引用本文:张云飞,徐炳欣,吴 帆,杨琼琼.MTHFR基因多态性与河南中部地区汉族人群急性冠脉综合征发生的关联性研究[J].中国临床新医学,2019,12(12):1279-1283.
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MTHFR基因多态性与河南中部地区汉族人群急性冠脉综合征发生的关联性研究
张云飞,徐炳欣,吴 帆,杨琼琼
461000 河南,河南科技大学附属许昌市中心医院心血管内科(张云飞,吴 帆,杨琼琼),药学部(徐炳欣);461000 河南,许昌市心血管药物临床研究重点实验室(张云飞,徐炳欣,吴 帆)
摘要:
[摘要] 目的 探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与河南中部地区汉族人群急性冠脉综合征(ACS)发生的关联性。方法 招募河南中部地区汉族ACS患者280例作为观察组,选取同期行健康体检的河南中部地区汉族健康受试者286名作为对照组。采用荧光染色原位杂交技术检测两组MTHFR基因C677T、A1298C位点基因型,比较两组受试者各基因型及等位基因分布的差异,采用二元Logistic回归分析MTHFR基因多态性与ACS发生的关联性。结果 两组各基因型分布频率均符合Hardy-Weinberg平衡(P>0.05)。对照组MTHFR C677T位点CC、CT、TT型分布频率分别为31.82%、47.90%、20.28%,MTHFR A1298C位点AA、AC、CC型分布频率分别为73.78%、21.68%、4.54%;观察组MTHFR C677T位点CC、CT、TT型分布频率分别为16.43%、40.71%、42.86%,MTHFR A1298C位点AA、AC、CC型分布频率分别为69.29%、27.14%、3.57%。两组受试者MTHFR C677T各基因型分布频率及等位基因频率比较差异有统计学意义(P<0.05),而MTHFR A1298C各基因型分布频率及等位基因频率比较差异无统计学意义(P>0.05)。二元Logistic回归分析显示,MTHFR C677T基因型是ACS发生的影响因素(P<0.05),以TT型为参照,CC型发生ACS的可能性是TT型的24.4%,CT型发生ACS的可能性是TT型的40.2%。结论 MTHFR基因多态性与河南中部地区汉族人群ACS发生有关,其中C677T位点突变可能是ACS发生的影响因素,而A1298C位点基因多态性与ACS发生的关联性较低。
关键词:  5,10-亚甲基四氢叶酸还原酶  基因多态性  汉族  急性冠脉综合征  关联性
DOI:10.3969/j.issn.1674-3806.2019.12.06
分类号:R 973.2
基金项目:河南省科技攻关计划项目(编号:182102310214);许昌市重大科技专项项目(编号:20180113031)
Correlation between MTHFR gene polymorphism and occurrence of acute coronary syndrome in Han population in the central area of Henan province
ZHANG Yun-fei, XU Bing-xin, WU Fan, et al.
Department of Cardiology, Xuchang Central Hospital Affiliated to Henan University of Science and Technology, Henan 461000, China
Abstract:
[Abstract] Objective To explore the correlation between polymorphism of 5,10-methylenetetrahydrofolate reductase(MTHFR) gene and the occurrence of acute coronary syndrome(ACS) in Han population in the central area of Henan province. Methods Two hundred and eighty ACS patients of Han population in the central area of Henan province were recruited as the observation group, and 286 healthy subjects of Han population in the central area of Henan province were selected as the control group. The genotypes of C677T and A1298C sites of MTHFR gene were detected by fluorescence staining in situ hybridization. The differences of genotypes and allele distribution were compared between the two groups. The correlation between MTHFR gene polymorphism and ACS was investigated by binary Logistic regression analysis. Results The distribution frequencies of genotypes in both groups were all in line with Hardy-Weinberg equilibrium(P>0.05). In the control group, the distribution frequencies of CC, CT and TT genotypes in MTHFR C677T site were 31.82%, 47.90% and 20.28%, respectively; the distribution frequencies of AA, AC and CC genotypes in MTHFR A1298C site were 73.78%, 21.68% and 4.54%, respectively. In the observation group, the distribution frequencies of CC, CT and TT genotypes in MTHFR C677T site were 16.43%, 40.71% and 42.86%, respectively; the distribution frequencies of AA, AC and CC genotypes in MTHFR A1298C site were 69.29%, 27.14% and 3.57%, respectively. There were significant differences in genotype frequencies and allele frequency of MTHFR C677T between the two groups(P<0.05), while there were no significant differences in genotype frequencies and allele frequency of MTHFR A1298C between the two groups(P>0.05). Binary Logistic regression analysis showed that MTHFR C677T genotype was the influencing factor of ACS(P<0.05). With TT genotype as the reference, the possibility of ACS in CC genotype was 24.4% of TT genotype, and that in CT genotype was 40.2% of TT genotype. Conclusion MTHFR gene polymorphism is related to the occurrence of ACS in the Han population in the central area of Henan province, among which C677T mutation may be the influencing factor of ACS, while A1298C gene polymorphism may be low related to the occurrence of ACS.
Key words:  5,10-methylenetetrahydrofolate reductase(MTHFR)  Gene polymorphism  Han nationality  Acute coronary syndrome(ACS)  Correlation