家族性高胆固醇血症患者基因风险评分与心血管疾病的相关性

Relationship between Genetic Risk Score and Cardiovascular Disease in Patients with Familial Hypercholesterolemia

目的探究家族性高胆固醇血症(FH)患者基因风险评分与心血管疾病(CVD)的相关性。方法选取2016年1月-2019年6月在新疆生产建设兵团医院诊断及就诊的FH患者199例,根据是否合并心血管疾病分为观察组(n=43)与对照组(n=156),对比一般资料及血脂水平,包括:伴随疾病、吸烟史、家族CVD史、甘油三酯(TC)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C).低密度脂蛋白胆固醇(LDL-C),同时检测低密度脂蛋白受体(LDLR).,载脂蛋白B(ApoB)、枯草溶菌素转化酶(PCSK9)基因的风险评分,使用Spearman相关分析探究基因风险评分与LDL.-C水平的关系,使用Logistie回归分析CVD的独立危险因素。结果观察组的年龄、家族性心血管病史率显著高于附照组,观察组的TC(1=2.171,P=0.031)、TC(t=6.325,p=0.000)及LDL-C(1=6.890,P=0.000)水平显著高于对照组,HDL-C水平显著低于对照组(1=5.137,P=0.031);所有患者基因风险评分分布在1.25~2.25,中位分数1.90,观察组高基因风险比例显著高于对照组(81.40%vs 49.36%;χ^2=14.060,P=0.000).基因风险评分与LDL-C水平呈显著正相关(r=0.358,P=0.000)。多因索Logistie回归分析显示年龄(OR=1.369,P=0.001)、家族性心血管病史(OR=3.043,P=0.044)、LDL-C(OR=1.734,P=0.000)、高基因风险评分(OR=6.507,P=0.003)是心血管疾病发生的独立危险因素,HDL-C(OR=0.008,P=0.000)是心血管疾病的独立保护因素。结论FH患者基因风险评分与LDL-C水平呈显著正相关,高基因风险评分是CVD发生的独立危险因素。

Objective To explore the relationship between genetic risk score and cardiovascular disease(CVD)in patients with fa-milal hyperc holesterolemia.Methods From January 2016 to June 2019,199 FH patients diagnosed and admitted to Xinjiang production and Construction Corps Hospital were selected and divided into observation group(43 cases)and control group(156 cases)according to whether they were complicated with CVD.General information and lipid level were compared,including concomitant disease,smoking history,family history of CVD,triglyceride(TC),total cholesterol(TC),high-density lipoprotein(HDL-C),low-density lipoprotein(LDL-C),genetic risk score of low density lipoprotein receptor(LDLR),apolipoprotein B(ApoB)and subtilisin inverlase(PCSK9)genes were also detected.Spearman correlation analysis was used to explore the relationship between genetice risk score and LDL-C,and Logistic regression was used to analyze the independent risk factors of CVD.Results The age and family history of CVD in the observation group were signific antly higher than control group,TG(1=2.171,P=0.031),TC(t=6,325,P=0.000)and LDL-C(t=6.890,P=0.000)in the observation group were significantly higher than control group,and HDL-C(I=5.137,P=0.031)were significantly lower than control group.The genetie risk score of all patients ranged from 1.25 to 2.25,with a median score of 1.90,the proportion of patients with high genetic risk in the observation group was significanly higher than control group(81.40%vs 49.36%,χ^2=14.060,P=0.000),genetie risk score was positively correlated with LDL-C level(r=0.358,P=0.000).Multivariate Logistie regression analysis showed that age(OR=1.369,P=0.001),family history of CVD(OR=3.043,P=0.044),LDL.-C(OR=1.734,P=0.000),and high genetie risk score(OR=6.507,P=0.003)were independent risk factors for CVD,while HDL-C(OR=0.008,P=0.000)were independent protective factors for CVD.Conclusion The genetie risk score of FH patients was significantly positively correlated with LDL-C level,and the high genetie risk score was an independent risk factor for CVD.