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1.
目的研究内皮型一氧化氮合酶(eNOS)Glu298Asp基因多态性与老年原发性高血压(EH)微量白蛋白尿(MAU)的关系。方法从到医院就诊的老年EH患者中筛选出202例无显性蛋白尿的患者,行24h MAU测定,并应用基因芯片技术检测eNOS Glu298Asp基因多态性,按照24hMAU定量分为MAU组和非MAU组(NAU组),比较两组基因型和等位基因分布差异。结果两组等位基因和基因型的分布不同,MAU组等位基因T及含等位基因T的基因型(GT+TT)分布频率明显升高(χ^2=6.62,P〈0.01;χ^2=7.29,P〈0.01);T等位基因变异使老年EH患者MAU的相对危险度显著增高(OR=2.361,95%CI=1.256~4.437)。结论 T等位基因是老年EH患者MAU的易感基因,携带T等位基因导致老年EH患者出现MAU的风险显著增高。  相似文献   

2.
目的建立中国汉族人群BET基因位于exon2(密码子45)、exon13(密码子769)、exon11(密码子691)和exon15(密码子904)的基因多态性的基因型和等位基因频率的分布背景,探讨其基因多态性与先天性巨结肠的关系。方法应用PCR-RFLP在中国湖北地区汉族人群中检测正常对照组(122例)及散发性先天性巨结肠组(HD组,94例)G45A(GCG→GCA)、T769G(CTT→CTG)、G691A(GGT→AGT)和C904G(TCC→TCG)的单核苷酸多态性(single nucleotide polymorphisms,SNPs)。结果G45A、T769G和G691A在对照组中均存在多态性,但未发现C904G存在基因多态性。均为CC型。G45A在对照组中的基因型频率分别为AA 0.17、AG 0.72和GG 0.11,突变型A和野生型G等位基因的频率为0.53和0.47;而G45A在HD组则分别为从0.61、AG 0.35和GG 0.04,突变型A和野生型G等位基因的频率为0.78和0.22。T769G在对照组中基因型频率分布分别为GG 0.30、GT 0.52和TT 0.18,G和T等位基因的频率为0.56和0.44;而T769G在HD组则分别为GG 0.49、GT 0.36和TT 0.15,突变型G和野生型T等位基因的频率为0.67和0.33。两组间的两个位点的基因型和等位基因的分布频率差异均有统计学意义(x^2=28.64,P〈0.001;x^2=5.27,P=0.022)。G691A在对照组中基因型频率分别为AA 0.05、AG 0.16和GG 0.79,突变型A和野生型G等位基因的频率为0.13和0.87;而在HD组则分别为AA 0.02、AG 0.14和GG 0.84,突变型A和野生型G等位基因的频率为0.09和0.91,两组间比较差异无统计学意义(x^2=1.232,P=0.267)。结论在中国湖北地区汉族人群中,RET密码子904可能不存在基因多态性,未发现G691A与先天性巨结肠存在相关性,而G45A和T769G的基因多态性可能与中国湖北地区汉族人群先天性巨结肠相关。  相似文献   

3.
目的探讨血清内脏脂肪素(visfatin)与糖尿病肾脏病患者高敏C反应蛋白(hsCRP)及尿白蛋白排泄率(UAER)的关系。方法将90例2型糖尿病(T2DM)患者分为单纯T2DM组(A组)46例,糖尿病肾脏病(DKD)组(B组)44例;另设50例健康体检者为正常对照组(C组)。测定身高、体重、腰围(WC)、血压(BP),计算体重指数(BMI)。检测3组血清visfatin、hsCRP及血糖、血脂、肾功能等各项生化指标。血清visfatin与hsCRP、UAER行相关性分析。结果A、B组血清visfatin水平和hsCRP均明显高于C组(P〈0.01)。B组中血清visfatin水平和hsCRP均明显高于A组(P〈0.05,P〈0.01)。相关性分析中,B组血清visfatin水平与UAER呈正相关(r=0.479,P〈0.01),与hsCRP亦呈正相关(r=0.376,P〈0.05)。结论血清visfatin与DKD的炎症状态以及尿白蛋白排泄有关,可能在其发病机制中发挥一定作用。  相似文献   

