Identifikasi Variasi Dan Ekspresi Gen Pada Stroke Iskemik Dengan Pendekatan Bioinformatika

Abstract

Stroke is the leading cause of cerebrovascular disease (CVD) and is a considerable cause of death and disability in society. Approximately 80-85% of all stroke cases are caused by ischemic stroke. Genetic factors play an important role in early-onset stroke. A family history of stroke is associated with a higher prevalence and incidence of stroke. Until now, research on ischemic stroke has been limited to identifying gene variations that affect it, but has not produced reports that specifically show which gene variations are most significant in causing ischemic stroke, especially those that are missense/nonsense. Therefore, this study used genomic databases in bioinformatic analysis to identify gene variations that have the strongest correlation with ischemic stroke. The aim of this research is to identify genetic variations associated with ischemic stroke, prioritizing these genetic variations based on their susceptibility levels through the utilization of GWAS catalog and integration of multiple bioinformatics databases. The method employed in this study utilizes several databases, including the GWAS catalog, PheWAS catalog, HaploReg (v41.), and the GTEx portal. The results showed that GCKR, ALDH2, and F5 genes were significantly associated with ischemic stroke, and showed high expression levels in several tissue types such as liver, subcutaneous adipose, ovary, and whole blood. Gene variation based on the frequency of allelic variants (rs1260326, rs671, rs6025) associated with ischemic stroke showed the highest tissue expression in liver.