Polymorphism of genes encoding homocysteine metabolism–related enzymes and risk for cardiovascular disease

The aim of this review is to present a general overview of the relationships among homocysteine metabolism, polymorphism of the genes encoding homocysteine metabolism–related enzymes, and the nutrients influencing the plasma homocysteine level. Combining these factors creates a profile of an individual's susceptibility to complex diseases associated with hyperhomocysteinemia. Homocysteine is an amino acid derived from the demethylation of methionine. Hyperhomocysteinemia is associated with an increased risk of several complex diseases, including cardiovascular diseases. The level of plasma homocysteine depends on the combined effects of genetic and environmental factors. Polymorphisms of genes encoding homocysteine metabolism–related enzymes, such as methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and cystathionine β-synthase, influence plasma homocysteine concentration and thereby cardiovascular health. On the other hand, homocysteine metabolism may be modulated by dietary intake of the nutrients involved in homocysteine metabolism (ie, folates, vitamin B₆, and vitamin B₁₂). Thus, the appropriate health-promoting doses of these nutrients may vary among certain groups of individuals, depending on their genotypes and other risk factors for complex diseases. Better understanding of the relationship between genotype and nutrition influencing the plasma total homocysteine level and cardiovascular health may improve the cardiovascular diagnostic tests (ie, measurement of biologic markers). It could be possible to define the level of progression, severity, and susceptibility to disease much earlier than it is done now. In conclusion, the introduction of combined dietary and pharmacologic treatment would be possible at the initial stages of disease.     

养血清脑颗粒联合缬沙坦氢氯噻嗪治疗老年原发性高血压的临床研究

目的 探讨养血清脑颗粒联合缬沙坦氢氯噻嗪片治疗老年原发性高血压的临床疗效。方法 选取2020年6月—2021年11月在保定市第一医院收治的82例老年原发性高血压患者为观察对象,根据随机数字表法将所有患者分为对照组和治疗组,每组各41例。对照组口服缬沙坦氢氯噻嗪片,1片/次,1次/d;治疗组在对照组治疗的基础上温水冲服养血清脑颗粒,1袋/次,3次/d。两组患者连续治疗3个月。观察两组的临床疗效,比较两组的血压指标、血流动力学指标、血清指标。结果 治疗后,治疗组患者的总有效率为95.12%,对照组的总有效率为80.49%,组间比较差异有统计学意义（P＜0.05）。治疗后,两组的24 h收缩压（24 h SBP）、24 h舒张压（24 h DBP）、24 h收缩压标准差（24 h SSD）、24 h舒张压标准差（24 h DSD）明显低于治疗前（P＜0.05）,且治疗组24 h SBP、24 h DBP、24 h SSD、24 h DSD低于对照组（P＜0.05）。治疗后,两组的体循环阻力（SVR）低于治疗前,心排血量（CO）、心脏指数（CI）高于治疗前（P＜0.05）;并且治疗组的SVR低于对照组,CO、CI高于对照组,差异有统计学意义（P＜0.05）。治疗后,两组的血清同型半胱氨酸（Hcy）、内皮素-1（ET-1）水平低于治疗前,一氧化氮（NO）水平高于治疗前（P＜0.05）;治疗组的Hcy、ET-1水平低于对照组,NO水平高于对照组（P＜0.05）。结论 养血清脑颗粒联合缬沙坦氢氯噻嗪片治疗老年原发性高血压的疗效确切,能有效控制血压,改善血流动力学指标和血管内皮功能,安全性良好。     

Evaluation of the relationship between C677T variants of methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy

