健康儿童(对照组),应用PCR-限制性片段长度多态性结合直接测序法对两组MTHFR基因C677T位点多态性进行检测,分析两组基因型频率分布及各基因型与TOF的关系。采用SPSS13.0软件对数据进行分析。结果 MTHFR基因C677T突变基因型TT在观察组发生率显著高于对照组,P<0.05(χ2=11.89);T等位基因携带者患TOF的风险高于C等位基因携带者(OR=0.553,95%CI为0.412 3～0.741 4)。结论MTHFR基因多态性与TOF存在明显相关性,MTHFR基因可能是TOF的遗传易感基因。     

MTHFR C677T基因多态性与缺血性脑血管病的相关性

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与缺血性脑血管病的相关性。方法:运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对512例缺血性脑血管病患者和500例健康对照者进行MTHFR C677T基因多态性分析。结果:缺血性脑血管病患者中突变纯合子TT基因型频率为40%,突变杂合子CT基因型频率42·6%,野生型CC基因型频率为17·4%;对照组中TT基因型频率为32·8%,CT基因型频率为34·6%,CC基因型频率为32·6%;患者组和对照组T等位基因频率分别为61·3%和51·1%,C等位基因频率分别为38·7%和49·9%,以上各频率之间均有显著性差异(P<0·05)。结论:MTHFR C677T基因多态性与缺血性脑血管病的发生有一定关系,可能是缺血性脑血管病的一个重要危险因素。     

亚甲基四氢叶酸还原酶C677T位点基因多态性对采用叶酸联合维生素B_(12)治疗的老年H型高血压患者的影响研究

目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性对采用叶酸联合维生素B_(12)治疗的老年H型高血压患者的影响。方法选取2015年9月—2017年9月莱芜市人民医院收治的老年H型高血压患者146例,均在常规降压治疗基础上采用叶酸联合维生素B_(12)连续治疗4个月。采用聚合酶链反应(PCR)-芯片杂交法检测MTHFR C677T位点基因多态性,比较不同基因型患者高血压分级,治疗前后血浆同型半胱氨酸(Hcy)水平、颈动脉粥样硬化斑块积分及不稳定斑块检出率。结果 146例患者中CC基因型26例(占17.8%),CT基因型46例(占31.5%),TT基因型74例(占50.7%)。不同基因型患者高血压分级比较,差异无统计学意义(P0.05)。治疗前、后TT基因型患者血浆Hcy水平高于CC基因型、CT基因型(P0.05)。治疗后CC基因型、CT基因型患者血浆Hcy水平低于治疗前(P0.05)。治疗前、后TT基因型患者颈动脉粥样硬化斑块积分高于CC基因型、CT基因型,CT基因型患者颈动脉粥样硬化斑块积分高于CC基因型(P0.05)。治疗后CC基因型、CT基因型患者颈动脉粥样硬化斑块积分低于治疗前(P0.05)。治疗前、后不同基因型患者颈动脉不稳定斑块检出率比较,差异无统计学意义(P0.05)。结论叶酸联合维生素B_(12)降低老年H型高血压患者血浆Hcy水平、颈动脉粥样硬化斑块积分效果与MTHFR C677T位点基因多态性有关,其中TT基因型患者的降低效果不如CC基因型、CT基因型,临床应当考虑遗传因素和基因多态性。     

