Biomarkers for predicting venous thromboembolism genetic risk of Chinese Han population, kit and application thereof

Abstract

The invention provides a group of complete gene locus combinations for predicting the venous thromboembolism genetic risk of Chinese Han people, optimizes the complete gene locus combinations to obtain a simplest gene locus combination, and establishes a model for predicting the venous thromboembolism genetic risk of Chinese Han people, which is relatively high in prediction capability and relatively low in clinical cost. The defect that the current domestic clinical venous thromboembolism risk assessment is lack of a multi-gene collective characterization and genetic risk prediction model and method is overcome, and the method has a wide application prospect.

Description

technical field [0001] The invention belongs to the technical field of biomolecular detection, and in particular relates to a biomarker and a kit for predicting the genetic risk of venous thromboembolism in Chinese Han population. Background technique [0002] Venous thromboembolism (VTE) is the third vascular disease leading to human death worldwide and an important cause of unexpected death in hospitalized patients. It is a multifactorial disease caused by the combined effects of genetic and environmental factors. Relevant studies have confirmed that genetic factors account for about 60% of the occurrence of venous thromboembolism, and venous thromboembolism mainly manifests as deep venous thrombosis (DVT) and pulmonary thromboembolism (pulmonary thromboembolism, PTE) . [0003] Relevant studies have confirmed that from 2007 to 2016, the hospitalization rate of VTE, PTE (with or without DVT) and DVT patients in China increased more than fivefold. The incidence of DVT in ...

AI Technical Summary

Problems solved by technology

[0009] (3) Abnormal function of fibrinolytic system gene

[0013] Derek Klarin et al. developed a venous thromboembolism risk prediction method for 297 SNP sites in May 2020, and determined that the population with a genetic risk score in the top 5% had the same risk as the established F5 Leiden variant and F2 G20210A variant carriers The risk of venous thromboembolism, but it has the following limitations: first, the composition of the model and its technical scheme is entirely based on the population data of European whites, African blacks and Hispanic individuals, and has not Considering the information of gene loci related to the genetic risk of venous thromboembolism in the Chinese Han population or Asian yellow race, the ability to predict the risk of venous thromboembolism in the Chinese Han population is limited, and the problem of ethnic heterogeneity is an objective existence that has been widely confirmed in the genetics community; Second, when constructing the model and its technical scheme, the researchers set the selection criteria of the gene loci as correlation with venous thromboembolism P-5 , and the association P value in the sense of GWAS (genome-wide association study) should be less than 5×10- 8 , so the correlation between these gene loci and venous thromboembolism has not reached the GWAS sense, that is, the correlation is not high; third, the model and its technical scheme can identify the population with the genetic risk score in the top 5% and The established F5Leiden mutation and F2 G20210A mutation carriers have the same risk of venous thromboembolism, which is equivalent to dividing the population into two categories: the high-risk population with the genetic risk score ranked in the top 5% and the remaining 95% of the other population. The risk group only covers 5% of the tested population

For the Chinese Han population, the assessment conclusions of single or two or three gene variants can only be evaluated locally and cannot comprehensively assess the genetic risk of venous thromboembolism, which ultimately limits the application of these technical solutions in predicting the genetic risk of venous thromboembolism. Accuracy and clinical application value

Images