首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 171 毫秒
1.
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.  相似文献   

2.
该文探讨亚甲基四氢叶酸还原酶(MTHFR)C677T位点突变与蒙古族原发性高血压及高血压合并脑血管病患者之间的关系。方法:采用Se-quenom系统检测110例蒙古族(长期生活在内蒙古乌拉特后旗的三代血亲无其他民族的蒙古族人群)原发性高血压患者、78名高血压合并脑血管病患者及115例健康对照组MTHFR基因多态性。结果:蒙古族原发性高血压人群MTHFR基因TT基因型频率及T等位基因频率与正常人群相比差异无显著性(P>0.05);蒙古族高血压合并脑梗死人群与高血压合并脑出血人群的MTHFR基因型TT基因型及T等位基因频率分别明显高于正常对照组,有显…  相似文献   

3.
目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与河南中部地区汉族人群急性冠脉综合征(ACS)发生的关联性。方法招募河南中部地区汉族ACS患者280例作为观察组,选取同期行健康体检的河南中部地区汉族健康受试者286名作为对照组。采用荧光染色原位杂交技术检测两组MTHFR基因C677T、A1298C位点基因型,比较两组受试者各基因型及等位基因分布的差异,采用二元Logistic回归分析MTHFR基因多态性与ACS发生的关联性。结果两组各基因型分布频率均符合Hardy-Weinberg平衡(P0.05)。对照组MTHFR C677T位点CC、CT、TT型分布频率分别为31.82%、47.90%、20.28%,MTHFR A1298C位点AA、AC、CC型分布频率分别为73.78%、21.68%、4.54%;观察组MTHFR C677T位点CC、CT、TT型分布频率分别为16.43%、40.71%、42.86%,MTHFR A1298C位点AA、AC、CC型分布频率分别为69.29%、27.14%、3.57%。两组受试者MTHFR C677T各基因型分布频率及等位基因频率比较差异有统计学意义(P0.05),而MTHFR A1298C各基因型分布频率及等位基因频率比较差异无统计学意义(P0.05)。二元Logistic回归分析显示,MTHFR C677T基因型是ACS发生的影响因素(P0.05),以TT型为参照,CC型发生ACS的可能性是TT型的24.4%,CT型发生ACS的可能性是TT型的40.2%。结论 MTHFR基因多态性与河南中部地区汉族人群ACS发生有关,其中C677T位点突变可能是ACS发生的影响因素,而A1298C位点基因多态性与ACS发生的关联性较低。  相似文献   

4.
目的探讨甲烯四氢叶酸还原酶(MTHFR)基因C677T位碱基突变与2型糖尿病患者同型半胱氨酸(Hcy)水平和糖尿病大血管病变的关系。方法将患者分为对照组、糖尿病颈动脉内中膜厚度(IMT)正常组、糖尿病IMT增厚组。应用酶联免疫法测定Hcy水平,采用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测MTHFRC677T基因型,用高分辨彩色多普勒检查颈动脉内中膜厚度(IMT)。结果糖尿病IMT增厚组MTHFR基因的TT基因型和T等位基因频率显著增高,与糖尿病IMT正常组及对照组存在统计学差异(P<0.05)。对照组与糖尿病IMT正常组之间T等位基因频率无统计学差异。MTHFR基因突变者血浆Hcy增高。糖尿病组MTHFR基因突变者IMT值明显高于无基因突变者。结论糖尿病IMT增厚组T等位基因频率增高。MTHFR基因C677T点突变组血浆Hcy水平升高,颈动脉IMT增厚。推测MTHFR基因C677T点突变可能是糖尿病合并大血管病变发病的重要遗传因素。  相似文献   

5.
目的探讨长治地区健康老年人群血浆同型半胱氨酸(HCY)水平与N5,N10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因位点的基因多态性。方法采用酶联免疫吸附法进行血浆HCY水平测定;采用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)对MTHFR C677T进行基因多态性分析。结果长治地区健康老年人群血浆HCY水平为(11.0±3.1)μmol/L,与健康青年人群相比,无统计学差异(P0.05)。老年人群中MTHFR C677T基因的CC、CT和TT基因型频率分别为15.38%、48.72%和35.90%,与青年人群相比,两者差异无统计学性(P0.05);老年人群C、T等位基因频率分别为39.74%和60.26%,与青年人群相比,两者差异无统计学意义(P0.05)。MTHFR C677T基因型频率在长治地区健康老年人群、青年人群中均符合Hardy-Weinberg平衡。健康老年人群MTHFR C677T位点各基因型间,血浆HCY水平亦无显著差异。健康老年人群、青年人群TT基因型血浆HCY水平差异显著(P0.05)。结论长治人群MTHFR C677T纯合突变基因型频率高,且老年人群TT基因型血浆HCY水平显著高于青年人群。  相似文献   