汉族脑卒中与N5,N10亚甲基四氢叶酸还原酶基因多态性的相关性研究

目的　探讨人体 N5,N1 0亚甲基四氢叶酸还原酶 (MTHFR)的基因多态性与脑卒中的遗传相关性。方法　采用限制性内切酶片段长度多态性方法 (PCR- RFLP) ,对 67例脑卒中病人和 78例健康人 MTHFR基因 C677T多态性位点进行检测。结果　病例组 MTHFR基因 T、C等位基因频率分别为 53%、47%,对照组为 39.7%、60 .3%,两组显著性差异 (χ2 =5.0 9,P<0 .0 5)。 TT型携带者较 CC型携带者罹患脑卒中的相对风险度为 2 .35(95%CI1 .0 2～ 5.43)。 T等位基因携带者较 C等位基因携带者罹患脑卒中的相对风险度为 1 .71 (95%CI1 .0 7～ 2 .74)。出血性卒中与缺血性卒中之间等位基因及等位基因型频率无明显差异。结论　脑卒中汉族人群 MTHFR基因 C677T位点多态性与脑卒中有相关性 ,MTHFR基因可能是脑卒中的一个易感基因。     

糖尿病患者同型半胱氨酸及其代谢相关酶基因多态性与颈动脉内膜—中膜厚度的关系

目的探讨2型糖尿病患者同型半胱氨酸水平及其代谢过程的相关酶甲基四氢叶酸还原酶基因C677T和胱硫醚缩合酶基因T833C位碱基突变与颈动脉内膜-中膜厚度的关系.方法用酶联免疫吸附法测定同型半胱氨酸水平,采用聚合酶链反应-限制片长多态性方法检测甲基四氢叶酸还原酶基因C677T基因型多态性,用扩增阻滞突变体系法检测胱硫醚缩合酶基因T833C多态性,用彩色多普勒检查颈动脉内膜-中膜厚度.结果糖尿病颈动脉内膜-中膜厚度增厚组甲基四氢叶酸还原酶基因和胱硫醚缩合酶基因构成与糖尿病颈动脉内膜-中膜厚度正常组及对照组存在统计学差异(P＜0.05).三组甲基四氢叶酸还原酶基因和胱硫醚缩合酶基因突变者血浆同型半胱氨酸均高于无基因突变者.糖尿病组甲基四氢叶酸还原酶基因和胱硫醚缩合酶基因突变者颈动脉内膜-中膜厚度明显高于无基因突变者.结论同型半胱氨酸代谢过程中关键酶基因变异可造成相关酶活性改变,进而出现高同型半胱氨酸血症促进糖尿病动脉粥样硬化的形成.甲基四氢叶酸还原酶基因C677T点突变和胱硫醚缩合酶基因T833C点突变可能是糖尿病合并血管病变发病的重要遗传因素.     

N5,N10-亚甲四氢叶酸还原酶基因多态性及血浆同型半胱氨酸水平与心肌梗死的关系

研究N^5,N^10-亚甲四氢叶酸还原酶基因多态性及血浆同型半胱氨酸水平与心肌梗死的关系。运用多聚酶链反应-限制片长多态性技术检测178例心肌梗死患者及178例正常人N^5,N^10-亚甲四氢叶酸还原酶基因多态性，用高效液相色谱仪和荧光检测仪测定血浆总同型半胱氨酸水平。结果发现，N^5,N^10-亚甲四氢叶酸还原酶有3种基因型，即纯合子突变型（TT），杂合子突变型（TC）及正常型（CC），心肌梗死组TT型频率为35.4%，TC型频率为53.8%。CC型频率为10.8%。T等位基因频率为62.3%。C等位基因频率为37.7%，正常组中TT型频率为20.1%。TC型频率为55.8%。CC型频率为24.1%。T等位基因频率为32.1%,C等位基因频率为67.9%，且心梗死组TT高于正常组。正常人群中TT基因型者血浆总同型半胱氨酸水平明显高明于（TC CC）基因型者，心肌梗死患者血浆总同型半胱氨酸水平显著高于正常组，多因素分析显示，N^5,N^10-亚甲四氢叶酸还原酶基因突变型TT可能是心肌梗死发病一个危险因素，结论提示，N^5,N^10-亚甲四氢叶酸还原酶TT基因型突变可能升高个体血浆总同型半胱氨酸水平，N^5,N^10-亚甲四氢叶酸还原酶基因可能是心肌梗死的易感基因之一，N^5,N^10-亚甲四氢叶酸还原酶基因突变型TT及高同型半胱氨酸血症可能是心肌梗死发病的一个危险因素。     