4.
目的研究长春市汉族人群Ⅰ型胶原α1链基因(COL1A1)启动子区-1997G/T、+1245G/T多态性及其与骨质疏松的关系。方法 (1)抽取受试人群外周静脉血5 ml,提取血清DNA。(2)应用实时荧光定量PCR仪扩增目的基因的DNA片段。(3)采用TaqMan探针法对-1997G/T及+1245G/T位点进行等位基因鉴别。(4)应用双能X线骨密度仪测定骨密度(BMD),将374例受试人群分为骨密度正常、骨质疏松、骨质疏松性骨折3组。结果长春市汉族正常人群COL1A1-1997G/T转换中,GG基因型占38.40%,GT基因型占46.38%,TT基因型占15.22%,以GT基因型为主;骨质疏松患者女性GG等位基因型所占比例大于男性,GG基因型占44.39%,GT基因型占43.37%,TT基因型占12.24%;骨质疏松骨折患者GG基因型为主,占47.50%,GT基因型占35.00%,TT基因型占17.50%。骨质疏松组女性GG基因型BMD低于GT、TT基因型,但差异无统计学意义(P均0.05);骨质疏松骨折组女性GG基因型BMD显著低于GT、TT基因型(P均0.05)。COL1A1+1245位点G/T转换,在正常人群中发现GT杂合型2例,占总数的0.53%,其余均为GG基因型。结论 COL1A1-1997G/T转换中正常人群以GT基因型为主,骨质疏松患者和骨质疏松骨折患者以GG基因型为主。骨质疏松患者和骨质疏松性骨折患者女性GG基因型BMD均低于GT、TT基因型。COL1A1-1997G/T与BMD显著相关,+1245G/T与BMD无相关性。  相似文献   

5.
目的 探讨2型糖尿病(T2DM)患者经颅多普勒改变(TCD)与尿微量白蛋白(UAlb)及血浆内皮素(ET)的关系。方法 根据尿白蛋白排泄率(UAER)将T2DM患者50例分为正常白蛋白尿组(NA)、微量白蛋白尿组(MA)、临床白蛋白尿组(ODN)三组,健康志愿者21例为对照组(NC)。采用TCD检测颈内动脉(ICA)、大脑中动脉(MCA)、大脑前动脉(ACA)、大脑后动脉(PCA)、基底动脉(BA)收缩期峰血流速度(Vp)和脉动指数(PI),测定UAlb、血总胆固醇(TC)、甘油三酯(TG)、糖化血红蛋白和内皮素(ET)等。结果 T2DM各亚组间TG、UAlb、ET有显著性差异(P〈0.05)。除NA组ACA、PCA、BA外,T2DM各亚组受检动脉Vp值均明显高于NC组(P〈0.05或P〈0.01);T2DM各亚组间差异有显著性(P〈0.05)。除NA组PCA外,T2DM各亚组受检动脉PI值均明显高于NC组(P〈0.05或P〈0.01);T2DM各亚组间亦有显著性差异(P〈0.05)。多元逐步回归分析显示,T2DM患者脑血流动力学改变与UAlb、ET、TG呈正相关(β=0.326,P〈0.001;β=0.298,P〈0.001;β=0.157,P〈0.05)。结论 UAlb和ET参与了T2DM脑血流动力学改变的发生和发展。TCD有助于早期发现和防治T2DM脑血流动力学异常。  相似文献   

6.
目的探讨内皮型一氧化氮合酶(endothelial nitric oxide synthase, eNOS)基因第7外显子G894T点突变与肝硬化门脉高压症之间的关系.方法采用病例对照和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测106例乙型肝炎后肝硬化患者和108名健康对照者eNOS基因第7外显子G894T点突变频率和外周血NO-2/NO-3含量,比较各组间基因型频率与等位基因频率.结果①中国汉族正常人eNOS基因G894T突变GG、GT和TT基因型频率分别为86.1%、11.1%和2.8%;G、T等位基因频率分别为91.7%和8.3%.②乙型肝炎后肝硬化组GT+TT基因型频率高于对照组(24.5%比3.9%),差异有显著性.③门脉高压症组T等位基因频率明显高于对照组,差异有显著性(17.7%比8.3,P<0.05),相关分析呈正相关(r=0.2).携带T等位基因者发生门脉高压症的危险性高于非T等位基因携带者1.76倍(OR=2.76).结论 eNOS基因第7外显子G894T突变与肝硬化门脉高压症形成相关,T等位基因可能是中国人群门脉高压症的遗传易感基因型.  相似文献   