6.
目的探讨黑龙江地区汉族人群亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C基因多态性分布与肺癌易感性的关系。方法纳入225例肺癌患者作为实验组,以门诊体检健康人群为对照组,采用Sanger双脱氧链终止法检测目标人群MTHFR基因C677T、A1298C的基因型。结果实验组MTHFR基因C677T突变纯合型(TT)分布频率显著高于对照组(23.1%vs 10.7%,P0.05),携带TT基因型患肺癌的风险比值比为2.517,95%CI为1.490-4.254;MTHFR A1298C各基因型分布频率实验组与对照组之间比较差异无统计学意义(P0.05)。结论 MTHFR基因C677T突变纯合型(TT)与肺癌易感性明显相关,未发现A1298C与肺癌发生相关。  相似文献   

7.
目的研究N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性、血浆同型半胱氨酸(Hcy)与冠心病的关系。方法选取2013年至2015年在我院住院的冠心病患者256例,按年龄分为60岁组(中青年组)107例及≥60岁组(老年组)149例,选取同期行健康体检的人群145例作为对照组,应用聚合酶链反应(PCR)技术和基因芯片分析技术检测MTHFR基因C677T多态性,应用高效液相色谱法测定血浆Hcy水平,分析不同组群之间MTHFR基因C677T多态性的分布及Hcy水平。结果 MTHFR基因分布频率:中青年组CC型、CT型、TT型基因频率分别为26.2%,43.9%,29.9%,C等位基因频率为48.1%,T等位基因频率为51.9%。中青年组CC型、CT型、TT型基因频率分别为35.6%,42.3%,22.1%,C等位基因频率为56.8%,T等位基因频率为43.2%。对照组CC型、CT型、TT型基因频率分别为37.9%,40.1%,21.4%,C等位基因频率为58.3%,T等位基因频率为41.7%。中青年组T等位基因频率明显高于对照组(χ~2=5.10,P=0.015),中青年组Hcy浓度明显高于对照组。老年组T等位基因频率与对照组比较差异无显著性(χ~2=0.147,P=0.382),两组间Hcy浓度差异无显著性。各组的TT基因型者血浆Hcy浓度均明显高于CC和TC基因型者(P0.01),而后两者间差异无显著性。结论 MTHFR基因TT型可导致Hcy水平明显升高,MTHFR基因C677T点突变仅与中青年组冠心病患者相关,与老年组冠心病患者无明显相关,Hcy水平升高及MTHFR基因T等位基因频率增高可能为中青年冠心病患者的危险因素,提示不同年龄阶段的冠心病患者发病的机制可能存在差异。  相似文献   

8.
目的探讨N5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点、内皮型一氧化氮合酶(eNOS)基因G894T位点与2型糖尿病合并脑梗塞的关系。方法采用Sequenom系统检测内蒙古地区汉族健康对照组65人、2型糖尿病患者34例、2型糖尿病合并脑梗塞患者42例的MTHFR、eNOS基因型。结果(1)eNOS基因G894T位点2型糖尿病合并脑梗组TT基因型频率、T等位基因频率与对照组比较差异有显著性(P〈0.01,P〈0.01);2型糖尿病合并脑梗组T等位基因频率与糖尿病组比较差异有显著性(P〈0.05),(2)MTHFR基因C677T位点的TT基因型与eNOS基因G894T位点的TT基因型在2型糖尿病人群患脑梗塞方面具有协同作用(P〈0.05)。结论MTHFR基因C677T位点和eNOS基因G894T位点变异增加糖尿病患者发生脑梗的危险性,可能是糖尿病患者发生脑梗塞的遗传易感基因。  相似文献   

