Validation of genetic risk scores for type 2 diabetes on a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine

Abstract

Aim. To validate and evaluate the accuracy of 14 genetic risk scores (GRSs) for type 2 diabetes (T2D), created earlier in other countries, using a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. For genetic analysis, next generation sequencing data was used on a sample from the Russian population (n=1165) based on the biobank collection. The study included 14 GRSs associated with T2D.Results. The study demonstrated that the predictive power of 12 out of 14 GRSs for T2D was replicated in the Russian population. As quality metrics, we used the area under the ROC curve, which for models including only GRS varied from 54,49 to 59,46%, and for models including GRS, sex and age — from 77,56 to 78,75%.Conclusion. For the first time in Russia, a study of 14 T2D GRSs developed on other populations was conducted. Twelve GRSs have been validated and can be used in the future to improve risk prediction and prevention of T2D in Russia.

Keywords

• type 2 diabetes
• genetic risk score
• validation
• population study
• biobank