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1.
目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸水平与2型糖尿病患者合并冠心病的关系。方法:运用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测228例2型糖尿病患者(其中126例伴冠心病)及114例正常对照组MTHFRC677T基因型,采用高效液相色谱法测定血浆同型半胱氨酸水平。结果:在114例正常对照组中突变T等位基因频率为38.0%,与中国香港地区人群T等位基因频率(33.0%)相似。糖尿病组MTHFR基因型频率分布与正常对照组相比差异无统计学意义(χ2=3.67,P>0.05)。糖尿病伴冠心病组MTHFRT等位基因频率(45.2%)明显高于糖尿病不伴冠心病组(30.4%),基因型和等位基因频率分布差异均有统计学意义(分别为χ2=11.98,P<0.01;χ2=8.72,P<0.01),T等位基因与糖尿病并发冠心病密切相关(OR=1.89,95%CI:1.24-2.88))。糖尿病伴冠心病组、糖尿病不伴冠心病组及正常对照组中,MTH-FR基因有C677T突变者血浆同型半胱氨酸水平均显著高于无基因突变者。结论:MTHFR基因C677T位碱基突变致血浆同型半胱氨酸水平升高可能是糖尿病并发冠心病的重要遗传因素。  相似文献   

2.
目的:探讨我国北方地区糖尿病合并冠心病(DM+CHD)者同型半胱氨酸(Hcy)特点及其与代谢相关酶亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的关系。方法:研究对象均为北方汉族人,包括无血缘关系的70例DM+CHD患者、71例DM患者和85名健康对照组。应用荧光偏振免疫法测定Hcy水平,应用微粒子酶免分析免疫法测定血浆叶酸、维生素B12浓度,同时测定血脂。应用聚合酶链反应-限制性内切酶片段长度多态性分析MTHFR C677T基因多态性。结果:DM+CHD组Hcy平均水平(中位数)显著高于DM组和对照组(P〈0.01)。DM+CHD组叶酸、维生素B12明显低于DM组及正常对照组(P〈0.05)。DM+CHD组的T等位基因频率明显高于DM组、对照组(P〈0.01)。DM+CHD组中MTHFR TT基因型Hcy明显高于CT基因型以及CC基因型(P〈0.01)。Logistic回归分析得到高Hcy血症(HHcy)的OR值为4.085(95%CI 1.983~8.415)(P〈0.01);MTHFR携带T基因的OR值为2.264(95%CI 1.115-4.594)(P〈0.05)。结论:HHcy、MTHFR677携带T基因是我国北方地区汉族人2型DM合并CHD发生的危险因素。  相似文献   

3.
目的:探讨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位点与糖尿病肾病的关系。方法:运用PCR-RFLP检测2型糖尿病合并糖尿病肾病者60例(DN+组)、2型糖尿病不伴糖尿病肾病者60例(DN-组)、60例健康对照组(NC组)的MTHFR、eNOS基因型,比较各组间等位基因频率和基因型频率。结果:(1)MTHFR基因C677T位点DN+组TT基因型频率及T等位基因频率明显高于DN-组及NC组(P<0.05);(2)eNOS基因G894T位点DN+组T等位基因频率明显高于DN-组及NC组(P<0.05);(3)MTHFR基因C677T位点的TT基因型与eNOS基因G894T位点的TG基因型在2型糖尿病肾病方面具有协同作用(P<0.05)。结论:MTHFR基因C677T位点和eNOS基因G894T位点变异增加了糖尿病患者发生肾病的危险性,可能是糖尿病肾病的遗传易感基因。  相似文献   

4.
Objective To investigate the association between total homocysteine (tHcy) level in plasma and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genetic polymorphisms in a Chinese Han nationality population with type 2 diabetes mellitus (T2DM) accompanied by dyslipidemia.Methods This case-control study enrolled T2DM patients with dyslipidemia and without dyslipidemia respectively. Sanger dideoxy-mediated chain-termination method was used to detect the gene polymorphisms of MTHFR C677T and A1298C. Plasma tHcy and lipid levels were measured as well. The genotype frequency and allele frequency between the dyslipidemia and non-dyslipidemia groups were compared by using Chi-square test. Plasma tHcy level of T2DM patients who carried the different genotypes was compared by Student’s t test.Results Finally, 82 T2DM patients with dyslipidemia and 94 ones without dyslipidemia were included in this study. There was a significant correlation between tHcy level and MTHFR C677T gene polymorphism in T2DM patients (t=2.27, P=0.02). Moreover, the plasma tHcy level in the dyslipidemia patients who carried MTHFR 677 TT genotype was significantly higher than that in those with CT+CC genotype (13.62±6.97 vs. 10.95±3.62 μmol/L, t=2.20, P=0.03); while for patients without dyslipidemia, comparison of the tHcy level between those who carried the above two alleles showed no significantly difference (13.34±6.03 vs. 12.04±5.09 μmol/L, t=1.08, P=0.29).Conclusion MTHFR 677TT genotype might associate with higher tHcy level in T2DM patients with dyslipidemia.  相似文献   

