作者：热洋尼沙·卡的，高颖，沙吉旦·阿不都热衣木，吕茂林

单位：

830011新疆维吾尔自治区乌鲁木齐市，新疆医科大学第一附属医院综合内三科

单位（英文）：

Third Department of General Internal Medicine, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830011, China

关键词：

冠心病；SMARCA4基因；rs1122608位点；新疆维吾尔自治区；疾病易感性

关键词（英文）：

Coronary disease; SMARCA4 gene; rs1122608 locus; Xinjiang; Disease susceptibility

中图分类号：

R 541.4

DOI：

10.12114/j.issn.1008-5971.2024.00.036

基金项目：

新疆维吾尔自治区科学技术厅“天山英才”培养计划项目（2022TSYCLJ0023）

摘要：

目的　分析SMARCA4基因rs1122608位点多态性与新疆地区人群冠心病（CHD）易感性的关系。方 法　选取2017—2019年就诊于新疆医科大学第一附属医院心脏中心的CHD患者959例为CHD组。选取同期就诊于新疆 医科大学第一附属医院心脏中心的非CHD患者924例为对照组，其中心脏神经官能症437例、高血压357例、肺动脉高 压85例、心脏瓣膜病45例。收集患者一般资料、实验室检查指标，检测患者SMARCA4基因rs1122608位点基因型及 等位基因。采用Hardy-Weinberg遗传平衡检验评估样本的群体代表性；采用非条件二元Logistic回归分析探讨CHD的 影响因素。结果　CHD组吸烟者占比、有高血压者占比、有糖尿病者占比、总胆固醇（TC）、低密度脂蛋白胆固醇 （LDL-C）、载脂蛋白B（ApoB）、脂蛋白a〔Lp（a）〕、空腹血糖高于对照组，高密度脂蛋白胆固醇（HDL-C）低 于对照组（P＜0.05）。Hardy-Weinberg遗传平衡检验结果显示，对照组和CHD组SMARCA4基因rs1122608位点的基因 型分布均符合Hardy-Weinberg遗传平衡（P＞0.05）。两组SMARCA4基因rs1122608位点基因型、等位基因频率比较， 差异无统计学意义（P＞0.05）。非条件二元Logistic回归分析结果显示，吸烟、高血压、Lp（a）升高、空腹血糖升高 是CHD的独立危险因素，HDL-C升高是CHD的独立保护因素（P＜0.05）；SMARCA4基因rs1122608位点基因型不是 CHD的影响因素（P＞0.05）。结论　SMARCA4基因rs1122608位点多态性与新疆地区人群CHD易感性无关。

英文摘要：

Objective To analyze the relationship between polymorphisms of SMARCA4 gene rs1122608 locus and susceptibility to coronary heart disease (CHD) in Xinjiang population. Methods A total of 959 CHD patients admitted to the Heart Center of the First Affiliated Hospital of Xinjiang Medical University from 2017 to 2019 were selected as the CHD group. A total of 924 non-CHD patients admitted to the Heart Center of the First Affiliated Hospital of Xinjiang Medical University during the same period were selected as the control group, including 437 cases of cardiac neurosis, 357 cases of hypertension, 85 cases of pulmonary hypertension and 45 cases of valvular heart disease. General data and laboratory test indicators of patients were collected, and genotypes and alleles of rs1122608 locus of SMARCA4 gene were detected. Hardy-Weinberg genetic balance test was used to evaluate the population representation of the samples. The influencing factors of CHD were investigated by unconditioned binary Logistic regression analysis. Results The proportion of smokers, hypertension and diabetes, total cholesterol (TC) , low density lipoprotein cholesterol (LDL-C) , apolipoprotein B (ApoB) , lipoprotein (a) [Lp (a) ] and fasting blood glucose in CHD group were higher than those in control group, and high density lipoprotein cholesterol (HDL-C) was lower than that in control group (P < 0.05) . The results of Hardy-Weinberg genetic balance test showed that the genotype distribution of rs1122608 locus of SMARCA4 gene in both control group and CHD group was consistent with Hardy-Weinberg genetic balance (P > 0.05) . There was no statistically significant difference in the genotype and allele frequency of the rs1122608 locus of the SMARCA4 gene between the two groups (P > 0.05) . The results of unconditional binary Logistic regression analysis showed that smoking, hypertension, elevated Lp (a) , and elevated fasting blood glucose were independent risk factors for CHD, while elevated HDL-C was an independent protective factor for CHD ( P < 0.05) ; the genotype of rs1122608 locus of SMARCA4 gene was not an influencing factor for CHD (P > 0.05) . Conclusion The polymorphism of rs1122608 locus of SMARCA4 gene is not associated with susceptibility to CHD in the population of Xinjiang region.

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