[1]覃 凯,李成昊,蒋文洁,等.GTP环化水解酶1与冠状动脉性心脏病的关联及其转录表达水平[J].医学信息,2026,39(01):1-10.[doi:10.3969/j.issn.1006-1959.2026.01.001]
　QIN Kai,LI Chenghao,JIANG Wenjie,et al.Association of GTP Cyclohydrolase 1 with Coronary Artery Heart Diseaseand its Transcriptional Expression Level[J].Journal of Medical Information,2026,39(01):1-10.[doi:10.3969/j.issn.1006-1959.2026.01.001]
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GTP环化水解酶1与冠状动脉性心脏病的关联及其转录表达水平()

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
39卷
期数:
2026年01期
页码:
1-10
栏目:
生物信息学
出版日期:
2026-01-01

文章信息/Info

Title:
Association of GTP Cyclohydrolase 1 with Coronary Artery Heart Diseaseand its Transcriptional Expression Level
文章编号:
1006-1959（2026）01-0001-10
作者:
覃 凯1; 李成昊1; 2; 蒋文洁2; 陈 罡1; 2; 潘红波1; 2; 李明杰1; 2
1.广西医科大学第一附属医院病理科，广西 南宁 530021；2.广西医科大学第一临床医学院法医学系，广西 南宁 530021
Author(s):
QIN Kai1;  LI Chenghao1; 2;  JIANG Wenjie2;  CHEN Gang1; 2;  PAN Hongbo1; 2;  LI Mingjie1; 2
1.Department of Pathology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, China; 2.Department of Forensic Medicine, the First Clinical Medical College, Guangxi Medical University, Nanning 530021,Guangxi, China
关键词:
GTP环化水解酶1; 冠状动脉性心脏病; 孟德尔随机化法
Keywords:
GTP cyclohydrolase 1;  Coronary artery heart disease;  Mendelian randomization
分类号:
R543.3
DOI:
10.3969/j.issn.1006-1959.2026.01.001
文献标志码:
A
摘要:
目的 探讨GTP环化水解酶1（GCH1）与冠状动脉性心脏病（CHD）的因果联系及其转录表达水平。方法 通过孟德尔随机化（MR）法明确GCH1与CHD的因果联系。整合CHD相关多中心高通量数据，计算GCH1 mRNA表达水平标准化平均差（SMD），通过汇总受试者工作特征曲线，计算灵敏度、特异度、似然比等指标来评价GCH1在CHD中的临床应用价值。结果 正向MR法显示GCH1与CHD存在显著关联（OR=0.95，95%CI=0.91~0.99，P=0.021）；贝叶斯加权MR法支持此关联（OR=0.95，95%CI=0.91~0.99，P=0.025）；反向MR法显示GCH1与CHD不存在显著关联（OR=1.06，95%CI=0.99~1.13，P=0.104）。此外，本研究共纳入了676例CHD及459例正常对照样本。GCH1表达在CHD中显著下调，其SMD为-0.18（95%CI：-0.31~-0.06），汇总受试者工作特征曲线下面积为0.72（95%CI：0.67~0.75），灵敏度为0.61（95%CI：0.48~0.72），特异度为0.71（95%CI：0.62~0.79），阳性似然比为2.08（95%CI：1.72~2.52）、阴性似然比为0.56（95%CI：0.44~0.70）。结论 GCH1基因可能作为抑制因子，在抑制CHD进展过程发挥重要的作用。
Abstract:
Objective To investigate the causal relationship between GTP cyclohydrolase 1 (GCH1) and coronary artery heart disease (CHD) and its transcriptional expression level. Methods The causal relationship between GCH1 and CHD was determined by Mendelian randomization (MR). The standardized mean difference (SMD) of GCH1 mRNA expression level was calculated by integrating CHD-related multi-center high-throughput data. The clinical application value of GCH1 in CHD was evaluated by summarizing the receiver operating characteristic curve, calculating sensitivity, specificity, likelihood ratio and other indicators. Results Forward MR method showed that GCH1 was significantly associated with CHD (OR=0.95, 95%CI=0.91-0.99, P=0.021). Bayesian weighted MR method supported this association (OR=0.95, 95%CI=0.91-0.99, P=0.025). Backward MR method showed that there was no significant correlation between GCH1 and CHD (OR=1.06, 95%CI=0.99-1.13, P=0.104). In addition, a total of 676 CHD and 459 normal control samples were included in this study. The expression of GCH1 was significantly down-regulated in CHD, and its SMD was-0.18(95%CI: -0.31 to -0.06), the area under the summary receiver operating characteristic curve was 0.72(95%CI: 0.67-0.75), the sensitivity was 0.61(95%CI: 0.48-0.72), the specificity was 0.71(95%CI: 0.62-0.79), the positive likelihood ratio was 2.08(95%CI: 1.72-2.52), and the negative likelihood ratio was 0.56(95%CI: 0.44-0.70). Conclusion GCH1 gene may play an important role in inhibiting the progression of CHD as an inhibitor.

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更新日期/Last Update: 1900-01-01