对氧磷酶1基因多态性与海南地区颈动脉斑块合并脑梗死患者的关系分析
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摘要
目的:探讨对氧磷酶1(PON1)基因遗传多态性与海南地区颈动脉斑块稳定性合并脑梗死的关系,为脑梗死预警体系的构建提供数据。方法:选择2015～2018年12月在海南某院进行体检的海南地区颈动脉斑块合并脑梗死患者277例作为实验组,363例未发生脑梗死患者作为对照组。分析临床资料,采集两组患者外周血DNA,利用飞行质谱法进行基因分型。结果:rs3917538可检测出AA、AG、GG三种基因型,对照组中3种基因型的分布频率符合Hardy-Weinberg equilibrium。AA、AG、GG在对照组中的分布频率为97(26.7%)、175(48.2%)、91(25.1%),在实验组中的分布频率为76(27.4%)、136(49.1%)、65(23.5%),共显性模型、显性模型、隐性模型3种检测方法组间比较,差异均无统计学意义(P>0.05)。等位基因A、G的组间分布频率比较,差异无统计学意义(P>0.05)。结论:对氧磷酶1基因rs3917538多态性与海南地区颈动脉斑块的形成及脑梗死无明显关系,需补充样本量,增加更多的SNP研究位点进行深入研究,有望进一步揭示PON1与海南地区颈动脉斑块合并脑梗死的关系。
Objective: To investigate the effect of paraoxonase 1 gene polymorphism on carotid plaque stability with cerebral infarction in Hainan population. Methods:277 patients of caroticl plaque with cerebral infarction who underwent physical examination in a hospital in Hainan from 2015 to December 2018 were selected as the experimental group and 363 people who no cerebral infarctionas the control group. The clinical data were analyzed. DNA was collected from peripheral blood of two groups of patients and genotyped by flight mass spectrometry. Results:The genotypes of AA, AG and GG could be detected by rs3917538. The distribution frequencies of the three genotypes in the control group accorded with Hardy-Weinberg equilibrium. The distribution frequencies of AA, AG and GG in the control group were 97(26.7%), 175(48.2%) and 91(25.1%) respectively. In the experimental group, the distribution frequencies were 76(27.4%), 136(49.1%) and 65(23.5%). There were no statistical differences among the three detection methods of co-dominant model, dominant model and recessive model(all P>0.05). There was no difference in the frequency of allele A and G between groups(P>0.05). Conclusion:The polymorphism of paraoxonase 1 gene rs3917538 has no significant effect on carotid plaque formation and cerebral infarction in Hainan population.Supplementary sample size to add more SNP research sites for further study,It is expected to further revral the relationship between PON1 and carotial piaque complicatecl with cerebral infarction in Hainan.
Objective: To investigate the effect of paraoxonase 1 gene polymorphism on carotid plaque stability with cerebral infarction in Hainan population. Methods:277 patients of caroticl plaque with cerebral infarction who underwent physical examination in a hospital in Hainan from 2015 to December 2018 were selected as the experimental group and 363 people who no cerebral infarctionas the control group. The clinical data were analyzed. DNA was collected from peripheral blood of two groups of patients and genotyped by flight mass spectrometry. Results:The genotypes of AA, AG and GG could be detected by rs3917538. The distribution frequencies of the three genotypes in the control group accorded with Hardy-Weinberg equilibrium. The distribution frequencies of AA, AG and GG in the control group were 97(26.7%), 175(48.2%) and 91(25.1%) respectively. In the experimental group, the distribution frequencies were 76(27.4%), 136(49.1%) and 65(23.5%). There were no statistical differences among the three detection methods of co-dominant model, dominant model and recessive model(all P>0.05). There was no difference in the frequency of allele A and G between groups(P>0.05). Conclusion:The polymorphism of paraoxonase 1 gene rs3917538 has no significant effect on carotid plaque formation and cerebral infarction in Hainan population.Supplementary sample size to add more SNP research sites for further study,It is expected to further revral the relationship between PON1 and carotial piaque complicatecl with cerebral infarction in Hainan.
引文
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9 吴晓燕,张光宇,王扬淦,PON1功能活性在糖尿病合并大血管病变中的预测价值以及多种危险因素对其影响[J].现代中西医结合杂志,2018,27(4):433-435.
