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
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(南京医科大学附属常州第二人民医院心内科,江苏省常州市 213000)

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张良峰,硕士,副主任医师,研究方向为冠心病的基础与临床,E-mail为zhlf100@126.com。

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Associations Between Methylenetetrahydrofolate Reductase Gene Polymorphisms,Levels of Plasma Homocystein and Coronary Heart Disease
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Department of Cardiology,Affiliated Second People’s Hospital of Changzhou of Nanjing Medical University,Changzhou,Jiangsu 213000, China)

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    摘要:

    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 (χ2=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 (χ2=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(P<0.01),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。

    Abstract:

    Aim To investigate the associations of methylenetetrahydrofolate reductase(MTHFR)gene C677T polymorphism and levels of plasma homocystein and coronary heart disease. Methods A total of 256 patients admitted in our hospital from 2013 to 2015 were divided into two groups according to age:<60 years group(goung and middle-aged group, n=107) and ≥60 years group (old-aged group, n=149) . We selected 145 healthy controls as control group. The MTHFR gene C677T polymorphism was detected by polymerase chain reaction(PCR) and gene chip technology. The levels of plasma homocystein were detected by high performance liquid chromatography in all groups. We analyzed distribution of the MTHFR gene C677T polymorphism and the levels of plasma homocystein in all groups. Results The frequency of CC(homozygous normal),CT(heterozygous),and TT(homozygous mutant) in group <60 years, ≥60 years, control was individually 26.2%,43.9%,29.9%;35.6%,42.3%,22.1% and 37.9%,40.1%,21.4%. The frequency of control group and T alleles in group <60 years, ≥60 years,control group was individually 48.1%,51.9%;56.8%, 43.2% and 58.3%, 41.7%. There was significant difference in the allele frequency of C677T polymorphism between <60 years group and control group (χ2=5.10,P=0.015). There was no significant difference between ≥60 years group and control group (χ2=0.147,P=0.382). The levels of plasma homocystein in <60 years group were higher than control group. Conclusion There was higher levels of plasma homocystein in TT genotype. There was only associations between the MTHFR gene C677T polymorphism and young and middle-aged CHD patients. There was not relationship in old-aged CHD patients. The higher levels of plasma homocystein and higher T allele frequency maybe were risk factors in young and middle-aged CHD patients. The pathogenesis of CHD was different in different age grades patients.

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张良峰,王新,李海燕,陈新,宋瑛,孙铃,张秋. 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[J].中国动脉硬化杂志,2016,24(10):1023~1026.

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  • 收稿日期:2015-11-23
  • 最后修改日期:2016-01-12
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  • 在线发布日期: 2016-10-13