5.
目的 研究育龄期女性5,10-亚甲基四氢叶酸还原酶(5,10-methylene tetrahydrofolate reductase,MTHFR)基因多态性及其与维生素B12(vitamin B12,VitB1 2)、同型半胱氨酸(homocysteine,Hcy)、叶酸(serum folic acid,SFA)的...  相似文献   

6.
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与2型糖尿病(T2DM)的关系。方法 选取226例T2DM患者(病例组)和194例健康对照个体(对照组),检测两组同型半胱氨酸水平,采用PCR-芯片杂交技术检测亚甲基四氢叶酸还原酶C677T多态位点基因型,计算等位基因频率并统计分析。结果 2组MTHFR基因C677T位点基因型和等位基因频率比较,差异均无统计学意义(P > 0.05),MTHFR基因TT型同型半胱氨酸水平显著高于CC型及CT型。结论 MTHFR基因C677T多态性影响同型半胱氨酸水平,但与T2DM的发病无明显的相关性。  相似文献   

7.

目的  研究NQO1基因C609T多态性与糖尿病视网膜病变之间的关系。方法  根据眼底检查的结果,把546例2型糖尿病患者分成糖尿病视网膜病变组(DR组)和糖尿病无视网膜病变组(NDR组)。采用构象差异凝胶电泳对NQO1基因C609T多态性进行分型。结果  NQO1基因C609T多态性的CC、CT和TT 3种基因型在DR组的频率分别为29.7%、53.2%和17.1%,在NDR组的频率分别为28.1%、51.8%和20.1%,两组比较差异无统计学意义(c2=0.678,P =0.713)。结论  NQO1基因C609T多态性与我国江西汉族2型糖尿病视网膜病变的发生无关。

  相似文献   

8.
目的探讨亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性及血浆同型半胱氨酸(Hcy)水平与高脂血症的关联性。方
法收集1591例研究对象,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测MTHFR C677T基因多态性,采
用酶循环法检测血浆Hcy,同时检测血脂水平,按血脂水平将研究对象分组,其中高脂血症组694例,健康对照组897例,比较两
组MTHFR C677T基因多态性及血浆Hcy的差异。统计工具采用SPSS17.0统计软件。结果高脂血症组的MTHFR C677T基
因CC、CT、TT三种基因型频率和C、T两种等位基因频率,以及血浆Hcy水平与健康对照组比较差异无显著性意义(P>0.05)。
CC、CT、TT三种不同MTHFR C677T基因型的血浆Hcy水平差异有极显著性意义(P<0.01),而六种血脂水平差异无显著性意
义(P>0.05);通过进一步两两比较结果显示,TT基因型的血浆Hcy水平与CC、CT基因型比较差异有极显著性意义(P<0.01),
TT基因型的血浆Hcy 水平明显高于CC、CT基因型;而CC基因型的血浆Hcy 水平与CT基因型比较差异无显著性意义(P>
0.05)。结论MTHFR C677T基因多态性和血浆Hcy水平两者与高脂血症均不具关联性,而MTHFR C677T基因多态性与血浆
Hcy水平显著相关,TT基因型的血浆Hcy水平明显高于CC、CT基因型。
  相似文献   

