2型糖尿病合并脑梗塞患者的MTHFR基因、eNOS基因多态性位点的联合研究

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。     

新疆汉族冠心病患者内皮型一氧化氮合酶基因G894T多态性

目的 探讨新疆汉族人群内皮型一氧化氮合酶(eNOS)基因多态性与冠心病的相关性.方法 应用聚合酶链反应(PCR)-限制性片段长度多态性分析(PCR-RFLP),检测新疆汉族82例正常个体和42例冠心病患者eNOS基因G894T多态性.结果 新疆汉族正常个体及冠心病患者的eNOS基因G894T多态性GG、GT、TT基因型频率分布分别为0.84、0.12、0.04和0.76、0.14、0.10,G和T等位基因分布频率分别为0.90、0.10和0.83、0.17,冠心病患者有GT基因型频率下降,TT基因型频率升高趋势,但差异不显著(x2=1.532 8,P＞0.05).结论 eNOS基因G894T多态性,可能与新疆汉族冠心病有关.     

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.     

新疆哈萨克族原发性高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性.方法应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性.结果哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0.74,0.24,0.02和0.81,0.18,0.01,G和T等位基因分布频率分别为0.86,0.14和0.90,0.10,符合Hardy-Weinberg平衡.群体相关分析结果表明eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(x2=3.580,P=0.058);基因型频率之间差异无显著性(x2=4.073,P=0.133).然而男性EH组G等位基因频率(0.90)高于NT组(0.86);T等位基因频率(0.06)低于NT组(0.14).结论eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关.     

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。     

长治老年人群血浆同型半胱氨酸水平与MTHFRC677T基因多态性

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。     

MTHFR基因多态性与河南中部地区汉族人群急性冠脉综合征发生的关联性研究

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。     

N5，N10-亚甲基四氢叶酸还原酶基因多态性及血浆同型半胱氨酸与冠心病的关系

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。     

新疆哈萨克族高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性.方法应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性.结果哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0.74,0.24,0.02和0.81,0.18,0.01,G和T等位基因分布频率分别为0.86,0.14和0.90,0.10,符合Hardy-Weinberg平衡.群体相关分析结果表明eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(χ2=3.580,P=0.058);基因型频率之间差异无显著性(χ2=4.037,P=0.133).然而男性EH组G等位基因频率(0.90)高于NT组(0.86);T等位基因频率(0.06)低于NT组(0.14).结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关.     

蒙族高血压患者内皮型一氧化氮合酶(eNOS)基因多态性研究

目的旨在探讨一氧化氮合酶(eNOS)基因(G894T、T786C)多态性与中国蒙古族高血压患者的相关性。方法采用聚合酶链反应和限制性酶切的片段长度多态分析方法检测蒙族高血压患者100例和健康人50例的一氧化氮合酶(eNOS)基因(G894T、T786C)多态性。结果一氧化氮合酶基因T894G(GT、TT)、T786C(CT、CC)基因型及T、C等位基因频率在高血压组显著高于对照组(P <0．05)。同时具有eNOS894TT、786CC和894TG、786TC基因型者高血压组比对照组多,差异有显著性(P<0．05)。结论一氧化氮合酶基因T894G、T786C基因多态性与蒙族高血压相关,但尚需在更大的人群中进一步验证。     

亚甲基四氢叶酸还原酶基因C677T多态性与原发性高血压患者动脉顺应性的关系

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。     

新疆汉族和哈萨克族人群内皮型一氧化氮合酶基因T786C和G894T多态性与原发性高血压的相关分析

目的探讨新疆汉族和哈萨克族内皮型一氧化氮合酶基因G894T、T786C多态性与原发性高血压的相关性。方法选取新疆塔城地区哈萨克族高血压患者363人和正常血压者370人,选取汉族高血压患者346人,正常血压者385人,运用多重单碱基延伸分型技术进行内皮型一氧化氮合酶基因G894T、T786C多态性分析,阐明两民族基因型、等位基因频率分布、连锁不平衡模式及构建的单体型与原发性高血压的相关性。结果超重、肥胖、甘油三酯异常及年龄51岁以上是两民族患高血压的共同相关危险因素。总人群、原发性高血压组及正常血压组中两民族内皮型一氧化氮合酶基因G894T、T786C位点等位基因频率分布差异均有统计学意义(P<0.05),两位点间不存在强连锁不平衡。汉族和哈萨克族人群内皮型一氧化氮合酶基因两位点共构成4种单体型:GT(75.3%和79.6%)、GC(10.8%和10.5%)、TT(5.7%和9.8%)及TC(8.2%和0.1%)。两民族单体型频率分布最高为GT,汉族和哈萨克族人群单体型频率分布最低分别是TC、TT,且两民族间单体型GT、TT、TC频率分布差异有统计学意义(P<0.05)。结论新疆汉族和哈萨克族人群内皮型一氧化氮合酶基因G894T、T786C位点多态可能与原发性高血压不相关。     

