Jin-Yu Zhang, Qian Zhao, Xiao-Mei Li, Fen Liu, Qiang Zhao, Li Men, Qing-Jie Chen, Hui Zhai, Yi-Ning Yang
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引用次数: 0
Abstract
Objective: Coronary artery disease (CAD) is a the most common type of heart disease, and is associated with the highest mortality rate. The role of the β3-adrenergic receptor gene (ADRB3) in energy homeostasis and lipolysis suggests that it may be associated with obesity, insulin resistance, diabetes, and hypertension. Herein, we sought to examine the relationship between CAD and variants of the ADRB3 gene in individuals with Han and Uygur ethnicities in China. Methods: All 1022 participants were genotyped for two ADRB3 single nucleotide polymorphisms (SNPs; rs1892818 and rs9693898) using real-time polymerase chain reaction (TaqMan). Uygur (259 CAD patients, 161 control group) and Han (308 CAD patients, 294 control group) were included in two case-control studies. We subsequently developed a predictive model using ADRB3 genetic variation and clinical variables to predict risk of CAD. Results: The rs1892818 CT genotype (8.5% vs 3.9%, p = 0.019) and T allele (4.3% vs 1.9%, p = 0.021) were more frequently detected in the control subjects compared to CAD patients of the Han population but not in the Uygur population. The rs9693898 was not associated with CAD in either ethnic population. Logistic regression analysis further demonstrated that carriers of the rs1892818 CT genotype had a lower risk of CAD than did those with the CC genotype (CT vs CC, p = 0.044, odds ratio [OR] = 0.441, 95% confidence interval [CI]: 0.199-0.976). Using this data, we constructed a predictive nomogram model for CAD with an area under the curve (95% CI) of 0.722 (0.682, 0.761). Conclusions: Our results suggest that rs1892818 is associated with CAD in the Han population and that the CT genotype of rs1892818 may serve as a protective factor for CAD in Han individuals. The proposed nomograms can be used for the prediction of CAD in this population.
目的:冠状动脉疾病(CAD)是一种最常见的心脏病,也是死亡率最高的疾病。β3-肾上腺素能受体基因(ADRB3)在能量稳态和脂肪分解中的作用表明,它可能与肥胖、胰岛素抵抗、糖尿病和高血压有关。在此,我们试图研究中国汉族和维吾尔族个体中CAD与ADRB3基因变异之间的关系。方法:所有1022名参与者对两个ADRB3单核苷酸多态性(snp)进行基因分型;rs1892818和rs9693898),采用实时聚合酶链反应(TaqMan)。两项病例对照研究分别纳入维吾尔族(259例CAD患者,161例对照组)和汉族(308例CAD患者,294例对照组)。随后,我们开发了一个使用ADRB3遗传变异和临床变量预测CAD风险的预测模型。结果:与汉族冠心病患者相比,对照组的rs1892818 CT基因型(8.5% vs 3.9%, p = 0.019)和T等位基因(4.3% vs 1.9%, p = 0.021)的检出率更高,而维吾尔族冠心病患者的检出率较低。rs9693898在两种人种中均与CAD无关。Logistic回归分析进一步表明,rs1892818 CT基因型携带者患CAD的风险低于CC基因型携带者(CT vs CC, p = 0.044,优势比[OR] = 0.441, 95%可信区间[CI]: 0.199 ~ 0.976)。利用这些数据,我们构建了CAD的预测nomogram模型,曲线下面积(95% CI)为0.722(0.682,0.761)。结论:我们的研究结果表明rs1892818与汉族人群的CAD相关,rs1892818的CT基因型可能是汉族人群CAD的保护因素。所提出的模态图可用于预测该人群的CAD。
期刊介绍:
Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results.
Genetic Testing and Molecular Biomarkers coverage includes:
-Diagnosis across the life span-
Risk assessment-
Carrier detection in individuals, couples, and populations-
Novel methods and new instrumentation for genetic testing-
Results of molecular, biochemical, and cytogenetic testing-
Genetic counseling