9.
BACKGROUND: Essential hypertension (EH) and cardiovascular disease are common, multifactorial disorders likely to be influenced by multiple genes of modest effect. The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is related to MTHFR enzyme activity and to plasma homocysteine (Hcy) concentration. This study was designed to investigate an association of this polymorphism with coronary artery disease (CAD), EH, and healthy subjects. METHODS: In this study, we measured serum folate, serum vitamin B12, and plasma homocysteine and determined the MTHFR C677T genotype of 78 patients with essential hypertension, 100 patients with coronary artery disease, and 100 healthy subjects. MTHFR genotypes were assessed by real-time polymerase chain reaction. RESULTS: CC, CT, and TT genotype frequencies were 52, 44.0, and 4.0% in patients with CAD, respectively. In patients with essential hypertension, the CC, CT, and TT genotype frequencies were 46.2, 41.0, and 12.8%, respectively. In control subjects, the CC, CT, and TT genotype frequencies were 72.0, 26.0, and 2.0%, respectively. The C allele was significantly more frequent in controls compared with patients with EH (p<0.05), and CC genotypes were more frequent in controls compared to patients with EH and CAD. Homocysteine level was higher in TT genotypes in CAD patients compared with CC and CT genotypes (p<0.01). MTHFR gene polymorphism is an independent risk factor for EH but not for CAD. CONCLUSIONS: The TT genotype of the 677C/T MTHFR polymorphism is associated with EH and CAD. In addition, TT genotypes had higher plasma Hcy levels in CAD patients compared with CC and CT genotypes. MTHFR gene polymorphism is an independent risk factor for EH but not for CAD.  相似文献   

10.
甲烯四氢叶酸还原酶基因多态性与2型糖尿病的关系   总被引:1,自引:1,他引:0  
目的:探讨中国人群2型糖尿病患者中甲烯四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病发病的关系.方法:采用PCR技术和限制性内切酶片段长度多态性 (RFLP) 的方法检测患者的MTHFR基因677C→T突变,统计各组对象的突变频率. 结果:MTHFR基因677C→T突变型等位基因(T)频率在病例组和对照组中差异无显著性(χ2=2.29,P>0.05),TT、CT和CC 3种基因型频率差异无显著性.基因型频率的相对风险分析,CT基因型患2型糖尿病风险是CC基因型的1.96倍,TT基因型患2型糖尿病风险是CC基因型的2.57倍.结论:MTHFR基因突变型等位基因与2型糖尿病发生无必然的联系,突变基因型并没有增加2型糖尿病的发病风险.  相似文献   

11.
目的研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病(T2DM)的关系。方法应用PCR-RFLP方法检测91例2型糖尿病患者及124例健康对照者MTHFR基因C677T多态位点基因型,并进行统计分析。结果2型糖尿病组MTHFR基因1Tr纯合基因型频率为25.27%,CT杂合基因型频率为56.04%,T等位基因频率为53.29%。与健康对照组比较(29.84%、56.45%、58.06%),差异均无统计学意义(P〉0.05)。结论MTHFR基因677位点多态性与2型糖尿病无相关关系。  相似文献   

12.
目的:研究临沂地区2型糖尿病视网膜病变(DR)与醛糖还原酶(AR)基因启动子区C(-106)T多态性的相关性。方法2型糖尿病患者240例,分为患有糖尿病并发视网膜病变组(DR组)125例,无视网膜病变组(NDR组)115例,另选正常对照组(NDM组)100例。提取外周血基因DNA,经PCR后应用限制性内切酶BfaⅠ进行酶切,酶切产物于2%琼脂糖电泳,用紫外凝胶成像系统观察结果。结果①全部研究对象中共见有三种基因型,CC纯合子等位基因型,TT纯合子等位基因型,CT杂合子等位基因型。②在基因型频率和等位基因频率比较中,健康对照组与NDR组差异无统计学意义,但两组与DR组比较差异均有统计学意义。③DR组与其余两组比较,携带T等位基因(CT或TT)的频率明显增加。④logistic回归分析显示CT、TT基因型是DR的危险因素。结论醛糖还原酶基因启动子区C(-106)T多态性与2型糖尿病糖尿病视网膜病变密切相关。  相似文献   

13.
目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C多态性与2型糖尿病(T2DM)的关系。方法:选取106例T2DM患者(病例组)和109名健康对照个体(对照组),采用聚合酶链反应一限制性片段多态性分别检测C677T和A1298C多态位点等位基因频率和基因型并统计分析。结果:2组MTHFR基因C677T和A1298C位点基因型和等位基因频率比较差异均无统计学意义(P〉0.05),T2DM发病中2个突变位点之间没有协同作用(P〉0.05)。结论:MTHFR基因C677T和A1298C多态位点与T2DM的易感性无明显的相关性。  相似文献   