Homocysteine (Hcy) is a sulfur-containing amino acid involved in methionine metabolism. Elevated plasma Hcy concentration is a possible risk factor for vascular disease. Folate and vitamin B-12 are vitamins that are necessary for remethylization of Hcy to methionine. The methylenetetrahydrofolate reductase (MTHFR) is the key enzyme in remethylation of Hcy to methionine and supplies the required 5-methyltetrahydrofolate as the methyl donor for this reaction. It is well known that some antiepileptic drugs (AED) can lead to hyperhomocysteinemia by affecting the levels of folate and vitamin B-12. The C677T variant of MTHFR gene can also lead to hyperhomocysteinemia particularly when serum folate level is decreased. In this study, we investigated the levels of serum folate, vitamin B-12 and Hcy in epileptic patients receiving carbamazepine (CBZ) or valproic acid (VPA) as monotherapy, and we also evaluated the probable contribution of the C677T variant of MTHFR gene in hyperhomocysteinemia. A total of 93 patients with idiopathic epilepsy receiving CBZ or VPA as monotherapy were included in this study. CBZ and VPA groups consisted of 29 and 64 patients, respectively. The control group comprised 62 healthy children. We measured serum folate, vitamin B-12 and Hcy levels in each group. We found that mean serum folate level was statistically lower and mean Hcy level was higher in epileptic patients receiving CBZ or VPA when compared with those of controls'. We also determined the C677T variants of MTHFR gene (as normal, heterozygote or homozygote) in epileptic patients. We compared the variant groups for serum folate, vitamin B-12 and Hcy levels and found no significant differences among them. In conclusion, C677T variants of MTHFR gene have no contribution in hyperhomocysteinemia in epileptic patients receiving CBZ or VPA.     

CysC、Hcy、HbAlc、hs-CRP在糖尿病早期肾损伤中的应用研究

目的探索筛选糖尿病早期肾损伤的最佳检验指标,并评价其应用价值。方法选取2010年5月至2012年5月接受治疗的200例糖尿病早期肾损伤患者为实验对象(实验组),选取健康人群100名为对照组,对实验组和对照组应用常规检验方法和胱抑素C、同型半胱氨酸、糖化血红蛋白、超敏C反应蛋白进行同步对比试验研究。结果肾功能正常组和早期肾损伤患者组的各项指标差异有统计学意义(P<0.05),且同时测定4项指标的阳性检出率为92.00%,远远高于单项检测指标的81.00%。结论同时测定胱抑素C、同型半胱氨酸、糖化血红蛋白、超敏C反应蛋白中筛选糖尿病早期肾损伤的检验方法准确率高。     

妊娠并发症血清叶酸、维生素B12和同型半胱氨酸测定结果分析

目的通过测定妊娠并发症患者血清叶酸（Folic acid FA）、维生素B12（Vitamin B12 VitB12）和同型半胱氨酸（Hcy）水平，以探讨其与妊娠期并发症的关系。方法对95例妊娠并发症患者和62例正常健康的晚期孕妇进行血清FA、VitB12和Hcyy的测定，FA和VitB12采用化学发光法测定，Hcy采用酶免疫法测定，分析不同组别的三者异常水平的差异。结果妊娠并发症组Hcy水平明显高于正常晚孕组和正常非孕组（P〈0．01），FA和VitB12低于正常晚孕组和正常非孕组，但无显著性差异（P〉0．05）。妊娠并发症组与正常晚孕组和正常非孕组FA、VitB12及Hcy异常水平比较有显著性差异（P〈0．01，P〈0．05）。结论孕妇妊娠期若缺乏FA及VitB12,可导致孕妇贫血、胎儿生长受限、低体重儿及早产儿，还可能引起高Hcy血症，使血管内皮细胞受损，从而诱发妊娠高血压综合症（PIH），对母儿造成伤害。     

同型半胱氨酸与颈动脉粥样硬化及脑梗死关系的探讨

目的 探讨同型半胱氨酸(Hcy)与颈动脉粥样硬化及脑梗死之间的关系.方法观察90例脑梗死患者和40例对照者,用循环酶法测定血清Hcy水平,用彩色多普勒超声检查颈动脉颅外段.采用非条件Logistic回归分析颈动脉粥样硬化的危险因素及与脑梗死的关系.结果脑梗死组Hcy浓度为22.32(17.05～27.18)μmol/L,显著高于对照组的12.71(9.63～16.48)μmol/L(P《0.001),颈动脉粥样硬化与脑梗死相关;校正了传统危险因素后,Hcy仍然与颈动脉粥样硬化相关.结论血清Hcy升高可能通过促进颈动脉粥样硬化,导致脑梗死的形成.     