7.
目的研究NADPH氧化酶p22phox亚基基因多态性与中国上海汉族人群2型糖尿病肾病(DN)相关性。方法应用限制性片断长度多态性(RFLP)-PCR方法对105例健康对照组和194例2型糖尿病(DM)患者(其中71例DN)进行p22phox亚基C242T、A640G基因型检测。同时检测其身高、体重、血压、血脂、空腹血糖及胰岛素、HbAlc的水平。结果DN组CT+TT基因型频率明显高于2型DM和对照组(26.76%比17.07%、3.81%,P=0.0002);DN组T等位基因频率明显高于2型DM和对照组(22.54%比13.42%、2.86%,P=0.0001);3组间AA基因型频率与A等位基因频率差异无统计学意义。多元回归分析显示,T242等位基因、收缩压、空腹血糖、HbAlc、β细胞功能指数(Homa-IS)是DN的危险因素。结论p22phox亚基T242等位基因变异可能是中国上海地区汉族人群DN的易感基因:而p22phox亚基A640G基因多态性与上述人群DN无相关性。T242等位基因、收缩压、空腹血糖、HbAlc、Homa-IS是DN的危险因素。  相似文献   

8.
降钙素受体基因多态性与特发性高钙尿症的相关性研究   总被引:1,自引:0,他引:1  
目的了解降钙素受体(CTR)基因单核苷酸多态性与特发性高钙尿症的关系,探讨特发性高钙尿的发病机理。方法提取湖北地区76例汉族特发性高钙尿患者及126例健康对照者外周血标本基因组DNA,应用聚合酶链反应-限制性片段长度多态性方法检测并分析CTR基因核苷酸序列1377位点C/T单核苷酸多态性分布。结果2组标本CTR基因C/T多态性位点等位基因频率分布均符合Hardy-Weinberg定律,患者组CC、TC、TT基因型分布频率分别为73.7%、17.1%、9.2%,对照组分别为89.7%、9.5%、0.8%;2组等位基因c、T分布频率分别为84.2%、15.8%和94.4%、5.6%,患者组等位基因T和TT基因型分布频率高于对照组,而等位基因C和CC基因型的分布频率低于对照组,差异有统计学意义(P〈0.05)。结论CTR基因1377多态性位点C/T单核苷酸多态性在湖北地区汉族人群特发性高钙尿的发生中起重要作用。  相似文献   

9.
目的 探讨糖尿病肾脏疾病(diabetic kidney disease,DKD)患者血清三叶因子(trefoil factor 3,TFF3)水平的变化及其临床意义.方法 依据24 h尿白蛋白排泄率(urine albumin excretion rate,UAER)将123例2型糖尿病(type 2 diabetes mellitus,T2DM)患者分为3组:单纯糖尿病组(SDM组,UAER<30 mg/24 h)42例;早期糖尿病肾脏疾病组(EDKD组,UAER 30~300 mg/24 h)46例;临床糖尿病肾脏疾病组(CDKD 组,UAER>300 mg/24 h)35例.另选择健康体检者20名为对照组.用酶联免疫吸附测定(enzyme linked immunosorbent assay,ELISA)检测所有研究对象血清TFF3表达水平,并对相关临床资料进行统计学分析.结果 CDKD组的血清TFF3水平[(71.33±9.48)ng/ml]明显高于其他3组,EDKD组患者血清TFF3水平[(49.31±8.93)ng/ml]显著高于SDM组[(32.65±7.27)ng/ml],而对照组血清TFF3水平最低[(17.65±6.27)ng/ml],各组间比较有统计学差异(P<0.01).Pearson相关分析显示,T2DM患者血清TFF3水平与UAER呈正相关(r=0.897,P<0.05).结论 血清TFF3表达水平与DKD的发生、发展呈正相关,可作为预测及判断DKD严重程度的重要指标之一.  相似文献   

