Abulaiti Dilihumaer, Abudureyimu Shajidan, Li Hui, Cao Yan, Gao Ying
Department of Comprehensive Internal Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Department of Hepatobiliary and Pancreatic Surgery, Affiliated Cancer Hospital of Xinjiang Medical University, Urumqi, China.
Cardiovasc Diagn Ther. 2024 Feb 15;14(1):118-128. doi: 10.21037/cdt-23-289. Epub 2024 Jan 24.
The apolipoprotein A5 () gene has been identified as a key regulatory factor in triglyceride (TG) metabolism and plasma lipid levels. Genetic polymorphisms of have been linked to an elevated risk of atherosclerosis, metabolic syndrome, stroke, and coronary artery disease. The rs662799 variant is a single nucleotide polymorphism (SNP) that occurs at a specific position within the gene. However, the association between rs662799 polymorphism and essential hypertension (EHT) remains unclear. The study aimed to comprehensively examine the potential correlation between the rs662799 polymorphism and the susceptibility to EHT in a Chinese population using a systematic analysis.
In a case study conducted at the First Affiliated Hospital of Xinjiang Medical University between Jan 2019 and Dec 2021, we examined a total of 700 cases of EHT along with 700 corresponding controls. The serum concentrations of various lipid parameters were measured by enzymatic method, while the genotyping of the SNP was performed using the improved multiplex ligation detection reaction (iMLDR) method. The independent risk factors of EHT were identified from multivariable logistic regression analysis. The nomogram prediction model that incorporated the genetic variations and clinical variables was constructed. In addition, receiver operating characteristic (ROC) curve and Hosmer-Lemeshow test were conducted to determine the performance of the nomogram model. The optimal threshold was calculated based on Youden index.
Our study revealed a higher prevalence of the G allele of the rs662799 variant in individuals diagnosed with EHT compared to the control group. Logistic regression analysis indicated that with the adjustment of other confounders, the observed difference between the two groups remained statistically significant [odds ratio (OR) =1.519; 95% confidence interval (CI): 1.203-1.917; P<0.001]. Based on 8 independent risk factors including rs662799 G allele, age, body mass index (BMI), smoking, diabetes, education, low-density lipoprotein cholesterol (LDL-C), and TG, we constructed a novel risk evaluation nomogram of EHT. The area under the ROC curve of the nomogram was 0.722 (95% CI: 0.693-0.752; P0.001) and 0.747 (95% CI: 0.690-0.804; P0.001) for the training and validation set, respectively. Furthermore, the Hosmer-Lemeshow test indicated excellent calibration performance, yielding P values of 0.969 for the training set and 0.761 for the validation set.
In our study, the rs662799 variant of the gene was significantly associated with susceptibility to EHT. A nomogram for the early prediction of EHT in in the Chinese population was successfully constructed and validated. The nomogram can provide a visual assessment of the risk of EHT for clinical consultation.
载脂蛋白A5（）基因已被确定为甘油三酯（TG）代谢和血脂水平的关键调节因子。的基因多态性与动脉粥样硬化、代谢综合征、中风和冠状动脉疾病的风险升高有关。rs662799变异是一种单核苷酸多态性（SNP），发生在基因内的特定位置。然而，rs662799多态性与原发性高血压（EHT）之间的关联仍不清楚。本研究旨在通过系统分析全面探讨rs662799多态性与中国人群EHT易感性之间的潜在相关性。
在2019年1月至2021年12月于新疆医科大学第一附属医院进行的一项病例研究中，我们共检查了700例EHT病例以及700例相应对照。采用酶法测量各种血脂参数的血清浓度，同时使用改进的多重连接检测反应（iMLDR）方法对SNP进行基因分型。通过多变量逻辑回归分析确定EHT的独立危险因素。构建了包含基因变异和临床变量的列线图预测模型。此外，进行了受试者工作特征（ROC）曲线和Hosmer-Lemeshow检验以确定列线图模型的性能。基于约登指数计算最佳阈值。
我们的研究显示，与对照组相比，诊断为EHT的个体中rs662799变异的G等位基因患病率更高。逻辑回归分析表明，在调整其他混杂因素后，两组之间观察到的差异仍具有统计学意义[优势比（OR）=1.519；95%置信区间（CI）：1.203 - 1.917；P<0.001]。基于包括rs662799 G等位基因、年龄、体重指数（BMI）、吸烟、糖尿病、教育程度、低密度脂蛋白胆固醇（LDL-C）和TG在内的8个独立危险因素，我们构建了一种新的EHT风险评估列线图。列线图在训练集和验证集的ROC曲线下面积分别为0.722（95%CI：0.693 - 0.752；P0.001）和0.747（95%CI：0.690 - 0.804；P0.001）。此外，Hosmer-Lemeshow检验表明校准性能良好，训练集的P值为0.969，验证集的P值为0.761。
在我们的研究中，基因的rs662799变异与EHT易感性显著相关。成功构建并验证了中国人群EHT早期预测的列线图。该列线图可为临床咨询提供EHT风险的直观评估。
