作者：宋星明，帕丽达·阿布来提，哈力沙·艾日肯江，迪丽胡玛尔·阿布来提，高颖

单位：

新疆医科大学第一附属医院综合内三科

Units：

The Third Department of General Internal Medicine, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China

关键词：

冠心病; 内皮脂肪酶; rs2000813; 基因多态性;

Keywords：

Coronary disease; Endothelial lipase; rs2000813; Gene polymorphism

CLC：

DOI：

10.12114/j.issn.1008-5971.2023.00.111

Funds：

自治区科技支疆项目计划（指令性）项目（2020E02131）

摘要：

目的 分析内皮脂肪酶(EL)基因rs2000813位点多态性与冠心病(CHD)的关系。方法 选取2019—2021年于新疆医科大学第一附属医院行冠状动脉造影检查的CHD患者903例为病例组。选取同期于新疆医科大学第一附属医院经冠状动脉造影或冠状动脉CTA检查确诊的非CHD(神经官能症、肋间神经炎等非心源性胸痛疾病)患者628例为对照组。比较两组一般资料、生化指标，采用Hardy-Weinberg遗传平衡检验评估研究群体遗传平衡状态；比较两组及两组不同性别患者EL基因rs2000813位点基因型及等位基因频率；女性疑似CHD患者发生CHD的影响因素分析采用多因素Logistic回归分析，绘制ROC曲线以评估EL基因rs2000813位点CT基因型及其联合其他影响因素对女性疑似CHD患者发生CHD的预测效能。结果 病例组男性占比、有吸烟史者占比、有饮酒史者占比、高血压发生率、糖尿病发生率、BMI、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白B(Apo-B)高于对照组，高密度脂蛋白胆固醇(HDL-C)、载脂蛋白A(Apo-A)低于对照组(P<0.05)。Hardy-Weinberg遗传平衡检验结果显示，对照组、病例组EL基因rs2000813位点基因型分布及等位基因频率均符合Hardy-Weinberg遗传平衡定律(χ2值分别为0.681、0.469,P值分别为0.630、0.685)。两组EL基因rs2000813位点基因型及等位基因频率比较，差异无统计学意义(P>0.05)。两组男性患者EL基因rs2000813位点基因型及等位基因频率比较，差异无统计学意义(P>0.05)。病例组女性患者EL基因rs2000813位点CC基因型占比低于对照组，CT基因型占比高于对照组(P<0.05)。多因素Logistic回归分析结果显示，高血压、糖尿病、BMI、TC、HDL-C、Lp-a、EL基因rs2000813位点基因型为女性疑似CHD患者发生CHD的影响因素(P<0.05)。ROC曲线分析结果显示，EL基因rs2000813位点CT基因型及其联合其他影响因素(高血压、糖尿病、BMI、TC、HDL-C、Lp-a)预测女性疑似CHD患者发生CHD的AUC分别为0.554[95%CI(0.508,0.600)]、0.770[95%CI(0.732,0.808)]。结论 EL基因rs2000813位点多态性与疑似CHD患者发生CHD可能无关，且与男性疑似CHD患者发生CHD可能无关；而EL基因rs2000813位点CT基因型是女性疑似CHD患者发生CHD的危险因素，且其联合其他影响因素(高血压、糖尿病、BMI、TC、HDL-C、Lp-a)对女性疑似CHD患者发生CHD具有一定预测效能。

Abstract：

Objective To analyze the relationship between polymorphism of rs2000813 locus of endothelial lipase (EL) gene and coronary heart disease (CHD) . Methods A total of 903 patients with CHD who underwent coronary angiography in the First Affiliated Hospital of Xinjiang Medical University from 2019 to 2021 were selected as the case group. And 628 patients with non-CHD (neurosis, intercostal neuritis and other non-cardiogenic chest pain diseases) confirmed by coronary angiography or coronary CTA in the First Affiliated Hospital of Xinjiang Medical University at the same time were selected as the control group. The general data and biochemical indexes were compared between the two groups, and Hardy-Weinberg genetic balance test was used to evaluate the genetic balance status of the study population. The genotype and allele frequency of rs2000813 locus of EL gene were compared between the two groups. The genotype and allele frequency of rs2000813 locus of EL gene in patients with different sex were compared between the two groups. Multivariate Logistic regression analysis was used to analyze the influencing factors of CHD in female patients with suspected CHD. The ROC curve was drawn to evaluate the predictive effectiveness of the CT genotype at rs2000813 locus of EL gene and its combination with other influencing factors on the occurrence of CHD in female patients with suspected CHD. Results The male proportion, the proportion of patients with smoking history, the proportion of patients with drinking history, the incidence of hypertension, the incidence of diabetes, BMI, total cholesterol (TC) , low density lipoprotein cholesterol cholesterol (LDL-C) , apolipoprotein B (Apo-B) in the case group were higher than those in the control group, while high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A (Apo-A) were lower than those in the control group (P < 0.05) . The results of Hardy-Weinberg genetic balance test showed that the genotype distribution and allele frequency of rs2000813 locus of EL gene in control group and case group were consistent with Hardy-Weinberg genetic balance law（χ2 values were 0.681 and 0.469 respectively, and P values were 0.630 and 0.685 respectively) . There was no statistically significant difference in genotype and allele frequency of rs2000813 locus of EL gene between the two groups (P > 0.05) . There was no significant difference in the genotype and allele frequency of rs2000813 locus of EL gene in male patients between the two groups (P > 0.05) . The proportion of CC genotype of rs2000813 locus of EL gene in female patients in the case group was lower than that in the control group, and the proportion of CT genotype was higher than that in the control group (P < 0.05) . Multivariate Logistic regression analysis showed that hypertension, diabetes, BMI, TC, HDL-C, Lp-a, and genotype of rs2000813 locus of EL gene were the influencing factors of CHD in female patients with suspected CHD (P < 0.05) . ROC curve analysis showed that the AUC of CT genotype of rs2000813 locus of EL gene and its combination with other influencing factors (hypertension, diabetes, BMI, TC, HDL-C, Lp-a) in predicting CHD in female patients with suspected CHD were 0.554 [95%CI (0.508, 0.600) ] and 0.770 [95%CI (0.732, 0.808) ] , respectively. Conclusion Polymorphism of rs2000813 locus of EL gene may not be related to the occurrence of CHD in patients with suspected CHD and male suspected CHD. While CT genotype of rs2000813 locus of EL gene is a risk factor for CHD in female patients with suspected CHD, and its combination with other influencing factors (hypertension, diabetes, BMI, TC, HDL-C, Lp-a) has a certain predictive effectiveness on CHD in female patients with suspected CHD.

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