Approved Research

Identification and validation of diabetes, cardio-cerebrovascular disease, cancers related genetic factors based on Korea Biobank Array genome data

Lay summary

Aim: Identify genetic factors to predict and prevent chronic diseases such diabetes, cardio-cerebrovascular diseases, and cancers via ethnic specific GWAS and trans-ethnic GWAS

Scientific rationale: Chronic diseases occur through complex interaction of genetic and environmental factors. Since chronic diseases are highly heritable, studying underlying genetics of the diseases will enhance our understanding of disease pathogenesis along with genetic predisposition to diseases. Recently, polygenic risk score (PRS) is expected to use in a clinical practice for identifying genetically high-risk group and treating them with adequate therapeutics (Mahajan et al. Nature Genetics 2018, Khera et al. Nature Genetics 2018). However, Martin et al. (Nature Genetics 2019) reported that Eurocentric biases in genomic data resulted a large reduction in diseases prediction accuracy in non-Europeans. Therefore, more non-European genome study and trans-ethnic genome study are warranted.

Project duration: 2019-2021

Public health impact: Contribute to the improvement of national health by reducing medical expenses and improving the life quality through the prediction and prevention of diseases based on genomic data