氧化固醇结合蛋白相关蛋白-9基因多态性与脑梗死的相关性研究

Correlation of oxysterol binding protein related protein-9 gene polymorphism and cerebral infarction

目的研究氧化固醇结合蛋白相关蛋白-9(ORP-9)基因多态性与脑梗死的相关性,探讨其与高血压、颈动脉粥样硬化及血糖、血脂代谢的关系。方法以动脉粥样硬化血栓性和小动脉闭塞性脑梗死患者作为脑梗死组,另选年龄和性别匹配的健康者作为对照组,空腹静脉抽血,采用酚/氯仿法提取DNA,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测ORP9基因上rs856600 SNP位点的基因型及等位基因频率的分布情况,使用SPSS17.0软件分析该多态性与脑梗死发病血压、血脂、血糖及颈动脉粥样硬化等的相关性。结果 rs856600基因型及等位基因频率在脑梗死组和对照组之间以及动脉粥样硬化血栓形成型(AT组)、小动脉闭塞型(SAO组)和对照组之间分布差异无统计学意义(P>0.05),Logistic回归分析显示基因型与脑梗死无相关性(P>0.05);rs856600基因型及等位基因频率在脑梗死组和对照组各自的高血压亚组和非高血压亚组之间差异无统计学意义(P>0.05);rs856600多态位点基因型及等位基因频率在脑梗死组和对照组各自的糖尿病亚组和非糖尿病亚组之间差异无统计学意义(P>0.05);rs856600的T等位基因(CT+TT)携带者与CC基因型携带者相比,在脑梗死组和对照组中,血压、空腹血糖、三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)水平差异均无统计学意义(P>0.05);在脑梗死组动脉粥样硬化(AS)患者的易损斑块(VP)亚组中显著高于稳定斑块(SP)亚组(P<0.05)。结论 rs856600的T等位基因可能是中国汉族人群颈动脉易损斑块形成的一个危险因素,有进一步验证和研究的价值。

[ Objective ] To study the correlation of oxysterol binding protein related protein-9 gene polymorphism and cerebral infarction, and explore its relationship with essential hypertension, carotid atherosclerosis and blood glu- cose, lipid metabolism. [ Methods ] Atherothrombotie and arteriolar occlusive cerebral infarction patients were taken as cerebral infarction group, and another age- and sex-matched healthy subjects were taken as control group. Using fasting venous blood, DNA was isolated by phenol/chloroform extraction. The genotype and allele frequency distribu- tion of rs856600 SNP of ORP9 gene was detected by polymerase chain reaction restriction fragment length polymor- phism （PCR-RFLP） analysis. Correlation analysis between the polymorphisms and cerebral infarction and blood pressure, blood lipid, blood glucose, carotid atheroselerosis was performed using SPSS 17.0 software. [ Results ] The rs856600 genotype and allele frequencies between the cerebral infarction group and the control group as well as be- tween the atherothrombosis （AT） group, small artery occlusion （SAO） group and control group had no significant dif-ierence （P 〉 0.05）, logistic regression analysis showed that the genotype and cerebral infarction was not correlated （P 〉0.05）; there was no significant difference in rs856600 genotype and allele frequency between hypertension sub- group and non hypertension subgroup of scerebral infarction group and control group （P 〉 0.05）; rs856600 polymor- phism genotype and allele frequencies in diabetes and non diabetes mellitus subgroup of cerebral infarction group and control group had no significant difference （P 〉 0.05）; the T allele （CT＋TI＇） carriers compared with the CC geno- type carriers of rs856600, there were no significant differences in blood pressure, fasting blood glucose, TG, TC, HDL, LDL levels （P 〉 0.05） between the cerebral infarction group and control group, while they were significantly higher in AS VP subgroup than those in SP subgroup of patients with cerebral infarction （P 〈 0.05）. [ Conclusions ] The T allele of rs856600 may be a risk factor of the formation of carotid plaque vulnerability in Chinese Han popu- lation, which has the value for further validation and research.