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一种包含基因多态性的列线图模型,用于预测孕妇肺栓塞风险

A Nomogram Model Containing Genetic Polymorphisms to Predict Risk of Pulmonary Embolism in Pregnant Women.

作者信息

Sun Huiqin, Zhou Lu, Lu Yihan, Li Yingchuan, Huo Yan, Huang Weifeng

机构信息

Department of Anesthesiology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.

Department of Epidemiology, Ministry of Education Key Laboratory of Public Health Safety, School of Public Health, Fudan University, Shanghai, People's Republic of China.

出版信息

Int J Womens Health. 2024 Sep 17;16:1505-1516. doi: 10.2147/IJWH.S470644. eCollection 2024.

DOI:10.2147/IJWH.S470644
PMID:39309200
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11416119/
Abstract

INTRODUCTION

Pulmonary embolism (PE), the most serious presentation of venous thromboembolism (VTE), is associated with a high rate of mortality and expense. Clinical studies on pregnant women with PE are scarce. The aim of this study was to analyze the clinical impact of fibrinolytic enzyme activation inhibitor-1 (PAI-1) 4G/5G genetic polymorphisms, methylenetetrahydrofolate reductase (MTHFR) rs1801131 (A1298C) and rs1801133 (C677T) genetic polymorphisms, and establish a predictive model for pregnant women.

MATERIAL AND METHODS

Between September 2022 and August 2023, 53 pregnant women with PE were enrolled. Using the propensity score matching method, 106 consecutive pregnant women without VTE were 1:2 matched. The relevant patient data were collected, and the susceptibility genes for PE were detected to determine genetic polymorphisms, and PE susceptibility in pregnant women, as well as to develop predictive models.

RESULTS

Our study showed that 4G/4G homozygous mutations increased the risk of pregnant PE fourfold (OR = 4.46, 95% CI = 1.59-12.50, P = 0.004), whereas the 4G allele mutation increased the risk twofold (OR = 2.33, 95% CI = 1.35-4.04, P = 0.002). A nomogram was established to predict the risk of pregnant women with PE by four predictive features including PAI-1 genetic polymorphisms, international normalized ratio (INR), antithrombin-III (AT-III) activity, and platelet count (PLT). The area under the curve (AUC) of the nomogram was 0.821 (0.744-0.898). The AUC of the internal validation group was 0.822 (0.674-0.971). Decision curve analysis revealed that the nomogram has a higher net benefit in the following threshold: probability interval of ≥15%.

CONCLUSION

The PAI-1 4G/4G genotype is an independent risk factor for pregnant women with PE; furthermore, the presence of the 4G allele can increase the risk of PE. The study established a nomogram to predict the risk of PE in pregnant women.

摘要

引言

肺栓塞(PE)是静脉血栓栓塞症(VTE)最严重的表现形式,与高死亡率和高费用相关。关于患有PE的孕妇的临床研究很少。本研究的目的是分析纤溶酶激活抑制剂-1(PAI-1)4G/5G基因多态性、亚甲基四氢叶酸还原酶(MTHFR)rs1801131(A1298C)和rs1801133(C677T)基因多态性对孕妇的临床影响,并建立预测模型。

材料与方法

2022年9月至2023年8月,纳入53例患有PE的孕妇。采用倾向评分匹配法,按1:2比例匹配106例连续无VTE的孕妇。收集相关患者数据,检测PE的易感基因以确定基因多态性,以及孕妇的PE易感性,并建立预测模型。

结果

我们的研究表明,4G/4G纯合突变使孕妇发生PE的风险增加四倍(OR = 4.46,95%CI = 1.59 - 12.50,P = 0.004),而4G等位基因突变使风险增加两倍(OR = 2.33,95%CI = 1.35 - 4.04,P = 0.002)。通过包括PAI-1基因多态性、国际标准化比值(INR)、抗凝血酶III(AT-III)活性和血小板计数(PLT)在内的四个预测特征建立了列线图,以预测患有PE的孕妇的风险。列线图的曲线下面积(AUC)为0.821(0.744 - 0.898)。内部验证组的AUC为0.822(0.674 - 0.971)。决策曲线分析显示,列线图在以下阈值下具有更高的净效益:概率区间≥15%。

结论

PAI-1 4G/4G基因型是患有PE的孕妇的独立危险因素;此外,4G等位基因的存在会增加PE的风险。该研究建立了列线图以预测孕妇发生PE的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b19d/11416119/e182904f7655/IJWH-16-1505-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b19d/11416119/4841c4e87a00/IJWH-16-1505-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b19d/11416119/e182904f7655/IJWH-16-1505-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b19d/11416119/4841c4e87a00/IJWH-16-1505-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b19d/11416119/e182904f7655/IJWH-16-1505-g0002.jpg

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