9.
目的:探讨同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与新疆哈萨克族原发性高血压的关系。方法:选取新疆哈萨克族高血压病患者189例(高血压病组),血压正常者165例(对照组),应用聚合酶链反应-限制性片段长度多态性方法检测MTHFR C677T的基因型,采用酶标免疫吸附检测法检测血浆Hcy水平。结果:高血压病组血浆Hcy水平高于对照组(P<0.05)。高血压病组中,男性血浆Hcy水平高于女性(P<0.05)。2组MTHFR C677T多态位点的基因型和等位基因的频率分布均差异无统计学意义;MTHFR C677T3种基因型的血浆Hcy水平也均差异无统计学意义。Logistic回归分析结果显示,BMI和血浆Hcy水平是新疆哈萨克族高血压病的独立危险因素,而年龄、性别、吸烟史、饮酒史及MTHFR C677T位点多态性不是新疆哈萨克族高血压病的独立危险因素。结论:Hcy是新疆哈萨克族原发性高血压的危险因素,但MTHFR C677T位点突变可能不是影响血浆Hcy水平的重要遗传因素。  相似文献   

10.
目的 探讨内皮型一氧化氮合酶(eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与苏皖地区汉族人群早发冠心病(PCAD)发病的关系.方法 采用病例对照研究的方法,应用聚合酶链反应-限制性片长多态性(PCR-RFLP)技术,分别检测131例PCAD患者(PCAD组)和131例年龄、性别相匹配的无冠心病者(对照组)的eNOS和MTHFR基因的单核苷酸多态性,判定其基因型并统计各基因型及等位基因的频率.结果 eNOS基因G894T多态性在PCAD组和对照组中的基因型分布(x2=2.072,P=0.355)和T等位基因频率(x2=0.727,P=0.394)差异均无统计学意义.MTHFR基因C677T基因型在PCAD组CT和TT型分布均高于对照组(x2 =14.290,P=0.001),T等位基因频率亦高于对照组(x2=16.339,P =0.000),差异有显著性(P<0.05).Logistic回归分析显示,携带MTHFR基因C677TTT基因型是PCAD发病的独立危险因素.结论 eNOS基因G894T多态性可能与苏皖地区汉族人群PCAD发病无关;MTHFR基因677C/T多态性的TT基因型可能增加苏皖地区汉族人群PCAD的患病风险,T等位基因可能是PCAD的遗传易感基因.  相似文献   

11.
目的研究亚甲基四氢叶酸还原酶基因C677T多态性与原发性高血压及动脉顺应性的关系。方法对695例原发性高血压患者和509例年龄匹配的正常对照者采用聚合酶链反应和限制片长多态性分析方法进行基因多态性分析,电泳判断基因型及测序,并测定颈动脉—桡动脉脉搏波速度和颈动脉—股动脉脉搏波速度。结果高血压组TT基因型频率和T等位基因频率显著高于正常对照组(26.5%比20.6%及48.7%比42.4%,P=0.015和0.002)。T等位基因携带者的颈动脉—股动脉脉搏波速度显著高于CC基因型者(P<0.05),高血压组颈动脉—桡动脉脉搏波速度在T等位基因携带者也显著高于CC基因型者(P=0.001)。携带T等位基因的高血压患者颈动脉—股动脉脉搏波速度及非单纯收缩期高血压患者颈动脉—桡动脉脉搏波速度均显著高于CC基因型者(P<0.05)。结论亚甲基四氢叶酸还原酶基因C677T多态性可能与原发性高血压发病危险性增加有关,并且677T等位基因可能是高血压动脉硬化的遗传因素。  相似文献   

