Genetic risk stratification of inflammatory bowel disease-associated venous thromboembolism: An Asian perspective

Abstract

The utilisation of polygenic scoring models may enhance the clinician’s ability to risk stratify an inflammatory bowel disease patient’s individual risk for venous thromboembolism (VTE) and guide the appropriate usage of VTE thromboprophylaxis, yet there is a need to validate such models in ethnically diverse populations.

Keywords: Thromboembolism; Inflammatory bowel disease; Genetic screening; Venous thromboembolism; Thromboprophylaxis

Core Tip: Polygenic scoring models may determine an inflammatory bowel disease patient’s actual risk for venous thromboembolism (VTE) with greater accuracy than monogenic screening alone. This may be due to the cumulative effect of multiple pro-thrombotic genetic loci having a greater influence on thrombotic risk, rather than specific genetic mutations. There needs to be cross-validation of such scoring models in ethnically diverse populations as there is significant heterogeneity in the prevalence of genes implicated in thrombophilia. A composite score combining clinical and polygenic risk factors would further enhance the accuracy in determining one’s VTE risk.