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Approved Research

Analysis of the association and causality of glaucoma and risk factors (exposure) with combined of analyses of genome and image study

Principal Investigator: Dr Jehyun Seo
Approved Research ID: 96390
Approval date: January 23rd 2023

Lay summary

The aim of this project is to investigate the association and causal relationship between glaucoma and previously-suggested risk factors using a combination of genomic and image analysis.

The scientific rationale for this study is that prospective cohort or randomization control trial data are required to verify the causation of glaucoma risk factor, however, these data are difficult to obtain. Mendelian Randomization (MR) analysis, a recently developed statistical model, can be used to establish causality for cohorts containing genetic data. In this study, targeted risk factors for glaucoma (intarocular pressure, diabetes, systemic hypertension or hypotension, cornea thickness, corneal hysterosis, myopia, body mass index, estimated cerebrospinal fluid pressure, sleep apnea, cardiovascular data, imaging data, lab data) will be assessed by MR analysis and genome-wide association study. Furthermore, using UK Biobank data, a genome-based glaucoma prediction model analysis will be constructed, as will a study to determine the reason of missing heritability and rare variant analysis The researchers estimate the project will take three years. Risk factors with confirmed causality beyond the level of association are chosen for this project, and it is hoped that they will be used in public health effect for the prevention of glaucoma, which is a leading cause of irreversible blindness worldwide. It is anticipated that it will be possible to give data that forms the basis for precision medicine, which delivers genome-based illness information, by investigating the association between these risk factors and glaucoma.