14.
Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus (T2DM). Previous researches report that methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms might influence the occurrence of coronary heart disease (CHD) in T2DM patients. The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD in T2DM patients. Methods A total of 197 subjects with T2DM were studied, of which 95 patients with CHD. The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method, and compared between patients with CHD and those without CHD. Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD (P=0.011). However, there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD. Furthermore, the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine (Hcy) levels (≤15 μmol/L) (P=0.006), while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hcy levels (>15 μmol/L) (P=0.491). Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hcy levels.  相似文献   

15.
Objective To investigate the association between the methylenetetrahydrofolate reductase gene C677T (MTHFR C677T) polymorphism and diabetic retinopathy (DR).Methods A total of 6971 subjects including 2707 DR patients and 4264 controls from 23 studies were enrolled in the study. A random-effects model was applied to estimate the overall effects and the stratified effects of the MTHFR C677T polymorphism on the risk of DR, and study quality was also assessed.Results Strong associations were observed between the MTHFR C677T polymorphism and DR. The carries of MTHFR C677T were more likely to be found in the DR group in relative to the healthy control group with odds ratio 1.68, 2.55, and 2.31 respectively in allele contrast model (T vs. C, 95%CI: 1.29-2.18, P<0.001, I 2=78.4%), homozygous model (TT vs. CC, 95%CI: 1.70-3.83, P=0.008, I 2=54.4%) and dominant model (TT+CT vs. CC, 95%CI: 1.62-3.29, P<0.001, I 2=74.7%). This association can also be found in contrast to the Ncd (non-complicated diabetic mellitus) group (allele contrast, OR=1.50, 95%CI: 1.07-2.11, P=0.032, I 2=62.1%; homozygous, OR=2.39, 95%CI: 1.06-5.38, P=0.017, I 2=66.7%; dominant, OR=1.59, 95%CI: 0.97-2.62, P=0.056, I 2=56.5%). For the heterozygous model (CT vs. CC), the association was significant in contrast to the healthy control group (OR=1.46, 95%CI: 1.64-3.69, P=0, I 2=77.3%), while in contrast to the Ncd control group the association was not statistically meaningful (OR=1.38, 95%CI: 0.87-2.18, P=0.131, I 2=43.7%). For the recessive model, 1.92-fold increased risk was found only in contrast to the Ncd control group (95%CI: 1.07-3.43, P=0.064, I 2=55.0%). There was no significant association found in the models in contrast to the DM control group.Conclusion In this meta-analysis, we found an association between the MTHFR C677T polymorphism and DR, especially in contrast to the Ncd control group. Further studies are required to establish more definite relationship.  相似文献   

16.
目的:探讨亚甲基四氢叶酸还原酶(MTHFR) C677T 和甲硫氨酸合成酶(MS) A2756G 基因多态性与我国男性精液质量的相关性。方法:选取特发性少、弱、畸精症患者75 例为实验组, 有正常孕育史和精液质量正常的男性72 例为对照组, 分析MTHFR C677T 及MS A2756G 基因多态性在两组中分布的差异, 检测两组中血同型半胱氨酸(homocysteine, Hcy) 水平。结果:精液异常组中MTHFR 基因C677T 多态性CT, TT 及CT+TT 型的分布频率均高于对照组中相应基因型的分布频率(P<0.05), T 等位基因在精液异常组中的分布频率亦高于对照组(P<0.05)。MSA2756G 基因多态性各基因型及等位基因在对照组和精液异常组中的分布频率差异无统计学意义(P>0.05)。精液异常组的Hcy 水平高于对照组(P<0.05)。所有研究对象中, MTHFR677CT, TT 及CT+TT 型的Hcy 水平均高于CC 型( 分别P<0.05, P<0.01, P<0.01)。MS2756AA, AG 及GG 型的Hcy 水平比较无明显差异(P>0.05)。结论:MTHFR C677T基因的CT 型及TT 型多态性改变与我国男性精液异常密切相关, 可能是导致精液异常的原因之一;T 等位基因可能是导致精液异常的危险因素。MTHFR C677T 基因多态性的改变可能通过高Hcy 途径影响男性精液质量。MS A2756G基因多态性与我国男性精液质量无关。  相似文献   