MTHFR C677T基因多态性与老年H型高血压患者肾损害的关系

目的 探讨亚甲基四氢叶酸还原酶(MTHFR C677T)基因多态性与老年H型高血压患者肾损害的相关性。方法 198例老年H型高血压患者根据是否合并肾损害分为高血压肾损害(HRD)组(n=75)和单纯高血压(HNRD)组(n=123),另选取同期体检的老年非高血压患者作为对照组(n=40)。收集各组临床资料；采用实时定量聚合酶(RT-PCR)法进行各组MTHFR C677T基因型的测定，利用Logistic回归模型分析老年H型高血压患者发生肾损害的影响因素。结果 HRD组及HNRD组CC基因型频率明显低于对照组(P<0.05);且HRD组CC基因型频率明显低于HNRD组，CT基因型频率明显高于HNRD组(P<0.05)。HRD组、HNRD组和对照组C等位基因及T等位基因分布频率组间差异均有统计学意义(P<0.05)。多因素Logistic回归分析显示，MTHFR C677T基因T等位基因(OR=2.147,95%CI:1.347～3.423)是H型高血压患者发生肾损害的独立影响因素(P<0.05)。结论 MTHFR C677T基因多态性与老年H型高血压患者肾损害的...     

血浆同型半胱氨酸及5,10-亚甲基四氢叶酸还原酶基因多态性与老年原发性高血压合并冠心病的关系

目的探讨血浆同型半胱氨酸(Hcy)水平及其代谢酶5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与老年原发性高血压合并冠心病的关系。方法选择2014年2月~2015年2月于玉林市第一人民医院心内科住院的老年原发性高血压患者共200例,其中男性115例,女性85例,平均年龄(67.52±3.53)岁。根据冠状动脉造影结果分为高血压组(100例)及冠状动脉粥样硬化性心脏病(冠心病)组(100例)。选取同时期的健康体检者100例为对照组。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法检测3组MTHFR C677T基因型,同时检测Hcy水平。结果与对照组比较,高血压组和冠心病组血压、三酰甘油、总胆固醇、低密度脂蛋白胆固醇、Hcy均升高,差异有统计学意义(P均0.05)。高血压组MTHFR C677位点CC、CT和TT基因型频率分别为27.0%、50.0%和23.0%,C和T等位基因频率分别为52.0%和48.0%。冠心病组CC、CT和TT基因型频率分别为12.0%、55.0%和33.0%,C和T等位基因频率分别为39.5%和60.5%。对照组CC、CT和TT基因型频率分别为40.0%、45.0%和15.0%,C和T等位基因频率分别为62.5%和37.5%。冠心病组TT型基因频率及T等位基因频率均高于高血压组和对照组,差异有统计学意义(P均0.05)。冠心病组患者TT型Hcy水平高于CC型和CT型,差异有统计学意义(P均0.05)。结论 MTHFR C677T基因多态性中TT基因型可能是老年原发性高血压合并冠心病的一个重要遗传风险因子,T等位基因可能为该病的风险等位基因。     

Homocysteine and the C677T Gene Polymorphism of Its Key Metabolic Enzyme MTHFR Are Risk Factors of Early Renal Damage in Hypertension in a Chinese Han Population