10.
目的探讨陕西地区汉族人群中,成纤维细胞生长因子23(FGF-23)基因多态性与糖尿病肾脏疾病(DKD)的关系。方法选择2016年1月至2018年1月于榆林市中医医院住院治疗的214例病程超过5年的2型糖尿病(type 2 diabetes mellitus,T2DM)患者作为T2DM组,根据是否合并DKD将T2DM患者分为DKD组和non-DKD组两个亚组,另选择同期于我院行健康体检的80例健康志愿者作为对照组。采用ELISA法检测所有入组人员血清FGF-23水平;采用聚合酶链反应-直接测序法检测FGF-23基因rs7955866、rs13312756、rs3812822位点多态性。结果 DKD组和non-DKD组血清FGF-23水平较对照组均显著增高,且DKD组显著高于non-DKD组(均P0.01)。T2DM组与对照组比较,两组在rs7955866、rs13312756、rs3812822位点基因型和等位基因分布频率差异均无统计学意义(均P0.05)。DKD组和non-DKD组比较,两组rs7955866位点基因型和等位基因频率分布频率差异均存在统计学意义(均P0.01);两组rs13312756、rs3812822位点基因型和等位基因分布频率差异均无统计学意义(均P0.05)。Logistics多因素回归分析结果显示携带rs7955866 A等位基因是T2DM患者发生DKD的危险因素(OR=1.706,95%CI 1.146~2.540,P=0.007)。结论陕西地区汉族人群中,FGF-23基因多态性可能与DKD临床易感性相关。  相似文献   

11.
Penile erection depends on the balanced action between antagonist vasoactive molecules such as nitric oxide (NO) and angiotensin. Endothelial nitric oxide synthase (eNOS) and angiotensin-converting enzyme (ACE) polymorphisms have been associated with endothelial dysfunction, which is described as a cause of erectile dysfunction (ED). Endothelial NOS and ACE are both regulators of vascular and corporal smooth muscle tone, which are connected by interaction between the NO-cyclic guanosine monophosphate pathway and the renin-angiotensin system. We analyzed the frequencies of 894 G/T (Glu298Asp) eNOS and ACE I/D polymorphisms in Mexican patients with ED (n=53) and in an age-matched control group (n=62). The populations analyzed were in Hardy Weinberg equilibrium. We found significant differences in allelic (chi2=4.42; P=.03) and genotypic frequencies (chi2=3.96; P=.04) between patients and controls for the 894 G/T eNOS polymorphism. Presence of the 894T allele in carriers increased the risk of ED (odds ratio [TT + GT versus GG] = 2.37; 95% confidence interval, 1.08 to 5.21; P=.02). Multiple logistic regression analysis showed that the Glu298Asp polymorphism was an independent factor for ED, as was diabetes mellitus, hypertension, cardiac disease, and cigarette smoking. No association was found between ACE I/D polymorphism and ED in the population studied. Therefore, our results suggest that Glu298Asp eNOS polymorphism plays a role as a genetic susceptibility factor for ED.  相似文献   

12.
Nitric oxide has been associated with insulin resistance and type 2 diabetes mellitus (DM). An association has been suggested between a single nucleotide polymorphism (Glu298Asp variant) of the endothelial nitric oxide synthase (eNOS) gene and increased risk of DM. However, the role of this polymorphism in favouring DM has not been investigated in hypogonadism, in which low testosterone and obesity are believed to play the major role. We aimed to evaluate whether eNOS gene single nucleotide polymorphism (Glu298Asp variant) might give a relevant contribution also to the onset of hypogonadism‐associated DM. 110 men affected by late‐onset hypogonadism were retrospectively reviewed. Patients were clinically and biochemically evaluated. Detection of eNOS Glu298Asp polymorphism was performed. After splitting the sample according to the three genetic variants (i.e. eNOSGG, eNOSGT, eNOSTT), no difference was evident in age, body mass index (BMI) and total testosterone. Conversely, DM prevalence, glycaemia and glycated haemoglobin were significantly higher in eNOSTT than in eNOSGT and eNOSGG. Logistic regression analysis showed that, after adjustment for age, BMI and total testosterone, eNOSTT was positively and significantly associated with DM. Our study suggests that Glu298Asp single nucleotide polymorphism of the eNOS gene may be an independent risk factor for hypogonadism‐associated type 2 DM.  相似文献   

