PCSK9基因E670G位点多态性与冠心病及血脂水平的相关性研究

The Correlation between PCSK9 Gene E670G Locus and Coronary Heart Disease and Lipid Metabolism

目的探讨人枯草溶菌素转化酶(PCSK)9基因E670G位点多态性与冠心病及血脂代谢的相关性,并尝试为冠心病痰瘀互结证的辨证提供微观依据。方法收集2021年1月—2022年2月我院住院病人99例,其中,冠心病病人71例作为病例组,同期住院非冠心病病人28例作为对照组。所有病人均通过聚合酶链式反应(PCR)及质谱分析(ABI3730-XL)检测PCSK9基因E670G位点的基因型。先通过Hardy-Weinberg遗传平衡定律进一步检验群体代表性,进一步评估基因多态性与冠心病发病之间的关系。结果病例组和对照组PCSK9基因E670G位点的AA、AG基因型频率分布差异无统计学意义(P>0.05)。两组A、G等位基因频率的分布差异无统计学意义(P>0.05)。病例组AA型高密度脂蛋白胆固醇(HDL-C)水平高于AG型,但AG型总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)水平高于AA型。病例组痰瘀互结证病人的HDL-C水平低于非痰瘀互结证。结论本研究发现PCSK9基因E670G位点多态性与冠心病发病无明显关联,但与血脂水平相关,其中AG型基因突变可能是冠心病的危险基因型。

Objective To investigate the correlation between polymorphisms of human subtitling lysin convertase(PCSK)9 gene E670G locus and coronary heart disease(CHD)and lipid metabolism,and to provide a microscopic basis for the syndrome differentiation of phlegm-stasis interaction in CHD.Methods A total of 99 inpatients were enrolled in our hospital from January 2021 to February 2022,including 71 CHD patients as the patient group and 28 non-CHD patients as the control group.The genotype of E670G locus of PCSK9 gene in all patients was detected by polymerase chain reaction(PCR)and mass spectrometry(ABI3730-XL).Population representation was further tested by Hardy-Weinberg genetic balance law to further evaluate the relationship between gene polymorphism and the incidence of CHD.Results There was no significant difference in the frequency distribution of AA and AG genotypes at E670G locus of PCSK9 gene between patient group and control group(P>0.05).There was no significant difference in the distribution of A and G allele frequencies between two groups(P>0.05).In patient group,the average high density lipoprotein cholesterol(HDL-C)level of AA type was higher than that of AG type,but the average total cholesterol(TC),triacylglycerol(TG),and low density lipoprotein cholesterol(LDL-C)level of AG type was higher than that of AA type.The average level of HDL-C in patients with phlegm-stasis interaction syndrome was lower than that of patients without phlegm-stasis interaction syndrome in patient group.Conclusion In this study,the polymorphism of E670G locus of PCSK9 gene is not significantly associated with the incidence of CHD,but it is related with the level of blood lipid,and the AG gene mutation may be a risk genotype of CHD.