The combined hyperhomocysteinemia condition is a feature of the Chinese hypertensive population. This study used the case-control method to investigate the association between plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme, 5, 10-methylenetetrahydrofolate reductase (MTHFR), and early renal damage in a hypertensive Chinese Han population.A total of 379 adult essential hypertensive patients were selected as the study subjects. The personal information, clinical indicators, and the C677T gene polymorphism of MTHFR were texted. This study used the urine microalbumin/urine creatinine ratio (UACR) as a grouping basis: the hypertension without renal damage group (NRD group) and the hypertension combined with early renal damage group (ERD group).Early renal damage in the Chinese hypertensive population was associated with body weight, systolic pressure, diastolic pressure, urea nitrogen, serum creatinine, cystatin C, uric acid, aldosterone, and glomerular filtration rate. The homocysteine level and the UACR in the TT genotype group were higher than those in the CC genotype group. The binary logistic regression analysis results showed that after sex and age were adjusted, the MTHFR C677T gene polymorphism was correlated with early renal damage in hypertension in both the recessive model and in the additive model.Plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme MTHFR might be independent risk factors of early renal damage in the hypertensive Chinese Han population.     

Associations of methylenetetrahydrofolate reductase C677T genotype with blood pressure levels in Chinese population with essential hypertension

Objective: To confirm the association between baseline blood pressure (BP) levels and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in patients with essential hypertension. Methods: A total of 347 patients were enrolled from the Dongzhi community in Anhui Province, China. The C677T polymorphism of the MTHFR gene was detected using high-throughput TaqMan allelic discrimination assay. Baseline BP was measured using a standardized mercury-gravity monometer. Results: In the whole sample, the frequency of the MTHFR C677T genotypes CC, CT, and TT were 38.6%, 48.1%, and 13.3%, respectively. In a recessive model (CC+CT versus TT genotypes), baseline diastolic blood pressure (DBP) was significantly higher in patients with the TT genotype compared to those with the CT or CC genotypes (P= 0.013). We also divided all patients into three groups based on the tertiles of the baseline BP distribution. Compared to subjects in the lowest tertile of DBP, the adjusted odds of having the TT genotype among subjects in the highest tertile was 2.6 (95% CI: 1.1 to 6.2). However, no significant associations were observed between baseline systolic blood pressure (SBP) and the MTHFR C677T polymorphism. Conclusions: The MTHFR gene polymorphism could be an important genetic determinant of baseline DBP levels in Chinese essential hypertensive patients.     

MTHFR基因多态性与冠心病的关系

目的研究天津地区人群N^5,N^10-亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性与冠心病的关系。方法应用聚合酶链反应（PCR）技术和限制性酶切片段长度多态性（RFLP）分析技术检测50例冠心病患者（冠心病组）和50例正常人（对照组）的MTHFR基因C677T多态性,应用高效液相色谱法测定血浆同型半胱氨酸（Hcy）水平,采用125I标记放免法测定血清叶酸浓度。结果1.冠心病组与对照组MTHFR基因频率分布不同（P〈0.05）,对照组CC型、TC型、TT型基因频率分别为52.0%,28.0%,20.0%,冠心病组分别为26.0%,44.0%,30.0%。冠心病组T等位基因频率为52.0%,C等位基因频率为48.0%,与对照组比较有显著性差异（P〈0.05）。2.两组的TT基因型者血浆Hcy浓度均明显高于CC和TC基因型者（P〈0.05）,而后两者间无显著性差异（P〉0.05）。3.冠心病组Hcy浓度高于照组（P〈0.05）,两组叶酸水平无显著性差异（P〉0.05）,血浆Hcy浓度与叶酸水平呈显著负相关（r分别为-0.617和-0.588,P〈0.05）。结论MTHFR基因C677T点突变与冠心病发病密切相关,MTHFR基因纯合突变是引起高Hcy血症的一个重要的遗传因素。     