13.
《Renal failure》2013,35(1):173-178
The association between endothelial nitric oxide synthase (eNOS) Glu298Asp gene polymorphism and diabetic nephropathy (DN) risk is still controversial. A meta-analysis was performed to evaluate the association between eNOS Glu298Asp gene polymorphism and DN susceptibility. A predefined literature search and selection of eligible relevant studies were performed to collect data from electronic database. Eight articles were identified for the analysis of association between eNOS Glu298Asp gene polymorphism and DN risk. T allele was associated with DN susceptibility in overall populations, in Asians, and for Caucasians (overall populations, p = 0.005; Asians, p = 0.004; Caucasians, p = 0.002). Furthermore, GG genotype might play a protective role against DN onset for overall populations, Asians, Caucasians, and Africans. However, a link between eNOS Glu298Asp gene polymorphism and DN risk was not found in overall populations, Asians, Caucasians, and Brazil population. In conclusion, T allele might become a significant genetic molecular marker for the onset of DN in overall populations, in Asians, and for Caucasians. However, more studies should be performed in the future.  相似文献   

14.
BACKGROUND: Impairment of nitric oxide generation caused by gene polymorphism is considered as a major factor in the deterioration of progressive renal disease, including diabetic nephropathy and hypertension. The aim of the present study was to examine the Glu298Asp polymorphism of endothelial nitric oxide synthase (eNOS) in patients with end-stage renal disease (ESRD). METHODS: The Glu298Asp polymorphism in exon 7 was determined in 100 ESRD patients who were maintained on hemodialysis at Dr. Soetomo Hospital, Surabaya, Indonesia, and in a control group of 100 unrelated healthy individuals. In the patient group, 39 patients had Type 2 diabetes mellitus (DM), 44 hypertension (HT) and 17 miscellaneous conditions. The mean length of time from onset of ESRD to the start of this study was 24.37 +/- 32.37 months (Mean +/- SD). RESULTS: The positivity of Glu298Asp in the ESRD group was significantly higher than that in the control group (p < 0.0001). The odds ratio for this group was 4.57 (95% confidence interval 2.52 - 8.31). The positivity of 298Asp in Type 2 DM ESRD with subgroup was significantly higher than that in healthy controls (p < 0.0001). The positivity of 298Asp in the subgroup of patients with HT-derived ESRD was also significantly higher (males p < 0.036, females p < 0.005) than that in healthy control group. Homozygotes with glutamate to aspartate substitution at nucleotide position 7702 showed a single band at 457 bp. CONCLUSION: It appears that Glu298Asp may be a predisposing factor in DM-derived and HT-derived ESRD.  相似文献   

15.
Zhang C  Lopez-Ridaura R  Hunter DJ  Rifai N  Hu FB 《Diabetes》2006,55(7):2140-2147
Endothelial nitric oxide synthase (eNOS) gene represents a promising candidate gene for coronary heart disease (CHD) because of its impact on eNOS activity. We systematically examined the associations of eight variants of the eNOS gene (two potentially functional variants [-786T>C and Glu298Asp] and six tagging single nucleotide polymorphisms) with CHD risk in a large cohort of diabetic patients. Among 861 diabetic men (>97% Caucasian) from the Health Professionals Follow-Up Study, 220 developed CHD, and 641 men without cardiovascular disease were used as control subjects. Genotype distributions of -786T>C and Glu298Asp polymorphisms were not significantly different between case and control subjects. CHD risk was significantly higher among men with the variant allele at the rs1541861 locus (intron 8 A/C) than men without it (adjusted odds ratio 1.5 [95% confidence interval 1.1-2.1]). Moreover, among control subjects, plasma soluble vascular cell adhesion molecule concentrations were significantly higher among carriers of this allele (P 0.019) and carriers of the variant allele of the -786T>C (P 0.010), or the Glu298Asp polymorphism (P 0.002), compared with noncarriers. In conclusion, our data suggested that -786T>C, Glu298Asp, and an intron 8 polymorphism of the eNOS gene are potentially involved in the atherogenic pathway among U.S. diabetic men.  相似文献   