12.
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。  相似文献   

13.
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.  相似文献   

14.
Hyperhomocyst(e)inemia is a known risk factor for the development of atherosclerotic vascular damage. Plasma homocyst(e)ine levels are influenced by nutritional and hereditary factors. A point mutation (cytosine to thymidine substitution; C677T) in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) makes the enzyme thermolabile and has been associated with elevated homocyst(e)ine levels in homozygous carriers (TT genotypes). We evaluated the relationship between the T allele encoding for the thermolabile variant of MTHFR and several biochemical risk factors and early signs of hypertensive and atherosclerotic organ damage in 206 untreated patients with primary hypertension. The MTHFR genotype was evaluated by polymerase chain reaction. Albuminuria was measured as albumin-to-creatinine ratio in three nonconsecutive first morning urine samples (negative urine culture). Persistent Mi (Alb+) was defined as an average albumin-to-creatinine ratio between 2.38 and 19 (men) and 2.96 and 20 (women). Left ventricular (LV) mass index (LVMI) was assessed by M-B mode echocardiography (LV hypertrophy, LVH = LVMI ≥125g/m2), carotid geometry by high-resolution ultrasound scan, and retinal vascular changes by direct ophthalmoscopy (Keith-Wagener classification). The prevalence of Mi, LVH, and retinopathy was 14%, 45%, and 42%, respectively. The prevalence of carotid plaque was 25%. Allele frequencies for C (wild-type allele) and T allele (mutant allele) were 56% and 44%, respectively. Genotype frequencies were CC 29%, CT 54%, TT 17% according to Hardy Weinberg equilibrium. There were no differences as for age, sex, body mass index, blood pressure levels, lipid profile, smoking habits, and alcohol intake, and LVMI and urinary albumin excretion on the basis of MTHFR genotype. Patients with TT polymorphism showed a higher prevalence of retinal vascular changes (TT, 61% v CT + CC, 38%; P < .02) and carotid plaque (TT, 42% v CT + CC, 21%; P < .05) compared to patients with CC and CT polymorphism. Moreover, patients with T allele showed increased carotid artery size as demonstrated by intima plus media thickness (TT, 0.79 ± 0.05 mm v CT + CC, 0.67 ± 0.02 mm; P < .02), relative wall thickness (TT, 0.23 ± 0.01 mm v CT + CC, 0.20 ± 0.005 mm; P < .02), and surface area (TT, 19 ± 1.9 mm2 v CT + CC, 15 ± 0.55 mm2; P < .05). Multiple linear regression analysis demonstrated that MTHFR genotype and systolic blood pressure independently influence intima-media thickness and together account for about 11% of its variations (r2 = 0.11, F = 9.7, dF = 1–205, P < .0001). Homozygosity for the T allele of the MTHFR gene is an independent risk factor for the development of early atherosclerotic organ damage in hypertensive patients.  相似文献   

15.
2型糖尿病肾病亚甲基四氢叶酸还原酶基因多态性研究   总被引:4,自引:1,他引:3  
目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate  相似文献   

16.
目的基质金属蛋白酶(MMP)-9是一种基质降解酶,可能参与了血管的重构。本研究旨在探讨MMP-9基因C-1562T多态性与高血压及性别的相关性。方法采用聚合酶链反应结合限制性内切酶片段长度多态性分析,分别检测北京宣武医院门诊807例原发性高血压患者和同一地区509例正常对照的MMP-9基因C-1562T多态性。电泳判断基因型并测序。结果高血压组TT+CT基因型频率和T等位基因频率显著高于正常对照组(28.7%vs22.6%,15.4%vs12.7%;P〈0.05)。女性中高血压组的TT+CT基因型频率和T等位基因频率显著高于正常对照组(31.0%vs22.0%,16.6%vs12.1%;P〈0.05),T等位基因对高血压的OR值为1.442(CI:1.057~1.968)。男性中两组基因型无显著差别。老年女性高血压组的TT+CT基因型频率和T等位基因频率显著高于老年男性高血压组、老年女性正常对照组和非老年女性高血压组。结论MMP9基因-1562T等位基因可能是老年女性原发性高血压的危险因素。  相似文献   

17.
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.  相似文献   

18.
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.  相似文献   

19.
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与浙江某地区汉族人群2型糖尿病患者急性脑梗死的相关性.方法 选取2017年1月至2018年6月在台州市立医院住院患者、门诊及同期体检中心体检人群共396例,分为急性脑梗死合并2型糖尿病组(CIDM,125例)、单纯2型糖尿病组(DM,120例)和性别、年龄...  相似文献   

20.
亚甲基四氢叶酸还原酶基因多态性与心肌梗死的相关研究   总被引:7,自引:0,他引:7  
目的 了解亚甲基四氢叶酸还原酶基因C677T位点突变在中国人群中的频率及其与心肌梗死(心梗)是否相关。方法 选择153例住院心梗患及156例住院的非心血管病患作为对照,抽取外周静脉血提取DNA,同时所有研究对象记录其病史,体检等稞资料及吸烟,饮酒等流行病学资料,应用PCR-RFLP进行基因型分析。  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号