亚甲基四氢叶酸还原酶基因多态性与原发性高血压伴周围动脉闭塞性疾病的易感性

目的　探讨北京万寿路社区老年人群亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase ,MTHFR)基因多态性与原发性高血压 (essentialhypertension ,EH)及EH伴周围动脉闭塞性疾病 (peripheralarterialocclusivedisease ,PAOD)的易感性。方法　用聚合酶链反应 限制性片段长度多态性技术 ,检测了 10 0例健康老年人 (NC组 )、10 0例老年EH(EH组 )及 5 9例老年EH伴PAOD患者 (EH PAOD组 )的MTHFR基因多态性。结果　MTHFR等位基因呈多态性。NC组 3种基因型频率为 :CC ,31.0 % ;CT ,5 0 .0 % ;TT ,19.0 %。EH组分别为 :CC ,2 9.0 % ;CT ,4 5 .0 % ;TT ,2 6 .0 %。EH PAOD组分别为 :CC ,15 .9% ;CT ,35 .5 % ;TT ,4 8.6 %。 3组MTHFR基因的C6 77T单核苷酸突变中T突变位点的频率分别为 4 4 .0 %、4 8.5 %、6 4 .4 %。EH PAOD组与NC组、EH PAOD组与EH组比较TT基因型频率和T等位基因频率均呈显著性差异。结论　MTHFR基因C6 77T单核苷酸突变是老年EH伴PAOD的危险因素之一 ,但可能与老年EH无关。     

Methylenetetrahydrofolate reductase gene polymorphisms in essential hypertension relation: with the development of hypertensive end-stage renal disease

BACKGROUND: The pathogenesis of hypertensive nephropathy is multifactoral and in addition to BP, other factors contribute to the development of this renal pathology and its progression to end-stage renal disease. These include genetic predisposition and increased pleasure level of homocysteine-intermediate protein catabolism product known to induce kidney injury. The 677C --> T polymorphism in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is associated with elevated homocysteine level in the general population, and therefore it has been hypothesized to be a risk factor for the development of renal failure in the course of essential hypertension. METHODS: In this case-control, cross-sectional study the frequency of the MTHFR 677C --> T and the 1298A --> C polymorphism was compared between patients with hypertension-related chronic renal failure (n = 90), patients with essential hypertension without kidney injury (n = 90), and healthy individuals (n = 90) who were matched for age and gender. In addition, the influence of these polymorphisms on homocysteine concentration in individuals with essential hypertension was examined. RESULTS: The frequency of the MTHFR 677 TT genotype did not differ between groups (4.5%, 12.3%, and 11.1%, respectively). Patients with hypertension and the 677TT genotype showed significantly higher homocysteine levels as compared to individuals having CC and CT. In the multivariate correlation analysis the MTHFR 677TT genotype (P < .01; beta = 0.27), age (P < .001; beta = 0.33), and body mass index (P < .01; beta = 0.3) were independent predictors for total homocysteine level. CONCLUSIONS: Plasma homocysteine levels in individuals with essential hypertension is affected by the MTHFR 677C --> T polymorphism. However, we did not prove the hypothesis that MTHFR 677C --> T influences the risk of development of renal failure in the course of hypertension.     

Genetic polymorphism of methylenetetrahydrofolate reductase as a risk factor for diabetic nephropathy in Chinese type 2 diabetic patients

OBJECTIVE: Genetic predisposition has been implicated in diabetic nephropathy (DN). The C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, may play a role in the development of not only vascular disease but also diabetic microangiopathies. In this study, we examined the distribution of the MTHFR genotypes in the Chinese population and the association between the C677T variant and diabetic nephropathy. METHODS: 220 unrelated patients with type 2 diabetes mellitus and 130 controls were recruited. The MTHFR genotype was analyzed by PCR followed by HinfI digestion. Plasma total homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection. RESULTS: In 130 healthy control subjects, the frequency of the mutant T allele was 30.0%, comparable to that of a Hong Kong (Chinese) population. The distribution of the three genotypes was as follows: TT genotype, 16.9%; CT genotype, 26.2%; and CC genotype, 56.9%. This genotype distribution did not differ between control subjects and type 2 diabetic patients in which 19.1% were TT, 34.5% were CT and 46.4% were CC (2=3.85, P>0.05). The frequency of the mutant T allele was 42.3% in diabetic patients with nephropathy (n=124) versus 28.6% in those without nephropathy (n=96). The genotype frequencies were TT, 21.0%; CT, 42.7%; CC, 36.3% in diabetic patients with nephropathy versus TT, 16.7%; CT, 23.9%; CC, 59.4% in those without nephropathy. The MTHFR genotype and allele frequencies were different between diabetic patients with and without nephropathy (chi2=12.27, P<0.005; chi2=8.77, P<0.005, respectively). Moreover, plasma homocysteine levels were markedly higher in individuals with TT genotype than those with CC or CT genotype. CONCLUSIONS: The C677T mutation of MTHFR gene is common in the Chinese population. MTHFR C677T gene polymorphism associated with a predisposition to increased plasma homocysteine levels may represent a genetic risk factor for diabetic nephropathy in Chinese type 2 diabetic patients.     