10 阴文丽.对氧磷酶1(PON1)及其基因多态性与动脉粥样硬化的关系[J].中国心血管病研究,2014,12(1):67-69.
11 Serre D,Gurd S,Ge B,et al.Differential allelic expression in the human genome:a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.PLoS Genet,2008,4(2):e1000006.
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13 Martínez-Quintana E,Rodríguez-González F,Medina-Gil JM,et al.Paraoxonase 1 (Q192R) gene polymorphism,coronary heart disease and the risk of a new acute coronary event[J].Clin Investig Arterioscler,2017,29(1):1-6.
14 Mero?倞o T,Dauteuille C,Tetzlaff W,et al.Oxidative stress,HDL functionality and effects of intravenous iron administration in women with iron deficiency anemia[J].Clin Nutr,2017,36(2):552-558.
15 Chistiakov DA,Melnichenko AA,Orekhov AN,et al.Paraoxonase and atherosclerosis-related cardiovascular diseases[J].Biochimie,2017,132:19-27.
16 Zhang G,Li W,Li Z,et al.Association between paraoxonase gene and stroke in the Han Chinese population[J].BMC Med Genet,2013,14(1):1-10.
2 陈潇祎,庄仲,赵锡海.颈动脉粥样硬化斑块进展与脑缺血事件相关性的影像学研究进展[J].中国卒中杂志,2017,12(6):538-543.
3 支春妹,蔡凤英,颈动脉粥样硬化斑块超声特征对脑梗塞的预测价值分析[J].现代医用影像学,2019,28(2):350-351.
4 孙伟,喻国栋,李长城,等.颈内动脉狭窄伴粥样硬化斑块DSA和MRI比较[J].齐齐哈尔医学院学报,2017,38(11):1279-1281.
5 郝阳,郭晓辰,张军平.氧化应激和自噬在动脉粥样硬化中的作用研究新进展[J].中国动脉硬化杂志,2017,25(4):404-410.
6 李顺钧,王慧,浦苏颖,等.急性脑梗死患者血清ox-LDL、Hcy、LDL水平变化及检测意义[J].陕西医学杂志,2019,48(5):664-670。
7 肖建群,陈薇,喻红,等.动脉粥样硬化患者高密度脂蛋白的抗氧化作用[J].医学新知杂志,2017,27(2):127-129,133.
8 张云霞,周代锋,王颖,等.CETP基因1405V多态性与海南百岁人群长寿的相关性[J].中国老年学杂志,2011,31(16):3011-3013.
9 吴晓燕,张光宇,王扬淦,PON1功能活性在糖尿病合并大血管病变中的预测价值以及多种危险因素对其影响[J].现代中西医结合杂志,2018,27(4):433-435.
10 阴文丽.对氧磷酶1(PON1)及其基因多态性与动脉粥样硬化的关系[J].中国心血管病研究,2014,12(1):67-69.
11 Serre D,Gurd S,Ge B,et al.Differential allelic expression in the human genome:a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.PLoS Genet,2008,4(2):e1000006.
12 国家卫生计生委脑卒中防治工程委员会.中国脑卒中血管超声检查指导规范[J].中华医学超声杂志(电子版).2015,12(8):599-610.
13 Martínez-Quintana E,Rodríguez-González F,Medina-Gil JM,et al.Paraoxonase 1 (Q192R) gene polymorphism,coronary heart disease and the risk of a new acute coronary event[J].Clin Investig Arterioscler,2017,29(1):1-6.
14 Mero?倞o T,Dauteuille C,Tetzlaff W,et al.Oxidative stress,HDL functionality and effects of intravenous iron administration in women with iron deficiency anemia[J].Clin Nutr,2017,36(2):552-558.
15 Chistiakov DA,Melnichenko AA,Orekhov AN,et al.Paraoxonase and atherosclerosis-related cardiovascular diseases[J].Biochimie,2017,132:19-27.
16 Zhang G,Li W,Li Z,et al.Association between paraoxonase gene and stroke in the Han Chinese population[J].BMC Med Genet,2013,14(1):1-10.