Venous thromboembolism (VTE) has both environmental and genetic risk factors. It is regulated by polygenes and multisites. Any single genetic biomarker fails to accurately predict the genetic risk of VTE. Hence, polygenic risk score (PRS) has been widely used. However, a polygenic risk model for VTE has not been applied in Chinese population.

In this study, Professor Lu Shaoying's team from Department of Vascular Surgery in the First Affiliated Hospital (FAH) of Xi'an Jiaotong University (XJTU) screened single nucleotide polymorphisms (SNP) associated with VTE in genome-wide association studies (GWAS), meta-analyses and candidate gene studies as variables for the RPS, and employed the logarithm of the odds ratio (OR) to weight the variables, and established a training set with simulated data sets from 1000 VTE patients and 1000 controls with different genotypes and frequencies, and screened 53 potential SNPs potentially associated with the first episode of VTE. The AUC of the PRS-53 model in the training set was 0.748 (95%CI: 0.727-0.770). From the largest weight to the smallest weight, SNPs were incrementally added to the model to calculate the AUC for model optimization. The AUC of the PRS-10 model was 0.718 (95%CI: 0.696-0.740), with no statistically significant difference from the AUC for the PRS-53 model. Taken together, the PRS-10 and PRS-53 models showed similar predictive abilities and satisfactory discriminatory power and can be used to predict the genetic risk of the first episode of VTE in the Chinese population. The simplified PRS-10 model is more efficient in clinical practice. In this study, the world's first polygenic risk model for VTE was constructed in Chinese population, creating a breakthrough for VTE prevention in China. At present, the multi-center clinical trial including 23 hospitals entitled "Clinical study of the construction and efficacy evaluation of CapriniPRS-15 risk prediction model for venous thromboembolism in patients undergoing surgery" led by Department of Vascular Surgery in FAH as the main PI affiliation has been carried out in an all-round manner, which will fill the gap of the first VTE genetic risk assessment model in China, and constructing a comprehensive risk assessment model for Caprini scale combined with genetic risk factors in Chinese population, and resolve practical problems in clinical practice.

Recently, relevant research results were published as an article entitled “Construction and optimization of a polygenic risk model for venous thromboembolism in the Chinese population” in Journal of Vascular Surgery: Venous and Lymphatic Disorders. Liu Chao, MD, from Department of Vascular Surgery of the FAH of XJTU is the first author, and Professor Lu Shaoying is the corresponding author of this article.

Article link:https://www.jvsvenous.org/article/S2213-333X(23)00318-9/fulltext