17.
陈晖  郭媛 《海南医学院学报》2012,18(3):325-326,329
目的:观察2型糖尿病视网膜病变(DR)患者同型半胱氨酸(HCY)和血流变学指标的变化,探讨其与DR的关系。方法:根据眼底镜检查或眼底照相结果将60例2型糖尿病患者分为单纯糖尿病(SDM)组26例和DR组24例,24例体检健康者作为正常对照组,测定并比较各组HCY和血流变学指标全血黏度、血浆黏度及红细胞压积。结果:正常对照组HCY、全血黏度、血浆黏度及红细胞压积显著低于SDM组和DR组(P<0.05);DR组HCY、全血黏度、血浆黏度及红细胞压积显著高于SDM组(P<0.05)。结论:糖尿病患者普遍存在HCY、血液流变性异常,糖尿病视网膜病变患者的变化更明显,检测糖尿病患者HCY、血流变学指标的变化,有助于早期发现2型糖尿病患者视网膜病变。  相似文献   

18.
目的探讨血浆同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与2型糖尿病(T2DM)患者合并非酒精性脂肪肝的关系。方法对伴和不伴非酒精性脂肪肝的159例T2DM患者行血浆Hcy、叶酸、VitB12、糖化血红蛋白(HbAlc)、血糖水平测定,以PCR-限制性片段长度多态性分析技术检测MTHFR基因C677T多态性,并与52例正常者(对照组)比较。结果单纯糖尿病组(96例)和非酒精性脂肪肝组(63例)高Hcy血症发生率分别为21%(20/96)和49%(31/63),高于对照组(8%,4/52),非酒精性脂肪肝组又高于单纯糖尿病组(均P〈0.05);T2DM患者血浆Hcy水平与MTHFR基因型、HbAlc、血糖水平呈正相关(r值分别为0.248,0.423和0.242,均P〈0.05);logistic回归分析显示,病程、体重指数、空腹血糖、Hcy均为T2DM非酒精性脂肪肝的独立危险因素。结论高Hcy血症是T2DM非酒精性脂肪肝的危险因素;MTHFR基因型、叶酸、VitB12以及代谢紊乱程度影响血浆Hcy水平。  相似文献   

19.
目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因 C677T 位点突变及同型半胱氨酸(Hcy)水平与维吾尔族静脉血栓栓塞症(VTE)发生的关系。方法选择2008年1月-2012年12月在新疆医科大学第一附属医院住院的维吾尔族 VTE 患者94例(VTE 组),健康对照组86例;采用聚合酶链反应-限制性片段长度多态性(PCR-PFLP)技术检测 MTHFR 基因 C677T 多态性,应用酶循环法检测血浆 Hcy 水平,分析 Hcy 及 MTHFR 基因C677T 多态性与 VTE 的关联性。结果VTE 组与健康对照组 MTHFR 基因 C677T 突变位点基因型分布和各等位基因频率比较差异均有统计学意义(P 均<0.05);VTE 组血浆 Hcy 水平高于健康对照组,差异有统计学意义(P <0.05)。VTE 组677TT 基因型者血浆 Hcy 水平高于 CC 和 CT 基因型,差异有统计学意义(P 均<0.05)。结论MTHFR 基因 C677T 基因多态性及血浆 Hcy 水平可能与维吾尔族人群 VTE 的发生有关。  相似文献   

20.
Objective To identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). Methods From November 2009 to September 2010, patients with T2DM were recruited and assigned to DR group or diabetic without retinopathy (DWR) group according to the duration of diabetes and the grading of 7-field fundus color photographs of both eyes. Genotypes of the C(-106)T polymorphism (rs759853) in ALR gene were analyzed using the MassARRAY genotyping system and an association study was performed. Results A total of 268 T2DM patients (129 in the DR group and 139 in the DWR group) were included in this study. No statistically significant differences were observed between the 2 groups in the age of diabetes onset (P=0.10) and gender (P=0.78). The success rate of genotyping for the study subjects was 99.6% (267/268), with one case of failure in the DR group. The frequencies of the T allele in the C(-106)T polymorphism were 16.0% (41/256) in the DR group and 19.4% (54/278) in the DWR group (P=0.36). There was no signit~cant difference in the C(-106)T genotypes between the 2 groups (P=0.40). Compared with the wild-type genotype, odds ratio (OR) for the risk of DR was 0.7 (95% CI, 0.38-1.3) for the heterozygous CT genotype and 0.76 (95% CI, 0.18-3.25) for the homozygous TT genotype. The risk of DR was positively associated with microalbuminuria (OR=4.61; 95% CI, 2.34-9.05) and insulin therapy (OR=3.43; 95% CI, 1.94-6.09). Conclusions Microalbuminuria and insulin therapy are associated with the risk of DR in Chinese patients with T2DM. C(-106)T polymorphism of the ALR gene may not be significantly associated with DR in Chinese patients with T2DM.  相似文献   

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