同型半胱氨酸及其代谢酶基因多态性与冠心病的关系
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(川北医学院第二临床学院 南充市中心医院1.老年病科,;2.心内科,四川省南充市 637000)

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刘小艳,硕士,主治医师,研究方向为冠心病的临床研究,E-mail为1060978770@qq.com。

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四川省教育厅自然科学重点项目(15ZA0203)


Associations between homocysteine, homocysteine metabolism related single nucleotide polymorphisms and coronary heart disease
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1.Department of Geriatrics, ;2.Department of Cardiology, Nanchong Central Hospital,Second Clinical College of North Sichuan Medical College, Nanchong, Sichuan 637000, China)

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    摘要:

    目的 探讨血浆同型半胱氨酸(Hcy)水平及其代谢酶MTHFR C677T、MTHFR A1298C、MS A2756G、MTRR A66G基因多态性与冠心病的相关性。 方法 在川东北地区汉族人群中221例冠心病患者(冠心病组)和与之性别、年龄匹配的210例非冠心病患者(对照组)为研究对象。采用Hcy检测试剂盒(速率法)测定两组患者血浆Hcy水平,采用改良多重连接反应检测技术(iMLDR)检测目的基因,进行单核苷酸多态性(SNP)分型,分析两组之间Hcy水平及其Hcy代谢酶基因多态性分布情况。 结果 (1)冠心病组血浆Hcy水平明显高于对照组(15.39±6.89 μmol/L比12.90±6.44 μmol/L,P<0.05),Hcy在两组之间比较OR值为1.060 (95%CI 1.021~1.100),差异具有统计学意义(P<0.05)。(2) MTHFR C677T、MTHFR A1298C、MS A2756G、MTRR A66G在两组之间比较,无论是基因型分布频率还是等位基因分布频率均无统计学差异(P均>0.05);基因-基因间交互作用分析发现,这四个基因位点在冠心病的发病过程中不存在交互作用(P>0.05);基因-环境间交互作用分析发现,MTHFR C677T与吸烟、甘油三酯之间也不存在交互作用(P均>0.05)。(3)血浆Hcy水平在冠心病MTHFR TT基因型组(19.72±11.51 μmol/L)最高,且分别高于CC基因型组(13.99±4.77 μmol/L,P<0.05)及CT基因型组(15.44±6.25 μmol/L,P<0.05)。 结论 Hcy可能增加川东北地区汉族人群冠心病的患病风险,MTHFR C677T TT基因型的冠心病患者血浆Hcy水平较高,未发现MTHFR C677T、MTHFR A1298C、MS A2756G、MTRR A66G基因多态性与冠心病发病相关。

    Abstract:

    Aim To investigate the relationships between homocysteine (Hcy) and CHD, as well as the associations between Hcy related single nucleotide polymorphisms (SNP) and CHD in Han Population of Northeast Sichuan. Methods A case-control study design was adopted, the present study recruited 221 CHD patients and 210 age- and sex-matched healthy controls from Han Population of Northeast Sichuan. The levels of plasma Hcy were detected, 4 SNP on MTHFR C677T, MTHFR A1298C, MS A2756G, MTRR A66G genes were genotyped, associations between SNP, the levels of plasma Hcy and CHD were analyzed. Results (1)Plasma Hcy levels of CHD group (15.39±6.89 μmol/L) was obviously higher than that of control group(12.90±6.44 μmol/L), OR of Hcy was 1.060 (95%CI 1.021~1.100, P<0.05).(2) There were no significant differences in genotype and allele frequencies of the MTHFR C677T, MTHFR A1298C, MS A2756G and MTRR A66G observed between groups. By MDR between MTHFR C677T, MTHFR A1298C, MS A2756G and MTRR A66G didn't have interaction, between MTHFR C677T and smoking, TG didn't have interaction. (3)The plasma Hcy levels of CHD patients with MTHFR C677T CC genotype was 13.99±4.77 μmol/L, the plasma Hcy levels of CHD patients with CT genotypes was 15.44±6.25 μmol/L, the plasma Hcy levels of patients with TT genotypes was 19.72±11.51 μmol/L, the difference of the plasma Hcy levels in CHD patients with TT genotypes and CC genotypes was statistically significant(P<0.05). Conclusion Hcy may be a risk factor for CHD in Han Population of Northeast Sichuan.MTHFR C677T TT genotypes elevated the plasma Hcy levels in CHD patients, the gene polymorphism of MTHFR C677T, MTHFR A1298C, MS A2756G and MTRR A66G were not risk factors for CHD.

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刘小艳,刘涛.同型半胱氨酸及其代谢酶基因多态性与冠心病的关系[J].中国动脉硬化杂志,2018,26(1):55~59.

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  • 收稿日期:2017-07-25
  • 最后修改日期:2017-10-09
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  • 在线发布日期: 2018-02-01