Endothelial nitric oxide synthase and methylenetetrahydrofolate reductase gene polymorphisms are associated with endothelial dysfunction in young, healthy men

BACKGROUND: The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glutamate to aspartate [Asp] at codon 298 [Asp298]) and the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) have been reported to be associated with atherosclerosis and cardiovascular disease. Endothelial dysfunction is considered to be the earliest stage of atherosclerosis. OBJECTIVES: To examine whether common eNOS and MTHFR gene polymorphisms are associated with endothelial dysfunction in young, healthy men without overt cardiovascular disease. SUBJECTS AND METHODS: Flow-mediated, endothelium-dependent vasodilation (FMD) and glyceryl trinitrate-induced, endothelium-independent vasodilation (GTN) were measured using high-resolution ultrasound of the brachial artery in 53 young, healthy men assigned to eNOS and MTHFR genotypes. RESULTS: Subjects with the eNOS Asp298 allele (n=15) showed significantly reduced FMD:GTN compared with those without this allele (n=38) (0.23+/-0.13 [mean +/- SD] versus 0.35+/-0.14, P=0.0072), whereas there was no significant difference in GTN between these two groups. Although subjects with the MTHFR T677 allele did not show significantly reduced levels of FMD:GTN, subjects with the eNOS Asp298 allele and who were carriers of the MTHFR T677 allele demonstrated markedly reduced levels of FMD:GTN compared with noncarriers (0.14+/-0.05 versus 0.28+/-0.13, P=0.04). CONCLUSIONS: The data suggest that even in young men, the eNOS Asp298 allele may be involved in endothelial dysfunction before any overt vascular disease has occurred. Furthermore, a combination of the eNOS Asp298 and MTHFR T677 alleles may exaggerate endothelial dysfunction and may contribute to a comparatively earlier development of atherosclerosis.     

The 5,10-methylenetetrahydrofolate reductase C677T polymorphism interacts with smoking to increase homocysteine

Elevated homocysteine is a risk marker for several human pathologies. Risk factors for elevated homocysteine include low folate and homozygosity for the T allele of the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. Because nitric oxide may inhibit folate catabolism and endothelial nitric oxide synthase activity is reduced in smokers, we postulated that smoking status might modify the impact of the MTHFR C677T polymorphism on homocysteine (tHcy) concentrations. We tested this hypothesis in a healthy young adult population for which MTHFR C677T genotypes and tHcy concentrations were previously reported. The MTHFR 677TT genotype was significantly associated with elevated tHcy concentrations in smokers (P = 0.001) but not in non-smokers (P = 0.36). Among smokers, the MTHFR 677TT genotype was significantly associated with high tHcy in heavy smokers (P = 0.003) but not light smokers (P = 0.09), in men (P = 0.003) but not women (P = 0.11), and in subjects from the lowest serum folate quartile (P = 0.49) but not from folate quartiles 2-4 (P = 0.49). After adjustment for nutritional variables, interactions between MTHFR C677T genotype and NOS3 G894T genotype, and between MTHFR genotype, smoking status and gender were statistically significant. We propose that hyperhomocysteinemia in MTHFR 677TT homozygote smokers is the consequence of mild intracellular folate deficiency caused by a smoking-related reduction of NOS3 activity that is exacerbated when serum folate is low.     

Methylenetetrahydrofolate reductase C677T gene polymorphism and coronary artery disease in a Chinese Han population: a meta-analysis

Methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been suggested to be associated with increased coronary artery disease (CAD) risk. To explore the relationship between MTHFR C677T gene polymorphism and CAD in the Chinese Han population, a meta-analysis was performed. Fourteen separate studies were included and 2981 subjects were involved in the current meta-analysis. The pooled odds ratio (OR) between CAD size to CAD size and control size (CAD/CAD + control) and the corresponding 95% confidence interval (95% CI) between the CC and TT genotype groups were estimated by a random-effects model. Meta-regression was performed to explore the heterogeneity source. The CAD/CAD + control values were 0.45 for the CC genotype group and 0.62 for the TT genotype group. The pooled OR for the CAD/CAD + control between the CC and TT genotype groups was 0.55 (95% CI, 0.37-0.83; P(heterogeneity) = .0004, I(2) = 64.7%). These results indicated that MTHFR C677T gene polymorphism and CAD were significantly associated (P = .005) in the Chinese Han population. Publication year was detected as the main heterogeneity source. In a stratified analysis by publication year, the pooled OR was 0.76 (95% CI, 0.37-1.57; P(heterogeneity) = .0002; I(2) = 79.6%) in subgroup 1 (publication years 1999-2004). No significant association between gene polymorphism and CAD was found in this subgroup (P = .46). In subgroup 2 (publication years 2005-2011), the pooled OR was 0.39 (95% CI, 0.28-0.55; P(heterogeneity) = .53; I(2) = 0); and the association between gene polymorphism and CAD was significant (P < .00001). In the Chinese Han population, the TT genotype for the MTHFR C677T gene appeared to be associated with increased CAD risk.     