脑梗死患者血清同型半胱氨酸及C反应蛋白水平的变化分析

目的检测脑梗死患者血清Hcy、CRP水平,分析其相关性。方法选取在我院接受治疗的脑梗死患者100例作为试验组,健康查体者50例为对照组,检测血清Hcy、CRP水平,分析其与脑梗死的相关性。结果试验组血清Hcy为20.82±7.02umol/l、CRP为4.02±4.35umol/l,均高于对照组,差异有统计学意义(P0.05);脑梗死重型组患者的血清Hcy、CRP水平、神经功能缺损程度均高于轻型组、中型组,差异有统计学意义(P0.05);大梗死组患者的血清Hcy、CRP水平均高于腔隙性脑梗死组、小梗死组,差异有统计学意义(P0.05)。结论脑梗死患者存在血清Hcy、CRP水平升高,神经缺损程度较重、脑梗死面积大的患者,其血清Hcy、CRP水平升高更加明显。     

急性脑梗死患者血浆Hcy、eNOS、sTM、hs－CRP、vWF的变化及意义

目的：探讨血浆生物标志物检查诊断急性脑梗死患者的特异性和敏感度,以辅助临床诊断和病情随访。方法分别测定150例急性脑梗死患者（观察组）和50例健康查体者（对照组）的血浆同型半胱氨酸（ Hcy）、内皮型一氧化氮合酶（eNOS）、可溶性血栓调节蛋白（sTM）、超敏C反应蛋白（hs－CRP）及血管性假血友病因子（vWF）水平。结果观察组血浆Hcy、eNOS、sTM、hs－CRP、vWF水平均显著高于对照组（ P均＜0．05）。根据ROC曲线得出当Hcy临界值为9．11μmol／L时诊断急性脑梗死的敏感性为95．2％、特异性为76％,eNOS临界值为437．30μmol／L时诊断的敏感性为79％、特异性为96％,sTM临界值为7．43μmol／L时诊断的敏感性为75．2％、特异性为96％,hs－CRP临界值为3．38 mg／L时诊断的敏感性为81．9％、特异性为90％,vWF临界值为194．85 ng／mL时诊断的敏感性为75．2％、特异性为80％。结论血浆Hcy、eNOS、sTM、hs－CRP、vWF水平可作为急性脑梗死诊断的辅助指标。     

急性心肌梗死不同梗死部位与冠脉病变血管血浆hs-CRP和Hcy变化的临床观察

目的探讨急性ST段抬高型心肌梗死（STEMI）不同梗死部位和冠脉病变血管血浆hs-CRP、Hcy的变化。方法 69例急性心肌梗死患者根据心电图、心肌坏死标记物及冠脉造影分为急性ST段抬高广泛前壁心肌梗死组37例和急下壁心肌梗死组32例。于发病24h内抽取静脉血行血浆hs-CRP、Hcy检测。结果急性ST段抬高广泛前壁和下壁心肌梗死早期血浆hs-CRP和Hcy均高于正常值,且广泛前壁心肌梗死组的hs-CRP和Hcy要高于下壁心肌梗死组,但两组比较差异无统计学意义（P〉0.05）。结论 hs-CRP和Hcy是急性心肌梗死的危险因素,并且可反映心肌损害和血管病变的程度。     

2型糖尿病并发脑梗塞与高同型半胱氨酸血症关系的研究

目的 探讨2型糖尿病并发脑梗塞与血清同型半胱氨酸(Hcy)水平变化的关系.方法 化学发光法检测33例糖尿病并发脑梗塞患者及34例无血管并发症的糖尿病患者血清Hcy水平,以同期门诊健康体检者51例作为正常对照.结果 并发脑梗塞组糖尿病患者血清Hcy平均水平明显高于无血管并发症的糖尿病组及正常对照组,其高Hcy血症发生率也明显增高.无血管并发症的2型糖尿病患者血清Hcy水平与正常对照组比较无明显差异.结论 检测2型糖尿病患者血清Hcy对于预测脑血管并发症以及改善病人预后具有重要临床价值.