The relationship of the methylenetetrahydrofolate reductase C677T gene polymorphism in Turkish type 2 diabetic patients with and without nephropathy

BACKGROUND: Poor glycaemic control, hypertension and duration of diabetes are risk factors for the development of diabetic nephropathy, but there may be genetic factors. Recently, a common C to T mutation at nucleotide position 677 of the MTHFR gene (MTHFR677C > T) has been reported to be correlated with hyperhomocysteinemia and the severity of coronary artery disease as macroangiopathy. We aim to investigate Turkish type 2 diabetic patients with/without diabetic nephropathy and healthy group and examine the contribution of the MTHFR gene polymorphism to the development of diabetic nephropathy. METHODS: DNA was extracted from peripheral leukocytes of the subjects. Genotyping of the MTHFR C677T polymorphism for all individuals was performed by melting curve analysis of the generated amplicons after real-time online PCR. RESULTS: This genotype distribution did not differ between control subjects and type 2 diabetic patients in which 6.8% were TT, 43.7% were CT and 49.5% were CC (chi2 = 0.201, p > 0.05). The frequency of the mutant T allele was 23.4% in diabetic patients with nephropathy versus 33.0% in those without nephropathy. The genotype frequencies were TT, 2.1%; CT, 46.6%; CC, 55.3% in diabetic patients with nephropathy versus TT, 10.7%; CT, 44.6%; CC, 44.6% in those without nephropathy. CONCLUSIONS: The MTHFR genotype and allele frequencies were not different between diabetic patients with and without nephropathy (chi2 = 3, 386, p > 0.005; chi2 = 2.320, p > 0.005, respectively). Therefore, we conclude that the MTHFR gene polymorphism is not associated with the development of diabetic nephropathy in Turkish type 2 diabetic patients.     

N5，10-亚甲基四氢叶酸还原酶基因多态性与蒙古族原发性高血压病的关系

目的探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点突变与蒙古族高血压病患者之间的关系。方法采用Sequenom系统检测110例高血压病患者及115例健康对照组MTHFR基因多态性。结果蒙古族高血压人群MTHFR基因TT基因型频率及T等位基因频率(0.15,0.32)与正常人群(0.10,0.29)相比差异无显著性(P>0.05);单纯收缩压增高人群MTHFR基因型TT基因型及T等位基因频率(0.23,0.40)高于正常人群,差异有显著性(P<0.05)。结论MTHFR C677T位点TT基因型及T等位基因突变增加蒙古族人群单纯收缩压增高的危险性,可能是单纯收缩期高血压病的易感基因。     

冠心病患者亚甲基四氢叶酸还原酶基因多态性87例研究

目的探讨N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与冠心病的关系。方法对2003年11月至2005年8月贵阳医学院附属医院及贵州市第二人民医院住院的87例冠心病患者(冠心病组)及同期在门诊进行健康体检的73名健康人(对照组),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测其MTHFRC677T基因多态性。结果对照组与冠心病组MTHFR677位T等位基因的分布频率分别是18.5%,36.1%,病例组MTHFR基因C677T的CT基因型及T等位基因频率显著高于对照组,差异有显著性(P<0.05)。结论MTHFRC677T基因多态性与冠心病密切相关。