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Construction method of pulmonary thromboembolism risk prediction model based on single nucleotide polymorphism, SNP locus combination and application

A single nucleotide polymorphism, risk prediction technology, applied in the field of disease detection, can solve the problems of different distribution, not identical, not suitable for Han patients, etc., to achieve high accuracy, reduce incidence and mortality, and improve medical care. quality effect

Active Publication Date: 2021-03-26
CHINA JAPAN FRIENDSHIP HOSPITAL +1
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  • Claims
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Problems solved by technology

Moreover, the distribution of some polymorphic sites in different races is different, and most of the previous related research was done in the Caucasian population, because the gene frequencies of the two races are not exactly the same, the results of the study may not be applicable in Han patients

Method used

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  • Construction method of pulmonary thromboembolism risk prediction model based on single nucleotide polymorphism, SNP locus combination and application
  • Construction method of pulmonary thromboembolism risk prediction model based on single nucleotide polymorphism, SNP locus combination and application
  • Construction method of pulmonary thromboembolism risk prediction model based on single nucleotide polymorphism, SNP locus combination and application

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Embodiment 1

[0061] Embodiment 1: The construction method of the pulmonary thromboembolism risk prediction model of the present invention, such as figure 1 shown, including the following specific steps:

[0062] S1. Sample collection and genetic testing:

[0063] (1-1) 1237 pulmonary embolism cases (cases) were recruited from the China Pulmonary Thromboembolism Registry Study (CURES), and the informed consent of all study participants and the approval of the Ethics Committee of the China-Japan Friendship Hospital were obtained. Referring to the structural information of the case group, such as age, gender and ancestry, 3873 healthy individuals were randomly selected from the WeGene database as controls. During the specific implementation, it is required that the structural information such as age, gender, and blood of the two groups of recruited subjects match, and both come from the Chinese Han population.

[0064] (1-2) Collect peripheral blood samples from recruiters, extract DNA, and...

Embodiment 2

[0091] Example 2: Regarding the construction method of the pulmonary thromboembolism risk prediction model of the present invention and the application of the combination of SNP sites, for example, to perform PTE risk prediction for a certain clinical patient, it will be implemented according to the following steps:

[0092] (a) The peripheral venous blood of the patient is collected, and the blood is anticoagulated.

[0093] (b) Extracting genomic DNA from the collected peripheral blood, and performing quality inspection and concentration determination.

[0094] (c) After passing the quality inspection, the detection of genetic susceptibility loci can be carried out. The detection method can use gene chips or next-generation sequencing. The detection content is the combination of 48 VET susceptibility SNP loci shown in Table 1. This step can realize the Genotyping for susceptibility loci.

[0095] (d) According to the regression model constructed in Example 1, the regression...

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Abstract

The invention discloses a construction method of a pulmonary thromboembolism risk prediction model based on single nucleotide polymorphism, an SNP locus combination and application. The construction method of the prediction model comprises the following specific steps of S1, carrying out sample collection and gene detection; S2, carrying out data quality control and whole genome association analysis (GWAS); S3, carrying out meta analysis by combining the genome data of an external population; S4, screening an SNP locus combination with a prediction value; and S5, building a regression model, and carrying out training and testing. According to the prediction model, 48 SNP site combinations are obtained, at least one SNP site combination can be applied to pulmonary thromboembolism risk assessment or screening products, pulmonary thromboembolism risk prediction of Asian people, especially Chinese people can be achieved, and the detection method is simple, convenient and easy to implementand convenient to use clinically.

Description

technical field [0001] The present invention relates to a method for constructing a risk prediction model of pulmonary thromboembolism based on single nucleotide polymorphism, combination and application of SNP sites, in particular to single nucleotide polymorphism sites related to pulmonary thromboembolism and Its use in risk prediction belongs to the technical field of disease detection. Background technique [0002] Pulmonary thromboembolism (PTE) is a disease in which venous thrombosis blocks the pulmonary artery or its branches, causing pulmonary circulation disturbance, and has a potentially fatal risk. PTE is common in hospitalized patients with high morbidity and mortality. Risk factors leading to PTE mainly include infection, fracture / trauma, smoking, malignant tumor, obesity, pregnancy, etc. The onset of PTE is hidden, and the clinical manifestations of most PTE patients (such as chest tightness, breathlessness, cough, shortness of breath, lower extremity edema, ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6837C12N15/11
CPCC12Q1/6883C12Q1/6837C12Q2600/156
Inventor 翟振国张竹翁昊艺王理中庞文翼唐森威张萌陈钢王辰
Owner CHINA JAPAN FRIENDSHIP HOSPITAL
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