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Approved Research

Investigation of genetic predisposition and environmental aspect of cancers, chronic, cardiovascular, liver, kidney, and lung diseases

Principal Investigator: Mr Inseok Hwang
Approved Research ID: 99573
Approval date: April 17th 2023

Lay summary

The main causes of death in Korea include cancers, chronic, cardiovascular, liver, kidney, and lung diseases. Various association studies and datatypes (Array, Next Generation Sequencing, imaging, clinical, environmental data) will be used to investigate the association of diseases, genetic/clinical and environmental factors. One of the widely used association studies is genome-wide association studies (GWAS). Genome-wide association studies are defined as a statistical approach to test the association of genetic variants and disease phenotypes. In addition to genome-wide association studies, Phenome-wide association studies have also been used for association studies recently. Phenome-wide association studies are defined as a statistical approach to test how one genetic variant is associated with multiple phenotypes. Phenome-wide association studies are particularly useful in situations where we currently have an incomplete understanding of disease mechanisms. To increase our understanding of genetic variants that were found in association studies, Mendelian randomization (MR) is a widely used epidemiological method that uses genetic variants to investigate the causal association of a risk factor and an outcome. In mendelian randomization, genetic variants are used as instrumental variables (IV). Assumption of mendelian randomziation includes that genetic variants are associated with risk factors whereas instrumental variables are not directly associated with confounders of the risk factors, nor does it affect the outcome directly. Polygenic risk scores (PRS) indicate the accumulative effects of genetic variants that are associated with a specific disease group. Moreover, polygenic risk score represents the genetic risk of an individual for specific diseases. Besides array-based analyses, additional analyses using next-generation sequencing (NGS), imaging, clinical, and environmental data will be used for various analyses at our discretion. The study aims to understand cancers, chronic, cardiovascular, liver, kidney, and lung diseases from genetic and environmental perspectives. The project duration is about 36 months. Public health impacts are concerned with discovering and predicting risk factors for main disease groups.