16.
目的:观察血清中细胞间黏附分子1(intercellular adhesion molecule 1,ICAM-1)、晚期氧化蛋白产物((advance oxidative protein products,AOPP)在不同尿蛋白排泄率的糖尿病肾脏疾病(diabetic kidney disease,DKD)患者体内的水平,探讨血清 ICAM-1、AOPP 在 DKD的发生、发展中的作用。方法将62例2型糖尿病患者依据尿微量白蛋白排泄率(urine cdbumin excretion rate, UAER)分为正常白蛋白(UAER200μg/min)20例(显性组),所有患者被诊断有DKD在3年以内(含3年),近3个月无心肌梗塞、脑梗塞等疾病,排除急慢性感染、各类肾炎、尿路感染、肾血管疾病,停用影响血小板药物如潘生丁、非甾体抗炎药1周,抽血时,血压控制在135/85 mm Hg以下。另选择健康体检正常者20例(对照组),无高血压及内分泌代谢病,无心、肝、肾、脑病史。UAER均采用化学发光法测定,用夹心法酶联免疫吸附检测各组中 ICAM-1、AOPP 的水平。结果3组糖尿病患者 ICAM-1、AOPP水平均高于对照组,差异均有统计学意义(P〈0.05);显性组 ICAM-1、AOPP水平高于微量组、正常组(P〈0.01);微量组 ICAM-1、AOPP 水平高于正常组(P〈0.05)。血清ICAM-1与AOPP呈正相关(r=0.770,P〈0.01),血清ICAM-1、AOPP水平与UAER呈正相关(r=0.805、0.811,P〈0.01)。结论血清 ICAM1、AOPP 可成为 DKD 的早期预测因子,与 UAER联合检测有助于早期诊断DKD,对其进行早期干预在预防DKD中有重要意义。  相似文献   

17.
《Renal failure》2013,35(9):878-884
Abstract

Background: Nitric oxide is an important regulator of renal hemodynamics. This study aimed to investigate the role of endothelial nitric oxide synthase (eNOS) gene polymorphism in type 2 diabetic patients with end-stage renal disease (ESRD) and to elucidate any alteration of nitric oxide synthase (NOS) activity caused by this polymorphism. Methods: The study included 80 patients with type 2 diabetes of >10 years duration (40 with diabetes-derived ESRD, 40 without nephropathy) and 20 healthy controls. Plasma nitrate/nitrite level, and serum NOS activity were measured and eNOS Glu298Asp genotypes were determined. Results: The frequency of Glu/Glu (GG) genotype in diabetics with ESRD was lower than controls. However, the frequency of Asp/Asp (TT) genotype was increased in diabetics with ESRD as compared to those without nephropathy and controls. Diabetics with ESRD had significantly lower nitrate/nitrite level and NOS activity than those without nephropathy. Diabetic patients with TT genotype are at a significant risk for ESRD. Moreover, subjects carrying TT genotype had lower nitrate/nitrite level and NOS activity than those carrying GG genotype. In diabetics with ESRD, creatinine clearance was positively correlated with both nitrate/nitrite level and NOS activity. Conclusions: These results imply that TT genotype of eNOS may be associated with an increased risk of ESRD in Egyptian type 2 diabetics. It could represent a useful genetic marker to identify diabetics at high risk for the development of ESRD. However, larger future prospective studies are required to confirm the role of eNOS gene polymorphism in the progression of diabetic nephropathy to ESRD.  相似文献   

18.
目的 探讨D二聚体(DD)、纤维蛋白原(FIB)及C反应蛋白(CRP)联合检测在糖尿病肾脏病(DKD)的早期诊断中应用价值.方法 测定96例T2DM患者(T2DM组)及50名健康体检者(对照组)的空腹DD、FIB及CRP水平,并同时收集24 h尿液进行尿微量蛋白测定.根据尿白蛋白排泄率( UAER)将T2DM分为3组:...  相似文献   

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