MTHFR C677T基因多态性与新疆哈族和汉族食管癌易感性的关系

目的:探讨亚甲基四氢叶酸还原酶(MTHFR) 基因C677T多态性与新疆哈族、汉族食管癌易感性的关系．方法:用PCR-RFLP方法检测食管癌患者178 例(哈萨克族94例,汉族84例)和同一地区无肿瘤病史的正常对照者155例(哈萨克族98例,汉族57例)的MTHFR基因C677T基因型分布．结果:新疆哈族食管癌组中MTHFR C677T 3种基因型CC,CT,TT,所占比例分别是 56．4％,36．2％,7．4％,与新疆汉族食管癌组中的32．9％,40．0％,27．1％相比,存在显著差异(X2=1 5．37,P<0．05);哈族正常对照组分别为58．2％,29．6％,12．2％与汉族正常对照组 22．8％,52．6％,24．6％相比,有显著差异(X2= 18．26,P<0．05)．MTHFR 3种基因型在哈族食管癌组中的分布(CC 56．4％,CT 36．2％and TT 7．4％)与对照组中(CC 22．8％,CT 52．6％and TT 24．6％)相比,无显著差异(X2=1．776,P= 0．412)．在汉族食管癌组与对照组间也无显著差异(X2=2．750,P=0．253)．结论:MTHFR C677T基因多态性分布在新疆哈族、汉族正常对照组间存在民族差异,在食管癌间也存在差异．MTHFR C677T基因多态性可能与新疆哈萨克族与汉族食管癌的易感性无关．     

Influence of eNOS gene polymorphisms (894G/T; - 786C/T) on postoperative hemodynamics after cardiac surgery

BACKGROUND: Differences in vascular reactivity have been associated with variable NO release due to 894G/T and -786C/T polymorphisms of the eNOS gene. Carriers of the 894T and -786C alleles are known to have enhanced vascular responsiveness to vasoconstrictor stimulation due to decreased NO generation. Thus, we hypothesized that eNOS gene polymorphism could influence perioperative hemodynamics and catecholamine support in patients undergoing cardiac surgery with CPB. METHODS: In 105 patients undergoing elective CABG with CPB, systemic hemodynamics, cardiac index (CI), systemic and pulmonary vascular resistance indices (SVRI, PVRI) and catecholamine support were measured at baseline and 1 h, 4 h, 10 h and 24 h after CPB. Genotyping for the 894G/T and -786C/T eNOS gene polymorphisms was performed by polymerase chain reaction amplification. Patients were divided according to their genotype (894G/T: GG=group 1, GT and TT=group 2; -786C/T: TT=group 3, CT and CC=group 4). RESULTS: Genotype distribution for 894G/T polymorphism was 41% (GG), 52.4% (GT), 6.6% (TT) and for -786C/T polymorphism 37.1% (TT), 41.9% (CT) and 21% (CC). Pre- and intraoperative characteristics and systemic hemodynamics did not differ between groups. CI, SVRI and PVRI remained unaffected by genotype distribution. Statistical analysis of postoperative data revealed no difference between groups, especially for pharmacologic inotropic or vasopressor support. Also, coexistence of the 894T and -786C alleles had no impact on perioperative variables compared to homozygous 894G and -786T allele carriers. CONCLUSIONS: In contrast to current suggestions, the 894G/T and -786C/T genetic polymorphisms of the eNOS gene do not influence early perioperative hemodynamics after cardiac surgery with CPB.     

内皮型一氧化氮合酶基因G894T多态性与东乡族原发性高血压的相关性

目的探讨东乡族人内皮型一氧化氮合酶（eNOS）基因G894T多态性与原发性高血压（EH）之间的相关性。方法应用聚合酶链反应—限制性内切酶片段长度多态分析法对甘肃临夏东乡族EH患者（EH组）和正常人群（NT组）的eNOS第7外显子894位处进行基因多态性分型,应用硝酸盐还原酶法方法检测血清一氧化氮代谢物（NOM）水平。结果eNOS基因G894T多态性符合Hardy-Weinberg平衡定律,EH组GT＋TT基因型和T等位基因频率均高于NT组（P〈0.05,〈0.01）;EH组中T等位基因携带者的收缩压、舒张压和平均动脉压均高于对应的GG基因型携带者（P〈0.05）。EH组GT＋TT基因型空腹血清NOM低于GG基因型（P〈0.05）。结论eNOS基因第7外显子G894T多态性的T等位基因与东乡族EH的发生相关联,T等位基因（298Glu→Asp）可能通过影响对应编码的eNOS活性而使T等位基因携带者NOM减少,进而参与EH发病。     

亚甲基四氢叶酸还原酶基因677和1298位点多态性与溃疡性结肠炎的相关性

目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点多态性与浙江汉族人群溃疡性结肠炎(UC)的关系.方法 采用限制性片段长度多态性PCR(PCR-RELP)法,在274例UC患者和726例正常对照者中检测MTHFR C677T及A1298C基因多态性分布差异.结果 UC患者中,MTHFR C677T突变等位基因(T)和基因型(CT+TT)频率与正常对照组相比差异无统计学意义(P＞0.05);而MTHFR A1298C突变等位基因(C)和基因型(AC+CC)频率均高于正常对照组(35.77%比29.96%,P=0.013;52.19%比44.90%,P=0.039).另外,MTHFR 677纯合子突变基因型(TT)、突变等位基因(T)以及677CT/1298AC复合基因型频率在广泛性结肠炎患者中明显高于远端结肠炎(37.66%比14.72%,P=0.0002;49.35%比32.99%,P=0.0004;29.87%比15.23%,P=0.006);重度UC患者的MTHFR 1298位点突变等位基因(C)频率显著低于(轻+中)度患者(18.97%比33.88%,P=0.022).结论 MTHFR C677T及A1298C基因多态性与浙江汉族UC明显相关.

Abstract：

Objective To investigate the association between the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and ulcerative colitis (UC) of Han ethnic population in Zhejiang, China. Methods Two hundred and seventy-four consecutive patients with UC and 726 healthy controls (HC) were studied. The genetic polymorphisms of MTHFR (C677T and A1298C) were genotyped using PCR-RELP methods. Results The frequencies of variant allele and genotype in MTHFR A1298Cgene were higher in UC patients than in the HC (35.77% vs 29. 96%, P =0. 013; 52. 19% vs 44. 90%,P=0.039; respectively). However, there were no significant discrepancies of the allele and genotype frequencies in the MTHFR C677T gene between the UC patients and the HC (P ＞ 0. 05 ). In addition, the MTHFR 677Tr homozygote, T allele and 677CT/1298AC compound genotype were more prevalent in patients with extensive colitis than in those with distal colitis (37. 66% vs 14. 72% ,P = 0. 0002; 49. 35% vs 32.99% ,P =0. 0004; 29. 87% vs 15.23% ,P =0. 006; respectively). Furthermore,the variant allele in the MTHFR A1298C gene (C) in severe UC patients was significantly lower than in mild and moderate UC patients (18.97% vs 33. 88% ,P =0. 022). Conclusion The genetic polymorphisms of MTHFR C677T and A1298C are obviously associated with Han ethnic population with UC in Zhejiang province.     

Interaction of G-protein beta3 subunit and nitric oxide synthase gene polymorphisms on carotid artery intima-media thickness in young adults: the Bogalusa Heart Study

BACKGROUND: G-protein beta3 subunit (GNB3) gene C825T and endothelial nitric oxide (eNOS) gene G894T polymorphisms both influence arterial structure and function. However, information is scant regarding the interaction of these genes on arterial wall thickness. METHODS: This aspect was examined in 654 white and black subjects, aged 25-43 years (72.9% white, 39.3% male). Arterial wall thickness was assessed in terms of the average intima-media thickness (IMT) of common carotid, internal carotid, and carotid bulb segments by B-mode ultrasonography. RESULTS: Frequencies of T allele of the GNB3 C825T polymorphism (0.718 vs. 0.304, P < 0.0001) and G allele of the eNOS G894T polymorphism (0.868 vs. 0.661, P < 0.0001) were higher in blacks compared to whites. In a multivariate model including gender, age, mean arterial pressure, body mass index, triglycerides/HDL cholesterol ratio, insulin resistance index, smoking, and/or race, there was no significant genotypic effect on carotid IMT with respect to GNB3 C825T or eNOS G894T polymorphisms among whites, blacks, and total sample. However, the carriers of TT genotype of the GNB3 C825T and T allele of the eNOS G894T had a significantly lower carotid IMT among blacks (P = 0.003) and the total sample (P = 0.006). CONCLUSION: These results indicate that the genetic variations of the eNOS gene in combination with the GNB3 gene jointly influence carotid artery wall thickening process in young adults, especially in blacks.